#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
ESPNP	284729	broad.mit.edu	37	1	17023403	17023403	+	RNA	SNP	G	G	A	rs10907267	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:17023403G>A	ENST00000492551.1	-	0	1544					NR_026567.1				espin pseudogene																		GGAACATCACGTTGAAAGACT	0.622													g|||	1575	0.314497	0.1225	0.3573	5008	,	,		39681	0.4563		0.332	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			284729							g.chr1:17023403G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023403G>A								NR_026567.1						0	1544	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			5	71	0	0	0	1	0	5	71				
REG1P	5969	broad.mit.edu	37	2	79365129	79365129	+	RNA	SNP	G	G	A	rs3819310	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:79365129G>A	ENST00000444841.1	-	0	129									regenerating islet-derived 1 pseudogene																		CAGGAGATCAGCATGAAGCAT	0.502													G|||	260	0.0519169	0.0015	0.196	5008	,	,		20063	0.1141		0.002	False		,,,				2504	0.0051					ENST00000444841.1																			0																																																			5969							g.chr2:79365129G>A			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79365129G>A														0	129	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.502	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		9	153	0	0	0	1	0	9	153				
TRAV6	6956	broad.mit.edu	37	14	22236771	22236771	+	RNA	SNP	C	C	T	rs11623408	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:22236771C>T	ENST00000390428.3	+	0	43									T cell receptor alpha variable 6																		GTCTACATTTCAGGCCACATT	0.468													C|||	777	0.155152	0.1172	0.1455	5008	,	,		21523	0.1171		0.2406	False		,,,				2504	0.1646					ENST00000390428.3																			0															C		572,3278		33,506,1386	248.0	246.0	247.0			-2.3	0.0	14	dbSNP_120	247	1972,6282		227,1518,2382	no	intergenic				260,2024,3768	TT,TC,CC		23.8914,14.8571,21.0178			22236771	2544,9560	1925	4127	6052			6956							g.chr14:22236771C>T	Z49060		14q11.2	2012-02-07			ENSG00000211780	ENSG00000211780		"""T cell receptors / TRA locus"""	12144	other	T cell receptor gene				TCRAV5S1		8188290, 8530018	Standard	NG_001332		Approved				OTTHUMG00000168984		14.37:g.22236771C>T														0	43	+									RNA	SNP	ENST00000390428.3	37																																																																																						0.468	TRAV6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401882.1	NG_001332		22	389	0	0	0	1	0	22	389				
PPP1R15B	84919	broad.mit.edu	37	1	204378920	204378920	+	Missense_Mutation	SNP	T	T	A	rs537467435	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:204378920T>A	ENST00000367188.4	-	1	1999	c.1620A>T	c.(1618-1620)gaA>gaT	p.E540D	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	540					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.E540D(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CCCAGTCATCTTCCTCCCCAG	0.458																																						ENST00000367188.4																			1	Substitution - Missense(1)	p.E540D(1)	kidney(1)	breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34						c.(1618-1620)gaA>gaT		protein phosphatase 1, regulatory subunit 15B							58.0	58.0	58.0					1																	204378920		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204378920T>A	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1620A>T	1.37:g.204378920T>A	ENSP00000356156:p.Glu540Asp					RP11-739N20.2_ENST00000443515.1_RNA	p.E540D	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1999	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		540					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.1620A>T	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.724677	0.48833	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.19394	2.15	5.38	-7.88	0.01178	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.746215	0.13044	N	0.418281	T	0.08758	0.0217	L	0.28014	0.82	0.36487	D	0.868218	B	0.20550	0.046	B	0.22601	0.04	T	0.17077	-1.0381	10	0.28530	T	0.3	-6.382	2.3305	0.04234	0.1917:0.3548:0.2793:0.1742	.	540	Q5SWA1	PR15B_HUMAN	D	540;450	ENSP00000356156:E540D	ENSP00000356156:E540D	E	-	3	2	PPP1R15B	202645543	0.001000	0.12720	0.941000	0.38009	0.786000	0.44442	-1.432000	0.02430	-1.053000	0.03218	-0.250000	0.11733	GAA		0.458	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		14	23	0	0	0	1	0	14	23				
RPS29	6235	broad.mit.edu	37	14	50053045	50053045	+	Missense_Mutation	SNP	T	T	C	rs368998907		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:50053045T>C	ENST00000245458.6	-	1	49	c.20A>G	c.(19-21)tAc>tGc	p.Y7C	RPS29_ENST00000396020.3_Missense_Mutation_p.Y7C|RN7SL1_ENST00000553637.1_RNA|RPS29_ENST00000557111.1_Intron	NM_001032.3	NP_001023.1	P62273	RS29_HUMAN	ribosomal protein S29	7					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270)	p.Y7C(2)		endometrium(1)|kidney(1)|lung(1)|ovary(1)	4	all_epithelial(31;0.00214)|Breast(41;0.0124)					GTGGCTCCAGTACAGCTGCTG	0.522																																						ENST00000396020.3																			2	Substitution - Missense(2)	p.Y7C(2)	kidney(2)	endometrium(1)|kidney(1)|lung(1)|ovary(1)	4						c.(19-21)tAc>tGc		ribosomal protein S29		T	CYS/TYR,CYS/TYR	0,4406		0,0,2203	57.0	63.0	61.0		20,20	5.4	1.0	14		61	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	RPS29	NM_001032.3,NM_001030001.1	194,194	0,1,6500	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	7/57,7/68	50053045	1,13001	2203	4298	6501	SO:0001583	missense	6235				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome|zinc ion binding	g.chr14:50053045T>C	L31610	CCDS9685.1, CCDS32072.1	14q21.3	2011-04-06			ENSG00000213741	ENSG00000213741		"""S ribosomal proteins"""	10419	protein-coding gene	gene with protein product		603633				8781548, 7772601	Standard	NM_001032		Approved	S29	uc001wwl.4	P62273	OTTHUMG00000140272	ENST00000245458.6:c.20A>G	14.37:g.50053045T>C	ENSP00000245458:p.Tyr7Cys					RPS29_ENST00000245458.6_Missense_Mutation_p.Y7C|RPS29_ENST00000557111.1_Intron	p.Y7C	NM_001030001.1	NP_001025172.1	P62273	RS29_HUMAN			1	49	-	all_epithelial(31;0.00214)|Breast(41;0.0124)		7					A8MZ73|P30054	Missense_Mutation	SNP	ENST00000245458.6	37	c.20A>G	CCDS9685.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.784197	0.70222	0.0	1.16E-4	ENSG00000213741	ENST00000396020;ENST00000245458	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	.	.	.	0.80722	D	1	B;B	0.32101	0.013;0.356	B;B	0.35688	0.072;0.208	T	0.63603	-0.6600	8	0.66056	D	0.02	-43.0981	14.4156	0.67148	0.0:0.0:0.0:1.0	.	7;7	P62273;A8MZ73	RS29_HUMAN;.	C	7	.	ENSP00000245458:Y7C	Y	-	2	0	RPS29	49122795	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.288000	0.78691	2.272000	0.75746	0.460000	0.39030	TAC		0.522	RPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276809.1	NM_001030001		37	137	0	0	0	1	0	37	137				
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A	rs201547693		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:14316410T>A	ENST00000256196.4	-	3	510		c.e3-2		RRAS2_ENST00000545643.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000529237.1_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_ENST00000256196.4_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000534746.1_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	142	0	0	0	1	0	7	142				
TP63	8626	broad.mit.edu	37	3	189349247	189349247	+	De_novo_Start_OutOfFrame	SNP	A	A	T	rs28673064	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:189349247A>T	ENST00000264731.3	+	0	32				TP63_ENST00000320472.5_5'Flank|TP63_ENST00000418709.2_5'Flank|TP63_ENST00000440651.2_5'Flank|TP63_ENST00000382063.4_De_novo_Start_OutOfFrame|TP63_ENST00000392460.3_5'Flank	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACACAGGTATATGTGTATATT	0.368										HNSCC(45;0.13)			A|||	2442	0.48762	0.3865	0.3458	5008	,	,		17938	0.7361		0.4712	False		,,,				2504	0.4857					ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61								tumor protein p63		A	,,	551,833		105,341,246	37.0	34.0	35.0		,,	5.7	1.0	3	dbSNP_125	35	1542,1640		368,806,417	no	utr-5,utr-5,utr-5	TP63	NM_001114978.1,NM_001114979.1,NM_003722.4	,,	473,1147,663	TT,TA,AA		48.4601,39.8121,45.8388	,,	,,	189349247	2093,2473	692	1591	2283			8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189349247A>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.-58A>T	3.37:g.189349247A>T		HNSCC(45;0.13)				TP63_ENST00000382063.4_De_novo_Start_OutOfFrame		NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	0	32	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)							O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Translation_Start_Site	SNP	ENST00000264731.3	37		CCDS3293.1																																																																																				0.368	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		3	24	0	0	0	1	0	3	24				
THRAP3	9967	broad.mit.edu	37	1	36755101	36755101	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:36755101C>T	ENST00000354618.5	+	5	1705	c.1481C>T	c.(1480-1482)tCt>tTt	p.S494F	THRAP3_ENST00000469141.2_Missense_Mutation_p.S494F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	494	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S494F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGGAGGAGTCTTTCCCAGAG	0.507			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)	p.S494F(1)	kidney(1)	breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(1480-1482)tCt>tTt		thyroid hormone receptor associated protein 3							80.0	90.0	87.0					1																	36755101		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36755101C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1481C>T	1.37:g.36755101C>T	ENSP00000346634:p.Ser494Phe					THRAP3_ENST00000469141.2_Missense_Mutation_p.S494F	p.S494F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			5	1705	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	494					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.1481C>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816412	0.50527	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.10573	2.86;2.86	5.84	5.84	0.93424	.	0.451495	0.23060	N	0.052390	T	0.12263	0.0298	L	0.36672	1.1	0.36344	D	0.859667	P	0.44380	0.834	B	0.42282	0.382	T	0.07309	-1.0779	10	0.42905	T	0.14	-1.486	15.3925	0.74758	0.0:0.851:0.149:0.0	.	494	Q9Y2W1	TR150_HUMAN	F	494	ENSP00000346634:S494F;ENSP00000433825:S494F	ENSP00000346634:S494F	S	+	2	0	THRAP3	36527688	0.816000	0.29132	0.993000	0.49108	0.953000	0.61014	3.354000	0.52254	2.765000	0.95021	0.655000	0.94253	TCT		0.507	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		62	138	0	0	0	1	0	62	138				
MYZAP	100820829	broad.mit.edu	37	15	57913819	57913819	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:57913819T>C	ENST00000267853.5	+	4	426	c.332T>C	c.(331-333)tTg>tCg	p.L111S	POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000574161.1_Missense_Mutation_p.L111S|GCOM1_ENST00000380569.2_Missense_Mutation_p.L111S|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000396180.1_Intron|MYZAP_ENST00000380565.4_Missense_Mutation_p.L111S|GCOM1_ENST00000380568.3_Missense_Mutation_p.L111S|GCOM1_ENST00000587652.1_Missense_Mutation_p.L111S|GCOM1_ENST00000572390.1_Missense_Mutation_p.L111S|GCOM1_ENST00000380560.2_Intron			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	111					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)		p.L111S(2)									AGAGCCACTTTGGAAAAGGTG	0.383																																						ENST00000574161.1																			2	Substitution - Missense(2)	p.L111S(2)	kidney(2)	endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(331-333)tTg>tCg									127.0	123.0	124.0					15																	57913819		2192	4292	6484	SO:0001583	missense	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57913819T>C	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.332T>C	15.37:g.57913819T>C	ENSP00000267853:p.Leu111Ser					MYZAP_ENST00000267853.5_Missense_Mutation_p.L111S|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000572390.1_Missense_Mutation_p.L111S|MYZAP_ENST00000380565.4_Missense_Mutation_p.L111S|GCOM1_ENST00000380568.3_Missense_Mutation_p.L111S|GCOM1_ENST00000396180.1_Intron|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380569.2_Missense_Mutation_p.L111S|GCOM1_ENST00000587652.1_Missense_Mutation_p.L111S	p.L111S	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			4	451	+			111					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.332T>C	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174407	0.78452	.	.	ENSG00000137878	ENST00000380569;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T	0.46451	0.91;0.89;0.9;0.87	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	L	0.58101	1.795	0.80722	D	1	P;P;D;P	0.53151	0.481;0.887;0.958;0.952	B;P;P;P	0.53689	0.302;0.638;0.638;0.732	T	0.57596	-0.7784	10	0.87932	D	0	-4.7376	15.1622	0.72793	0.0:0.0:0.0:1.0	.	111;111;111;111	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	S	111	ENSP00000369943:L111S;ENSP00000267853:L111S;ENSP00000369939:L111S;ENSP00000369942:L111S	ENSP00000267853:L111S	L	+	2	0	GCOM1	55701111	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.989000	0.70587	2.280000	0.76307	0.523000	0.50628	TTG		0.383	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		83	164	0	0	0	1	0	83	164				
PCNXL3	399909	broad.mit.edu	37	11	65392741	65392741	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:65392741A>T	ENST00000355703.3	+	17	3558	c.3019A>T	c.(3019-3021)Acc>Tcc	p.T1007S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1007						integral component of membrane (GO:0016021)		p.T1007S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CAGCGACCCCACCGTGCTCTG	0.647																																						ENST00000355703.3																			1	Substitution - Missense(1)	p.T1007S(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(3019-3021)Acc>Tcc		pecanex-like 3 (Drosophila)							33.0	35.0	35.0					11																	65392741		2158	4262	6420	SO:0001583	missense	399909					integral to membrane		g.chr11:65392741A>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3019A>T	11.37:g.65392741A>T	ENSP00000347931:p.Thr1007Ser						p.T1007S	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			17	3558	+			1007					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.3019A>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	A	6.542	0.468176	0.12461	.	.	ENSG00000197136	ENST00000355703	T	0.05855	3.38	4.53	3.37	0.38596	.	.	.	.	.	T	0.02455	0.0075	N	0.11064	0.09	0.33477	D	0.586947	B	0.21520	0.057	B	0.15870	0.014	T	0.31223	-0.9951	9	0.02654	T	1	.	3.9973	0.09564	0.7163:0.0:0.1006:0.1831	.	1007	Q9H6A9	PCX3_HUMAN	S	1007	ENSP00000347931:T1007S	ENSP00000347931:T1007S	T	+	1	0	PCNXL3	65149317	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.015000	0.49599	1.921000	0.55644	0.459000	0.35465	ACC		0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		4	9	0	0	0	1	0	4	9				
PCDH20	64881	broad.mit.edu	37	13	61985847	61985847	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr13:61985847G>T	ENST00000409186.1	-	5	4490	c.2385C>A	c.(2383-2385)ttC>ttA	p.F795L	PCDH20_ENST00000409204.4_Missense_Mutation_p.F795L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	795	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.F795F(1)|p.F768F(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTCAATCCTGAAGGACTCAG	0.478																																						ENST00000409186.1																			2	Substitution - coding silent(2)	p.F795F(1)|p.F768F(1)	large_intestine(2)	breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(2383-2385)ttC>ttA		protocadherin 20							84.0	82.0	82.0					13																	61985847		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985847G>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2385C>A	13.37:g.61985847G>T	ENSP00000386653:p.Phe795Leu					PCDH20_ENST00000409204.4_Missense_Mutation_p.F795L	p.F795L			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	4490	-		Breast(118;0.195)|Prostate(109;0.229)	768			Cadherin 6.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2385C>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895743	0.52121	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.70749	-0.51;-0.51	6.06	-1.03	0.10102	.	0.000000	0.64402	D	0.000002	D	0.84028	0.5382	M	0.91038	3.17	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.83404	0.0024	10	0.87932	D	0	.	10.3059	0.43680	0.6612:0.0:0.3388:0.0	.	795	A8K1K9	.	L	795;795;541	ENSP00000387250:F795L;ENSP00000386653:F795L	ENSP00000351500:F541L	F	-	3	2	PCDH20	60883848	0.968000	0.33430	0.985000	0.45067	0.919000	0.55068	0.403000	0.20982	-0.308000	0.08792	-0.300000	0.09419	TTC		0.478	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		15	310	1	0	1.67942e-08	1	1.86602e-08	15	310				
INVS	27130	broad.mit.edu	37	9	103060386	103060386	+	Intron	SNP	T	T	G	rs3813712	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:103060386T>G	ENST00000262457.2	+	16	3276				INVS_ENST00000541287.1_Missense_Mutation_p.I966R|INVS_ENST00000262456.2_Intron	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin						embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTAGAACAGATATGGCCAGGG	0.418													G|||	3969	0.792532	0.8956	0.7738	5008	,	,		19987	0.8552		0.5905	False		,,,				2504	0.8098					ENST00000541287.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2896-2898)aTa>aGa		inversin																																				SO:0001627	intron_variant	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103060386T>G	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.3091+94T>G	9.37:g.103060386T>G						INVS_ENST00000262456.2_Intron|INVS_ENST00000262457.2_Intron	p.I966R			Q9Y283	INVS_HUMAN			17	3451	+		Acute lymphoblastic leukemia(62;0.056)	0					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.2897T>G	CCDS6746.1	1664	0.7619047619047619	442	0.8983739837398373	267	0.7375690607734806	507	0.8863636363636364	448	0.5910290237467019	G	5.162	0.215427	0.09810	.	.	ENSG00000119509	ENST00000541287	T	0.44083	0.93	3.74	-0.646	0.11472	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17258	-1.0375	6	.	.	.	.	3.6062	0.08043	0.3696:0.0:0.3568:0.2736	rs3813712;rs57714690;rs3813712	966	F5GZH2	.	R	966	ENSP00000444454:I966R	.	I	+	2	0	INVS	102100207	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.220000	0.01217	-0.396000	0.07703	-1.197000	0.01672	ATA		0.418	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		2	8	0	0	0	1	0	2	8				
HSD17B7P2	158160	broad.mit.edu	37	10	38645403	38645403	+	RNA	SNP	T	T	C	rs72639552	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:38645403T>C	ENST00000494540.1	+	0	96					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TGGTTTTGATTACCGGGGCTA	0.617													C|||	2512	0.501597	0.5303	0.5389	5008	,	,		17223	0.5724		0.5159	False		,,,				2504	0.3487					ENST00000494540.1																			0																																																			158160							g.chr10:38645403T>C			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38645403T>C								NR_003086.1						0	96	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.617	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	30	0	0	0	1	0	3	30				
OR5AP2	338675	broad.mit.edu	37	11	56409843	56409843	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:56409843C>T	ENST00000302981.1	-	1	72	c.73G>A	c.(73-75)Gac>Aac	p.D25N	OR5AP2_ENST00000544374.1_Missense_Mutation_p.D26N	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TCTGGATTGTCGGAAAGTCCT	0.383																																						ENST00000544374.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(76-78)Gac>Aac		olfactory receptor, family 5, subfamily AP, member 2							99.0	92.0	94.0					11																	56409843		2201	4296	6497	SO:0001583	missense	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409843C>T	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.73G>A	11.37:g.56409843C>T	ENSP00000303111:p.Asp25Asn					OR5AP2_ENST00000302981.1_Missense_Mutation_p.D25N	p.D26N			Q8NGF4	O5AP2_HUMAN			1	104	-			25					B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	c.76G>A	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	C	9.341	1.062927	0.19987	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00433	7.43;7.43	5.19	5.19	0.71726	.	0.682124	0.13296	N	0.398618	T	0.00271	0.0008	N	0.13352	0.335	0.48236	D	0.999618	B	0.26902	0.163	B	0.18561	0.022	T	0.82806	-0.0275	10	0.31617	T	0.26	.	14.157	0.65424	0.0:0.85:0.15:0.0	.	25	Q8NGF4	O5AP2_HUMAN	N	26;25	ENSP00000442701:D26N;ENSP00000303111:D25N	ENSP00000303111:D25N	D	-	1	0	OR5AP2	56166419	0.000000	0.05858	0.414000	0.26521	0.104000	0.19210	0.040000	0.13905	2.688000	0.91661	0.637000	0.83480	GAC		0.383	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		17	111	0	0	0	1	0	17	111				
ERP27	121506	broad.mit.edu	37	12	15068485	15068485	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:15068485C>A	ENST00000266397.2	-	6	1285	c.712G>T	c.(712-714)Gca>Tca	p.A238S	ERP27_ENST00000540097.1_Missense_Mutation_p.A137S|ERP27_ENST00000544881.1_5'Flank	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	238						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						GAAACTTCTGCTGTGGGCAGT	0.408																																						ENST00000266397.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						c.(712-714)Gca>Tca		endoplasmic reticulum protein 27							124.0	121.0	122.0					12																	15068485		2203	4300	6503	SO:0001583	missense	121506					endoplasmic reticulum lumen		g.chr12:15068485C>A	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.712G>T	12.37:g.15068485C>A	ENSP00000266397:p.Ala238Ser					ERP27_ENST00000540097.1_Missense_Mutation_p.A137S	p.A238S	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN			6	1285	-			238						Missense_Mutation	SNP	ENST00000266397.2	37	c.712G>T	CCDS8670.1	.	.	.	.	.	.	.	.	.	.	C	4.798	0.148305	0.09134	.	.	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.28454	1.61;1.61	4.79	-4.81	0.03180	Thioredoxin-like fold (1);	1.102500	0.06734	N	0.777097	T	0.18964	0.0455	L	0.36672	1.1	0.09310	N	1	B	0.15141	0.012	B	0.21917	0.037	T	0.36286	-0.9754	10	0.10902	T	0.67	-17.5862	6.5723	0.22545	0.1235:0.2742:0.0:0.6023	.	238	Q96DN0	ERP27_HUMAN	S	238;137	ENSP00000266397:A238S;ENSP00000440573:A137S	ENSP00000266397:A238S	A	-	1	0	ERP27	14959752	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.982000	0.03762	-0.936000	0.03723	0.655000	0.94253	GCA		0.408	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321		17	232	1	0	1.64113e-05	1	1.72751e-05	17	232				
PTPRZ1	5803	broad.mit.edu	37	7	121513577	121513577	+	Silent	SNP	C	C	T	rs140414935	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:121513577C>T	ENST00000393386.2	+	1	435	c.24C>T	c.(22-24)ctC>ctT	p.L8L	PTPRZ1_ENST00000449182.1_Silent_p.L8L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	8					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGCGTTTCCTCGCTTGCATTC	0.597													C|||	3	0.000599042	0.0008	0.0	5008	,	,		13018	0.0		0.002	False		,,,				2504	0.0					ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(22-24)ctC>ctT		protein tyrosine phosphatase, receptor-type, Z polypeptide 1		C	,,	4,4402	8.1+/-20.4	0,4,2199	106.0	100.0	102.0		24,24,24	4.3	1.0	7	dbSNP_134	102	33,8567	22.2+/-67.0	0,33,4267	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRZ1	NM_001206838.1,NM_001206839.1,NM_002851.2	,,	0,37,6466	TT,TC,CC		0.3837,0.0908,0.2845	,,	8/1456,8/1449,8/2316	121513577	37,12969	2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121513577C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.24C>T	7.37:g.121513577C>T						PTPRZ1_ENST00000449182.1_Silent_p.L8L	p.L8L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			1	435	+			8					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.24C>T	CCDS34740.1																																																																																				0.597	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		5	92	0	0	0	1	0	5	92				
DCP2	167227	broad.mit.edu	37	5	112327832	112327832	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:112327832C>A	ENST00000389063.2	+	3	418	c.220C>A	c.(220-222)Ccg>Acg	p.P74T	DCP2_ENST00000515408.1_Missense_Mutation_p.P74T|DCP2_ENST00000543319.1_Intron	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	74					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAGTCATTGTCCGTTTTTGCT	0.338																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(220-222)Ccg>Acg		decapping mRNA 2							193.0	182.0	186.0					5																	112327832		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112327832C>A	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.220C>A	5.37:g.112327832C>A	ENSP00000373715:p.Pro74Thr					DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.P74T	p.P74T	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	3	418	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	74					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.220C>A	CCDS34210.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.670028	0.88348	.	.	ENSG00000172795	ENST00000515408;ENST00000389063	T;T	0.57273	0.41;0.41	5.69	5.69	0.88448	mRNA decapping protein 2, Box A (1);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	M	0.81497	2.545	0.80722	D	1	D	0.60575	0.988	P	0.58266	0.836	T	0.75690	-0.3230	10	0.72032	D	0.01	.	19.8209	0.96592	0.0:1.0:0.0:0.0	.	74	Q8IU60	DCP2_HUMAN	T	74	ENSP00000425770:P74T;ENSP00000373715:P74T	ENSP00000373715:P74T	P	+	1	0	DCP2	112355731	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.487000	0.81328	2.688000	0.91661	0.650000	0.86243	CCG		0.338	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		13	427	1	0	0.00074312	1	0.000773189	13	427				
RNASE9	390443	broad.mit.edu	37	14	21025051	21025051	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:21025051G>T	ENST00000557068.1	-	4	1903	c.178C>A	c.(178-180)Cct>Act	p.P60T	RNASE9_ENST00000338904.3_Missense_Mutation_p.P60T|RNASE9_ENST00000554964.1_Missense_Mutation_p.P60T|RNASE9_ENST00000404716.3_Missense_Mutation_p.P65T|RNASE9_ENST00000556208.1_Missense_Mutation_p.P65T|RNASE9_ENST00000557209.1_Missense_Mutation_p.P65T|RNASE9_ENST00000555230.1_Missense_Mutation_p.P60T|RNASE9_ENST00000553541.1_Missense_Mutation_p.P60T|RNASE9_ENST00000553706.1_Missense_Mutation_p.P65T|RNASE9_ENST00000429244.2_Missense_Mutation_p.P60T			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	60						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.P60T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TCTTTGGTAGGTGGTCTGGCG	0.358																																						ENST00000557068.1																			1	Substitution - Missense(1)	p.P60T(1)	kidney(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8						c.(178-180)Cct>Act		ribonuclease, RNase A family, 9 (non-active)							138.0	142.0	141.0					14																	21025051		2203	4300	6503	SO:0001583	missense	390443					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21025051G>T	AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"""Ribonucleases, RNase A"""	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.178C>A	14.37:g.21025051G>T	ENSP00000451565:p.Pro60Thr					RNASE9_ENST00000429244.2_Missense_Mutation_p.P60T|RNASE9_ENST00000557209.1_Missense_Mutation_p.P65T|RNASE9_ENST00000554964.1_Missense_Mutation_p.P60T|RNASE9_ENST00000555230.1_Missense_Mutation_p.P60T|RNASE9_ENST00000553706.1_Missense_Mutation_p.P65T|RNASE9_ENST00000553541.1_Missense_Mutation_p.P60T|RNASE9_ENST00000338904.3_Missense_Mutation_p.P60T|RNASE9_ENST00000556208.1_Missense_Mutation_p.P65T|RNASE9_ENST00000404716.3_Missense_Mutation_p.P65T	p.P60T			P60153	RNAS9_HUMAN	Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)	4	1903	-	all_cancers(95;0.00238)		60					A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Missense_Mutation	SNP	ENST00000557068.1	37	c.178C>A	CCDS32036.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.015057	0.35511	.	.	ENSG00000188655	ENST00000338904;ENST00000554964;ENST00000555230;ENST00000557068;ENST00000404716;ENST00000556208;ENST00000553541;ENST00000429244;ENST00000553706;ENST00000557209	T;T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	3.62	0.602	0.17535	Ribonuclease A, domain (1);	.	.	.	.	T	0.51346	0.1669	L	0.59436	1.845	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.34725	-0.9817	9	0.44086	T	0.13	-8.9295	2.1663	0.03838	0.1134:0.196:0.489:0.2016	.	60;65	P60153;P60153-2	RNAS9_HUMAN;.	T	60;60;60;60;65;65;60;60;65;65	ENSP00000340162:P60T;ENSP00000450599:P60T;ENSP00000450800:P60T;ENSP00000451565:P60T;ENSP00000384683:P65T;ENSP00000451160:P65T;ENSP00000451285:P60T;ENSP00000409504:P60T;ENSP00000450570:P65T;ENSP00000450987:P65T	ENSP00000340162:P60T	P	-	1	0	RNASE9	20094891	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.287000	0.18920	0.116000	0.18110	0.591000	0.81541	CCT		0.358	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411094.1	NM_001001673		6	127	1	0	0.00116845	1	0.00120874	6	127				
SMARCAD1	56916	broad.mit.edu	37	4	95158101	95158101	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:95158101A>T	ENST00000354268.4	+	5	610		c.e5-1		SMARCAD1_ENST00000457823.2_Splice_Site			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1						ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCGTTCTGTTAGTTGATTGAA	0.323																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e5-1		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							125.0	116.0	119.0					4																	95158101		2203	4300	6503	SO:0001630	splice_region_variant	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95158101A>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.538-1A>T	4.37:g.95158101A>T						SMARCAD1_ENST00000457823.2_Splice_Site				Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	5	610	+								B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Splice_Site	SNP	ENST00000354268.4	37		CCDS3639.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917708	0.73098	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5008	0.50437	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCAD1	95377124	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	5.051000	0.64257	2.029000	0.59856	0.477000	0.44152	.		0.323	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	Intron	9	152	0	0	0	1	0	9	152				
DMGDH	29958	broad.mit.edu	37	5	78340223	78340223	+	Missense_Mutation	SNP	G	G	A	rs145258663	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:78340223G>A	ENST00000255189.3	-	6	926	c.898C>T	c.(898-900)Ctc>Ttc	p.L300F	DMGDH_ENST00000380311.4_Missense_Mutation_p.L99F|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	300					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCCTGTCGGAGATAATATGAT	0.448													G|||	8	0.00159744	0.0	0.0029	5008	,	,		21476	0.0		0.006	False		,,,				2504	0.0					ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(898-900)Ctc>Ttc		dimethylglycine dehydrogenase		G	PHE/LEU	8,4398	15.5+/-35.6	0,8,2195	134.0	120.0	125.0		898	3.8	1.0	5	dbSNP_134	125	58,8542	36.4+/-91.3	1,56,4243	yes	missense	DMGDH	NM_013391.2	22	1,64,6438	AA,AG,GG		0.6744,0.1816,0.5075	benign	300/867	78340223	66,12940	2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78340223G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.898C>T	5.37:g.78340223G>A	ENSP00000255189:p.Leu300Phe					DMGDH_ENST00000380311.4_Missense_Mutation_p.L99F|DMGDH_ENST00000540686.1_Intron	p.L300F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	6	926	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	300					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.898C>T	CCDS4044.1	6	0.0027472527472527475	0	0.0	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	G	14.74	2.626469	0.46840	0.001816	0.006744	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	D;D;D	0.82255	-1.59;-1.59;-1.59	5.59	3.77	0.43336	FAD dependent oxidoreductase (1);	0.064415	0.64402	D	0.000005	T	0.61173	0.2326	N	0.17764	0.52	0.80722	D	1	B;B;B	0.22146	0.065;0.004;0.005	B;B;B	0.23150	0.044;0.006;0.023	T	0.59408	-0.7460	10	0.28530	T	0.3	.	7.8267	0.29320	0.1421:0.1439:0.7139:0.0	.	99;150;300	F8W6P8;F5H1C7;Q9UI17	.;.;M2GD_HUMAN	F	300;139;99;150	ENSP00000255189:L300F;ENSP00000430972:L139F;ENSP00000369667:L99F	ENSP00000255189:L300F	L	-	1	0	DMGDH	78375979	1.000000	0.71417	0.977000	0.42913	0.807000	0.45602	4.047000	0.57383	1.338000	0.45544	0.650000	0.86243	CTC		0.448	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		12	145	0	0	0	1	0	12	145				
GUCY2D	3000	broad.mit.edu	37	17	7909785	7909785	+	Silent	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:7909785T>A	ENST00000254854.4	+	4	1281	c.1131T>A	c.(1129-1131)gcT>gcA	p.A377A		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	377					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)	p.A377A(1)		skin(1)	1		Prostate(122;0.157)				CCGGAGCAGCTGTGGCCCGCC	0.677																																						ENST00000254854.4																			1	Substitution - coding silent(1)	p.A377A(1)	kidney(1)	skin(1)	1						c.(1129-1131)gcT>gcA		guanylate cyclase 2D, membrane (retina-specific)							29.0	33.0	32.0					17																	7909785		2202	4299	6501	SO:0001819	synonymous_variant	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.chr17:7909785T>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.1131T>A	17.37:g.7909785T>A							p.A377A	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			4	1281	+		Prostate(122;0.157)	377					Q6LEA7	Silent	SNP	ENST00000254854.4	37	c.1131T>A	CCDS11127.1																																																																																				0.677	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			10	14	0	0	0	1	0	10	14				
MUC16	94025	broad.mit.edu	37	19	9065013	9065013	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:9065013G>A	ENST00000397910.4	-	3	22636	c.22433C>T	c.(22432-22434)gCa>gTa	p.A7478V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7480	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						TTTGGTTACTGCCGTGTTTGA	0.483																																						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.(22432-22434)gCa>gTa		mucin 16, cell surface associated							197.0	181.0	186.0					19																	9065013		1944	4149	6093	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065013G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22433C>T	19.37:g.9065013G>A	ENSP00000381008:p.Ala7478Val						p.A7478V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	22636	-			7480			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22433C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	7.107	0.575331	0.13623	.	.	ENSG00000181143	ENST00000397910	T	0.31769	1.48	2.91	-2.26	0.06867	.	.	.	.	.	T	0.14141	0.0342	N	0.24115	0.695	.	.	.	P	0.37101	0.582	B	0.32583	0.148	T	0.17930	-1.0353	8	0.87932	D	0	.	0.5577	0.00673	0.2477:0.192:0.3644:0.1959	.	7478	B5ME49	.	V	7478	ENSP00000381008:A7478V	ENSP00000381008:A7478V	A	-	2	0	MUC16	8926013	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.015000	0.00645	-0.343000	0.08351	-0.362000	0.07510	GCA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	494	0	0	0	1	0	15	494				
EXTL2	2135	broad.mit.edu	37	1	101339500	101339500	+	Nonstop_Mutation	SNP	A	A	T	rs372520087		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:101339500A>T	ENST00000370114.3	-	5	2427	c.991T>A	c.(991-993)Taa>Aaa	p.*331K	EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K|EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	0					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTACTTTTATATTTTTCTT	0.303																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(991-993)Taa>Aaa		exostosin-like glycosyltransferase 2							42.0	47.0	45.0					1																	101339500		2197	4290	6487	SO:0001578	stop_lost	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339500A>T	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.991T>A	1.37:g.101339500A>T						EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K|EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K	p.*331K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	2427	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	0					B2R795|D3DT60	Nonstop_Mutation	SNP	ENST00000370114.3	37	c.991T>A	CCDS775.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760436	0.49468	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6278	0.76874	1.0:0.0:0.0:0.0	.	.	.	.	K	331;331;318	.	.	X	-	1	0	EXTL2	101112088	1.000000	0.71417	0.915000	0.36163	0.555000	0.35460	7.681000	0.84073	2.280000	0.76307	0.460000	0.39030	TAA		0.303	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		4	40	0	0	0	1	0	4	40				
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y|C1S_ENST00000328916.3_Missense_Mutation_p.N174Y	p.N174Y			P09871	C1S_HUMAN			9	1148	+			174					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.520A>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209523	0.58343	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	6.17	6.17	0.99709	CUB (2);	0.000000	0.45606	D	0.000349	T	0.18841	0.0452	N	0.19112	0.55	0.48341	D	0.999634	P	0.49185	0.92	B	0.43889	0.435	T	0.01401	-1.1364	10	0.72032	D	0.01	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	174	P09871	C1S_HUMAN	Y	174;174;174;163;7;7	ENSP00000385035:N174Y;ENSP00000328173:N174Y;ENSP00000354057:N174Y;ENSP00000384171:N7Y;ENSP00000442298:N7Y	ENSP00000328173:N174Y	N	+	1	0	C1S	7042667	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	5.137000	0.64789	2.371000	0.80710	0.533000	0.62120	AAT		0.423	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		6	114	0	0	0	1	0	6	114				
SMG6	23293	broad.mit.edu	37	17	2195926	2195926	+	Splice_Site	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:2195926T>A	ENST00000263073.6	-	6	2309		c.e6-2		SMG6_ENST00000544865.1_Splice_Site	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGTACCAACTAGAACAGAAA	0.428																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.e6-2		SMG6 nonsense mediated mRNA decay factor							84.0	89.0	88.0					17																	2195926		2203	4300	6503	SO:0001630	splice_region_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2195926T>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2259-2A>T	17.37:g.2195926T>A						SMG6_ENST00000263073.5_Splice_Site				Q86US8	EST1A_HUMAN			6	2676	-								B7Z874|O94837|Q86VH6|Q9UF60	Splice_Site	SNP	ENST00000263073.6	37		CCDS11016.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283628	0.80803	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3284	0.74186	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMG6	2142676	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	7.890000	0.87313	2.036000	0.60181	0.372000	0.22366	.		0.428	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3		Intron	9	200	0	0	0	1	0	9	200				
ZMYM4	9202	broad.mit.edu	37	1	35836041	35836041	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:35836041G>T	ENST00000314607.6	+	7	1074	c.994G>T	c.(994-996)Gtt>Ttt	p.V332F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.V332F|ZMYM4_ENST00000482131.1_3'UTR	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	332					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V332F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTTCCTTCAGTTCCAGCCAC	0.403																																						ENST00000314607.6																			1	Substitution - Missense(1)	p.V332F(1)	kidney(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(994-996)Gtt>Ttt		zinc finger, MYM-type 4							47.0	50.0	49.0					1																	35836041		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35836041G>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.994G>T	1.37:g.35836041G>T	ENSP00000322915:p.Val332Phe					ZMYM4_ENST00000373297.2_Missense_Mutation_p.V332F|ZMYM4_ENST00000482131.1_3'UTR	p.V332F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			7	1074	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	332					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.994G>T	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.99|16.99	3.274941|3.274941	0.59649|0.59649	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000457946|ENST00000314607;ENST00000373297	T|T;T	0.41400|0.44881	1.0|0.91;0.91	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.000000	.|0.64402	.|D	.|0.000009	T|T	0.43277|0.43277	0.1240|0.1240	L|L	0.54323|0.54323	1.7|1.7	0.33150|0.33150	D|D	0.545624|0.545624	.|B	.|0.24618	.|0.107	.|B	.|0.17098	.|0.017	T|T	0.53258|0.53258	-0.8464|-0.8464	7|10	0.66056|0.54805	D|T	0.02|0.06	-12.0346|-12.0346	19.4691|19.4691	0.94956|0.94956	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|332	.|Q5VZL5	.|ZMYM4_HUMAN	I|F	80|332	ENSP00000400506:S80I|ENSP00000322915:V332F;ENSP00000362394:V332F	ENSP00000400506:S80I|ENSP00000322915:V332F	S|V	+|+	2|1	0|0	ZMYM4|ZMYM4	35608628|35608628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.642000|4.642000	0.61383|0.61383	2.613000|2.613000	0.88420|0.88420	0.591000|0.591000	0.81541|0.81541	AGT|GTT		0.403	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		20	38	1	0	1.00905e-13	1	1.13518e-13	20	38				
NCOR2	9612	broad.mit.edu	37	12	124968161	124968161	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:124968161C>A	ENST00000405201.1	-	3	392	c.392G>T	c.(391-393)gGa>gTa	p.G131V	NCOR2_ENST00000397355.1_Missense_Mutation_p.G131V|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000404621.1_Missense_Mutation_p.G131V|NCOR2_ENST00000429285.2_Missense_Mutation_p.G131V|NCOR2_ENST00000356219.3_Missense_Mutation_p.G131V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	131					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.G131V(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCTTCAGATCCCGCAGGCTG	0.647																																						ENST00000356219.3																			2	Substitution - Missense(2)	p.G131V(2)	kidney(2)	breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(391-393)gGa>gTa		nuclear receptor corepressor 2							18.0	25.0	23.0					12																	124968161		1913	4113	6026	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124968161C>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.392G>T	12.37:g.124968161C>A	ENSP00000384018:p.Gly131Val					NCOR2_ENST00000429285.2_Missense_Mutation_p.G131V|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000405201.1_Missense_Mutation_p.G131V|NCOR2_ENST00000404621.1_Missense_Mutation_p.G131V|NCOR2_ENST00000397355.1_Missense_Mutation_p.G131V	p.G131V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	4	547	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		131					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.392G>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.079|1.079	-0.667510|-0.667510	0.03428|0.03428	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000542927|ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698;ENST00000448008	.|T;T;T;T;T;T	.|0.31769	.|2.23;2.48;2.23;2.48;2.48;1.48	4.92|4.92	-1.1|-1.1	0.09872|0.09872	.|.	.|0.833753	.|0.10302	.|U	.|0.691057	T|T	0.26702|0.26702	0.0653|0.0653	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	0.999996|0.999996	.|B;B;B	.|0.14012	.|0.005;0.005;0.009	.|B;B;B	.|0.21360	.|0.015;0.015;0.034	T|T	0.30534|0.30534	-0.9975|-0.9975	5|10	.|0.31617	.|T	.|0.26	-10.0725|-10.0725	15.1683|15.1683	0.72846|0.72846	0.0:0.2248:0.7041:0.0711|0.0:0.2248:0.7041:0.0711	.|.	.|131;131;131	.|C9J0Q5;C9J239;C9JFD3	.|.;.;.	Y|V	54|131;131;131;131;131;131;131;131;52	.|ENSP00000384018:G131V;ENSP00000384202:G131V;ENSP00000348551:G131V;ENSP00000380513:G131V;ENSP00000400281:G131V;ENSP00000402808:G131V	.|ENSP00000348551:G131V	D|G	-|-	1|2	0|0	NCOR2|NCOR2	123534114|123534114	0.000000|0.000000	0.05858|0.05858	0.030000|0.030000	0.17652|0.17652	0.037000|0.037000	0.13140|0.13140	0.033000|0.033000	0.13754|0.13754	-0.171000|-0.171000	0.10797|0.10797	0.455000|0.455000	0.32223|0.32223	GAT|GGA		0.647	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		12	5	1	0	2.31682e-05	1	2.42458e-05	12	5				
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:183495729A>T	ENST00000347615.2	+	5	431		c.e5-1		SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000367537.3_Splice_Site	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e6-1		SMG7 nonsense mediated mRNA decay factor							70.0	75.0	74.0					1																	183495729		2203	4300	6503	SO:0001630	splice_region_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495729A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.313-1A>T	1.37:g.183495729A>T						SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000347615.2_Splice_Site				Q92540	SMG7_HUMAN			6	594	+								B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Splice_Site	SNP	ENST00000347615.2	37		CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464105	0.63513	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMG7	181762352	1.000000	0.71417	0.974000	0.42286	0.892000	0.51952	8.638000	0.91019	2.254000	0.74563	0.533000	0.62120	.		0.333	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	Intron	6	77	0	0	0	1	0	6	77				
SGSH	6448	broad.mit.edu	37	17	78196561	78196561	+	5'Flank	SNP	C	C	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:78196561C>G	ENST00000326317.6	-	0	0				SLC26A11_ENST00000411502.3_Missense_Mutation_p.F114L|SLC26A11_ENST00000361193.3_Missense_Mutation_p.F114L|SLC26A11_ENST00000546047.2_Missense_Mutation_p.F114L|SLC26A11_ENST00000572725.1_Missense_Mutation_p.F114L|SLC26A11_ENST00000571602.1_3'UTR|SGSH_ENST00000570923.1_5'Flank|SGSH_ENST00000534910.1_5'Flank|SGSH_ENST00000572208.1_5'Flank	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.F114L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGTCTCCTTCTACACCTTCC	0.607																																						ENST00000361193.3																			1	Substitution - Missense(1)	p.F114L(1)	kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(340-342)ttC>ttG		solute carrier family 26 (anion exchanger), member 11							198.0	167.0	177.0					17																	78196561		2203	4300	6503	SO:0001631	upstream_gene_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78196561C>G	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78196561C>G	Exception_encountered					SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000546047.2_Missense_Mutation_p.F114L|SLC26A11_ENST00000572725.1_Missense_Mutation_p.F114L|SLC26A11_ENST00000411502.3_Missense_Mutation_p.F114L	p.F114L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		4	622	+	all_neural(118;0.0538)		114					A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.342C>G	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	c	9.829	1.187878	0.21954	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92595	-3.07;-3.07;-3.07	4.69	3.7	0.42460	.	0.412562	0.27976	N	0.017092	D	0.85852	0.5793	L	0.29908	0.895	0.29337	N	0.86629	B	0.25563	0.129	B	0.30251	0.113	T	0.77851	-0.2434	10	0.33141	T	0.24	-10.969	8.7225	0.34449	0.2997:0.5547:0.1456:0.0	.	114	Q86WA9	S2611_HUMAN	L	114	ENSP00000403998:F114L;ENSP00000440724:F114L;ENSP00000355384:F114L	ENSP00000355384:F114L	F	+	3	2	SLC26A11	75811156	0.982000	0.34865	1.000000	0.80357	0.987000	0.75469	0.180000	0.16860	0.962000	0.38057	0.455000	0.32223	TTC		0.607	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		176	156	0	0	0	1	0	176	156				
ACOX2	8309	broad.mit.edu	37	3	58520806	58520806	+	Silent	SNP	A	A	G	rs140431503		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:58520806A>G	ENST00000302819.5	-	2	319	c.28T>C	c.(28-30)Ttg>Ctg	p.L10L	ACOX2_ENST00000459701.2_Silent_p.L10L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	10					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GTATCCCCCAATGACACTCGG	0.567													A|||	1	0.000199681	0.0	0.0	5008	,	,		21917	0.0		0.001	False		,,,				2504	0.0					ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(28-30)Ttg>Ctg		acyl-CoA oxidase 2, branched chain		A		2,4404	4.2+/-10.8	0,2,2201	249.0	223.0	231.0		28	-8.0	0.0	3	dbSNP_134	231	15,8585	10.5+/-38.8	0,15,4285	no	coding-synonymous	ACOX2	NM_003500.3		0,17,6486	GG,GA,AA		0.1744,0.0454,0.1307		10/682	58520806	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58520806A>G	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.28T>C	3.37:g.58520806A>G						ACOX2_ENST00000459701.2_Silent_p.L10L	p.L10L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	2	319	-			10					A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	c.28T>C	CCDS33775.1																																																																																				0.567	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			51	520	0	0	0	1	0	51	520				
TBX18	9096	broad.mit.edu	37	6	85447027	85447027	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:85447027G>T	ENST00000369663.5	-	8	1537	c.1200C>A	c.(1198-1200)ttC>ttA	p.F400L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	400					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.F400L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCCCCAGATGGAAGGCAGGAG	0.582																																						ENST00000369663.5																			1	Substitution - Missense(1)	p.F400L(1)	kidney(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1198-1200)ttC>ttA		T-box 18							72.0	74.0	74.0					6																	85447027		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85447027G>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1200C>A	6.37:g.85447027G>T	ENSP00000358677:p.Phe400Leu					TBX18_ENST00000606784.1_Intron	p.F400L	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1537	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	400					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1200C>A	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681904	0.68042	.	.	ENSG00000112837	ENST00000369663	D	0.87887	-2.31	5.18	3.4	0.38934	.	0.414703	0.30752	N	0.008948	D	0.82879	0.5133	L	0.36672	1.1	0.52099	D	0.999947	D	0.76494	0.999	D	0.75484	0.986	T	0.79313	-0.1855	10	0.19590	T	0.45	.	9.696	0.40158	0.2253:0.0:0.7747:0.0	.	400	O95935	TBX18_HUMAN	L	400	ENSP00000358677:F400L	ENSP00000358677:F400L	F	-	3	2	TBX18	85503746	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.889000	0.48601	0.576000	0.29452	0.585000	0.79938	TTC		0.582	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		10	96	1	0	1.76689e-08	1	1.95117e-08	10	96				
CASP14	23581	broad.mit.edu	37	19	15164766	15164766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:15164766G>T	ENST00000427043.3	+	4	708	c.400G>T	c.(400-402)Gga>Tga	p.G134*	CASP14_ENST00000221740.1_Nonsense_Mutation_p.G134*|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	134					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.G134*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GGCCTGTCGAGGAGGTGGGGA	0.522																																						ENST00000427043.3																			1	Substitution - Nonsense(1)	p.G134*(1)	kidney(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						c.(400-402)Gga>Tga		caspase 14, apoptosis-related cysteine peptidase							55.0	55.0	55.0					19																	15164766		2203	4300	6503	SO:0001587	stop_gained	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15164766G>T		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.400G>T	19.37:g.15164766G>T	ENSP00000393417:p.Gly134*					CASP14_ENST00000221740.1_Nonsense_Mutation_p.G134*	p.G134*	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN			4	708	+			134					O95823|Q3SYC9	Nonsense_Mutation	SNP	ENST00000427043.3	37	c.400G>T	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	g	38	6.737728	0.97801	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	.	.	.	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0518	0.64742	0.0:0.0:1.0:0.0	.	.	.	.	X	134	.	ENSP00000221740:G134X	G	+	1	0	CASP14	15025766	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.140000	0.64807	2.383000	0.81215	0.306000	0.20318	GGA		0.522	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		64	141	1	0	2.94687e-45	1	3.53625e-45	64	141				
PSG6	5675	broad.mit.edu	37	19	43414833	43414833	+	Missense_Mutation	SNP	T	T	C	rs147725300	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:43414833T>C	ENST00000292125.2	-	3	649	c.605A>G	c.(604-606)tAt>tGt	p.Y202C	PSG6_ENST00000187910.2_Missense_Mutation_p.Y202C|PSG6_ENST00000402603.4_Missense_Mutation_p.Y202C	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	202	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACCAAATAGATAGAGGGTCCT	0.507																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(604-606)tAt>tGt		pregnancy specific beta-1-glycoprotein 6		A	CYS/TYR,CYS/TYR	1,4403		0,1,2201	188.0	195.0	193.0		605,605	-3.2	0.0	19	dbSNP_134	193	14,8582		0,14,4284	no	missense,missense	PSG6	NM_001031850.2,NM_002782.3	194,194	0,15,6485	CC,CT,TT		0.1629,0.0227,0.1154	,	202/425,202/436	43414833	15,12985	2202	4298	6500	SO:0001583	missense	5675							g.chr19:43414833T>C		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.605A>G	19.37:g.43414833T>C	ENSP00000292125:p.Tyr202Cys					PSG6_ENST00000402603.4_Missense_Mutation_p.Y202C|PSG6_ENST00000292125.2_Missense_Mutation_p.Y202C	p.Y202C	NM_001031850.3	NP_001027020.1					3	670	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.605A>G	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	12.07	1.828114	0.32329	2.27E-4	0.001629	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.13778	2.56;2.56;2.56	1.62	-3.24	0.05094	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13072	0.0317	L	0.32530	0.975	0.09310	N	1	P;P;P	0.48911	0.664;0.623;0.917	P;P;P	0.52627	0.544;0.579;0.704	T	0.05484	-1.0882	9	0.40728	T	0.16	.	3.2029	0.06656	0.2733:0.0:0.5178:0.2089	.	202;202;202	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	C	202	ENSP00000187910:Y202C;ENSP00000385736:Y202C;ENSP00000292125:Y202C	ENSP00000187910:Y202C	Y	-	2	0	PSG6	48106673	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	-0.545000	0.06069	-2.550000	0.00480	-3.467000	0.00035	TAT		0.507	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		35	436	0	0	0	1	0	35	436				
SLC1A4	6509	broad.mit.edu	37	2	65237735	65237735	+	Missense_Mutation	SNP	C	C	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:65237735C>G	ENST00000234256.3	+	4	881	c.638C>G	c.(637-639)cCc>cGc	p.P213R	SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	213					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CTGCAGATCCCCATAGGCACT	0.448																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(637-639)cCc>cGc		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						162.0	154.0	157.0					2																	65237735		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65237735C>G		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.638C>G	2.37:g.65237735C>G	ENSP00000234256:p.Pro213Arg					SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR	p.P213R	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			4	881	+			213					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.638C>G	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816819	0.50633	.	.	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.53857	0.6	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	N	0.20766	0.605	0.80722	D	1	B;B	0.17667	0.01;0.023	B;B	0.24269	0.021;0.052	T	0.18618	-1.0331	10	0.23891	T	0.37	-29.4237	20.275	0.98485	0.0:1.0:0.0:0.0	.	213;213	P43007;B2R7N6	SATT_HUMAN;.	R	133;213	ENSP00000234256:P213R	ENSP00000234256:P213R	P	+	2	0	SLC1A4	65091239	1.000000	0.71417	0.979000	0.43373	0.391000	0.30476	7.818000	0.86416	2.800000	0.96347	0.455000	0.32223	CCC		0.448	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		19	267	0	0	0	1	0	19	267				
KIF3B	9371	broad.mit.edu	37	20	30918079	30918079	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:30918079G>A	ENST00000375712.3	+	8	2271	c.2104G>A	c.(2104-2106)Gca>Aca	p.A702T	KIF3B_ENST00000418717.2_Missense_Mutation_p.A328T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	702	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.A702T(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACAGGTGGATGCATCATCATT	0.493																																						ENST00000375712.3																			1	Substitution - Missense(1)	p.A702T(1)	kidney(1)	NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2104-2106)Gca>Aca		kinesin family member 3B							106.0	104.0	105.0					20																	30918079		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30918079G>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.2104G>A	20.37:g.30918079G>A	ENSP00000364864:p.Ala702Thr					KIF3B_ENST00000418717.2_Missense_Mutation_p.A328T	p.A702T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		8	2271	+			702			Globular.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.2104G>A	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816458	0.70912	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.74632	-0.86;0.43	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	M	0.72118	2.19	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.956	T	0.81632	-0.0845	10	0.24483	T	0.36	.	18.0393	0.89314	0.0:0.0:1.0:0.0	.	328;702	B4DSR5;O15066	.;KIF3B_HUMAN	T	702;328	ENSP00000364864:A702T;ENSP00000406287:A328T	ENSP00000364864:A702T	A	+	1	0	KIF3B	30381740	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.100000	0.94213	2.559000	0.86315	0.655000	0.94253	GCA		0.493	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		70	68	0	0	0	1	0	70	68				
CSMD3	114788	broad.mit.edu	37	8	114448936	114448936	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:114448936C>A	ENST00000297405.5	-	1	392	c.148G>T	c.(148-150)Gtc>Ttc	p.V50F	CSMD3_ENST00000455883.2_Missense_Mutation_p.V50F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V50F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V50F(1)|p.V50L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATAAAAAGACGAGGTTCCAA	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Missense(2)	p.V50F(1)|p.V50L(1)	lung(1)|kidney(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(148-150)Gtc>Ttc		CUB and Sushi multiple domains 3							198.0	203.0	201.0					8																	114448936		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114448936C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.148G>T	8.37:g.114448936C>A	ENSP00000297405:p.Val50Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.V50F|CSMD3_ENST00000455883.2_Missense_Mutation_p.V50F	p.V50F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			1	392	-			50					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.148G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447243	0.25987	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.26810	2.06;1.71;2.07	5.82	5.82	0.92795	.	0.261231	0.20388	N	0.093301	T	0.22589	0.0545	N	0.08118	0	0.31669	N	0.644636	B;D;D;B	0.58620	0.399;0.96;0.983;0.278	B;P;P;B	0.58331	0.276;0.551;0.837;0.142	T	0.06972	-1.0797	10	0.19590	T	0.45	.	9.8962	0.41320	0.0:0.7853:0.1401:0.0746	.	50;50;50;50	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	F	50	ENSP00000297405:V50F;ENSP00000412263:V50F;ENSP00000343124:V50F	ENSP00000297405:V50F	V	-	1	0	CSMD3	114518112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.231000	0.43009	2.734000	0.93682	0.655000	0.94253	GTC		0.507	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		110	98	1	0	3.25107e-29	1	3.84995e-29	110	98				
ZNF876P	642280	broad.mit.edu	37	4	206531	206531	+	RNA	SNP	C	C	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:206531C>G	ENST00000356347.3	+	0	133					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTGGATGATTCGTAGCTAAGA	0.632																																						ENST00000356347.3																			0																																																			642280							g.chr4:206531C>G	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.206531C>G								NR_027481.1						0	133	+									RNA	SNP	ENST00000356347.3	37																																																																																						0.632	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		8	28	0	0	0	1	0	8	28				
CCT8L2	150160	broad.mit.edu	37	22	17072236	17072236	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:17072236A>G	ENST00000359963.3	-	1	1464	c.1205T>C	c.(1204-1206)cTa>cCa	p.L402P		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	402					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATCTTGACATAGCTGGAAATA	0.567																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1204-1206)cTa>cCa		chaperonin containing TCP1, subunit 8 (theta)-like 2							59.0	60.0	60.0					22																	17072236		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072236A>G	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1205T>C	22.37:g.17072236A>G	ENSP00000353048:p.Leu402Pro						p.L402P	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1464	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	402					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1205T>C	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	a	11.97	1.798581	0.31777	.	.	ENSG00000198445	ENST00000359963	T	0.80304	-1.36	1.98	1.98	0.26296	.	0.000000	0.31279	U	0.007921	D	0.86389	0.5921	.	.	.	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	D	0.84911	0.0848	9	0.87932	D	0	-5.525	5.9203	0.19078	1.0:0.0:0.0:0.0	.	402	Q96SF2	TCPQM_HUMAN	P	402	ENSP00000353048:L402P	ENSP00000353048:L402P	L	-	2	0	CCT8L2	15452236	0.160000	0.22878	0.992000	0.48379	0.441000	0.31987	3.509000	0.53386	0.922000	0.37019	0.312000	0.20444	CTA		0.567	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			4	63	0	0	0	1	0	4	63				
DYNC1H1	1778	broad.mit.edu	37	14	102466737	102466737	+	Splice_Site	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:102466737G>A	ENST00000360184.4	+	18	4238		c.e18+1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCTCGAAAGGTATATCATGA	0.403																																						ENST00000360184.4																			1	Unknown(1)	p.?(1)	kidney(1)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.e18+1		dynein, cytoplasmic 1, heavy chain 1							96.0	96.0	96.0					14																	102466737		2203	4300	6503	SO:0001630	splice_region_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102466737G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4074+1G>A	14.37:g.102466737G>A								NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			18	4238	+								B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37		CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098751	0.94197	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0769	0.97748	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101536490	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.805000	0.99149	2.820000	0.97059	0.650000	0.86243	.		0.403	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Intron	21	38	0	0	0	1	0	21	38				
MSL3P1	151507	broad.mit.edu	37	2	234775512	234775512	+	RNA	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:234775512G>T	ENST00000438684.1	-	0	602					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CTTGTTCATAGGGATAGAGTA	0.388																																						ENST00000438684.1																			0																				159.0	124.0	135.0					2																	234775512		692	1591	2283			151507							g.chr2:234775512G>T	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775512G>T								NR_024322.1						0	602	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.388	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		5	50	1	0	0.217242	1	0.219683	5	50				
ZMYM4	9202	broad.mit.edu	37	1	35836039	35836039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:35836039C>A	ENST00000314607.6	+	7	1072	c.992C>A	c.(991-993)tCa>tAa	p.S331*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.S331*|ZMYM4_ENST00000482131.1_3'UTR	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	331					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S331*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGCTTCCTTCAGTTCCAGCC	0.398																																						ENST00000314607.6																			1	Substitution - Nonsense(1)	p.S331*(1)	kidney(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(991-993)tCa>tAa		zinc finger, MYM-type 4							45.0	49.0	47.0					1																	35836039		2203	4300	6503	SO:0001587	stop_gained	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35836039C>A	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.992C>A	1.37:g.35836039C>A	ENSP00000322915:p.Ser331*					ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.S331*|ZMYM4_ENST00000482131.1_3'UTR	p.S331*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			7	1072	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	331					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Nonsense_Mutation	SNP	ENST00000314607.6	37	c.992C>A	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.108607|4.108607	0.77096|0.77096	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000457946|ENST00000314607;ENST00000373297	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.374095	.|0.24793	.|N	.|0.035548	T|.	0.67439|.	0.2893|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59402|.	-0.7461|.	3|.	.|0.17832	.|T	.|0.49	-3.9145|-3.9145	19.4691|19.4691	0.94956|0.94956	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	79|331	.|.	.|ENSP00000322915:S331X	F|S	+|+	3|2	2|0	ZMYM4|ZMYM4	35608626|35608626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.993000|5.993000	0.70616|0.70616	2.613000|2.613000	0.88420|0.88420	0.591000|0.591000	0.81541|0.81541	TTC|TCA		0.398	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		20	38	1	0	8.00594e-06	1	8.62916e-06	20	38				
KRT4	3851	broad.mit.edu	37	12	53207418	53207418	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:53207418T>C	ENST00000551956.1	-	1	917	c.425A>G	c.(424-426)aAg>aGg	p.K142R	KRT4_ENST00000458244.2_Missense_Mutation_p.K122R|KRT4_ENST00000293774.4_Missense_Mutation_p.K216R			P19013	K2C4_HUMAN	keratin 4	156	Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.K216R(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTTGAGGAGCTTGATCTGTTC	0.562																																					Pancreas(190;284 2995 41444 45903)	ENST00000293774.4																			1	Substitution - Missense(1)	p.K216R(1)	kidney(1)	endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(646-648)aAg>aGg		keratin 4							169.0	176.0	174.0					12																	53207418		2203	4300	6503	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53207418T>C		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.425A>G	12.37:g.53207418T>C	ENSP00000448220:p.Lys142Arg					KRT4_ENST00000458244.2_Missense_Mutation_p.K122R|KRT4_ENST00000551956.1_Missense_Mutation_p.K142R	p.K216R			B4DRS2	B4DRS2_HUMAN			1	917	-			142					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.647A>G	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	T	23.0	4.363082	0.82353	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.88896	-2.44;-2.44;-2.44	4.88	4.88	0.63580	Filament (1);	0.000000	0.48767	D	0.000166	D	0.95564	0.8558	M	0.92507	3.315	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.96648	0.9479	10	0.87932	D	0	.	15.193	0.73060	0.0:0.0:0.0:1.0	.	156	P19013	K2C4_HUMAN	R	142;216;122	ENSP00000448220:K142R;ENSP00000293774:K216R;ENSP00000387904:K122R	ENSP00000293774:K216R	K	-	2	0	KRT4	51493685	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.259000	0.72494	2.130000	0.65690	0.477000	0.44152	AAG		0.562	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		147	290	0	0	0	1	0	147	290				
GRK4	2868	broad.mit.edu	37	4	3037187	3037187	+	Silent	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:3037187G>T	ENST00000398052.4	+	13	1687	c.1344G>T	c.(1342-1344)gtG>gtT	p.V448V	GRK4_ENST00000398051.4_Silent_p.V416V|GRK4_ENST00000345167.6_Silent_p.V416V|GRK4_ENST00000504933.1_Silent_p.V448V|GRK4_ENST00000509545.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	448	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCACCCCGTGTTCAAGGACA	0.587																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(1342-1344)gtG>gtT		G protein-coupled receptor kinase 4							98.0	87.0	91.0					4																	3037187		2203	4300	6503	SO:0001819	synonymous_variant	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3037187G>T		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1344G>T	4.37:g.3037187G>T						GRK4_ENST00000345167.6_Silent_p.V416V|GRK4_ENST00000504933.1_Silent_p.V448V|GRK4_ENST00000398051.4_Silent_p.V416V|GRK4_ENST00000509545.1_Intron	p.V448V	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	13	1687	+			448			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Silent	SNP	ENST00000398052.4	37	c.1344G>T	CCDS33946.1																																																																																				0.587	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		99	454	1	0	1.54984e-59	1	1.87229e-59	99	454				
GDI2	2665	broad.mit.edu	37	10	5838827	5838827	+	Splice_Site	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:5838827T>A	ENST00000380191.4	-	3	444		c.e3-2		GDI2_ENST00000380132.4_Splice_Site|GDI2_ENST00000380181.3_Splice_Site	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2						protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TTTGTATAACTAAAAGCAAGG	0.308																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.e3-2		GDP dissociation inhibitor 2							72.0	72.0	72.0					10																	5838827		2203	4300	6503	SO:0001630	splice_region_variant	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5838827T>A	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.154-2A>T	10.37:g.5838827T>A						GDI2_ENST00000380181.3_Splice_Site|GDI2_ENST00000380132.4_Splice_Site		NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			3	444	-								O43928|Q5SX88|Q9UQM6	Splice_Site	SNP	ENST00000380191.4	37		CCDS7071.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182383	0.78677	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000418688;ENST00000380127	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2081	0.65748	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GDI2	5878833	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.928000	0.87587	1.884000	0.54569	0.533000	0.62120	.		0.308	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494	Intron	4	33	0	0	0	1	0	4	33				
DLGAP5	9787	broad.mit.edu	37	14	55625310	55625310	+	Silent	SNP	T	T	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:55625310T>C	ENST00000247191.2	-	14	2019	c.1803A>G	c.(1801-1803)ccA>ccG	p.P601P	DLGAP5_ENST00000395425.2_Silent_p.P601P	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	601					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.P601P(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAACTTCCTTTGGTATCACAG	0.348																																						ENST00000247191.2																			1	Substitution - coding silent(1)	p.P601P(1)	kidney(1)	biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1801-1803)ccA>ccG		discs, large (Drosophila) homolog-associated protein 5							114.0	106.0	108.0					14																	55625310		2202	4300	6502	SO:0001819	synonymous_variant	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55625310T>C	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1803A>G	14.37:g.55625310T>C						DLGAP5_ENST00000395425.2_Silent_p.P601P	p.P601P	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			14	2019	-			601					A8MTM6|B4DRM8|Q86T11|Q8NG58	Silent	SNP	ENST00000247191.2	37	c.1803A>G	CCDS9723.1																																																																																				0.348	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		16	76	0	0	0	1	0	16	76				
HSD17B7P2	158160	broad.mit.edu	37	10	38658896	38658896	+	RNA	SNP	A	A	G	rs147623826	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:38658896A>G	ENST00000494540.1	+	0	740					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		CTTTTTTGCAAATGCATTCAC	0.299													A|||	131	0.0261581	0.0015	0.0504	5008	,	,		17002	0.0		0.0805	False		,,,				2504	0.0133					ENST00000494540.1																			0																																																			158160							g.chr10:38658896A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38658896A>G								NR_003086.1						0	740	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.299	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	78	0	0	0	1	0	4	78				
PYGB	5834	broad.mit.edu	37	20	25261605	25261605	+	Silent	SNP	C	C	T	rs2228978	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:25261605C>T	ENST00000216962.4	+	11	1370	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	420					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CGCTGTTTCCCGGCGATGTGG	0.642													C|||	25	0.00499201	0.0113	0.0043	5008	,	,		18324	0.0		0.006	False		,,,				2504	0.001					ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1258-1260)ccC>ccT		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)	C		90,4316	74.1+/-112.3	2,86,2115	147.0	129.0	135.0		1260	-6.7	0.9	20	dbSNP_98	135	25,8575	16.6+/-54.9	0,25,4275	no	coding-synonymous	PYGB	NM_002862.3		2,111,6390	TT,TC,CC		0.2907,2.0427,0.8842		420/844	25261605	115,12891	2203	4300	6503	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25261605C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1260C>T	20.37:g.25261605C>T							p.P420P	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			11	1370	+			420					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.1260C>T	CCDS13171.1																																																																																				0.642	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		7	106	0	0	0	1	0	7	106				
NR1H3	10062	broad.mit.edu	37	11	47280724	47280724	+	De_novo_Start_OutOfFrame	SNP	C	C	A	rs200557846	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:47280724C>A	ENST00000467728.1	+	0	1195				NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000481889.2_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000441012.2_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3						apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CTGGGTCCTTCCTGCAGGACA	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		19215	0.0		0.002	False		,,,				2504	0.0					ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20								nuclear receptor subfamily 1, group H, member 3		C	,,	2,4400	4.2+/-10.8	0,2,2199	130.0	116.0	121.0		,,	4.7	1.0	11		121	17,8579	12.6+/-44.7	0,17,4281	no	intron,intron,intron	NR1H3	NM_001130101.1,NM_001130102.1,NM_005693.2	,,	0,19,6480	AA,AC,CC		0.1978,0.0454,0.1462	,,	,,	47280724	19,12979	2201	4298	6499			10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47280724C>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.-44C>A	11.37:g.47280724C>A						NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000481889.2_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000529540.1_Intron				Q13133	NR1H3_HUMAN			0	1195	+								A8K3J9|D3DQR1|Q8IW13|Q96H87	Translation_Start_Site	SNP	ENST00000467728.1	37		CCDS7929.1																																																																																				0.517	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			14	265	1	0	2.23348e-06	1	2.43653e-06	14	265				
TBATA	219793	broad.mit.edu	37	10	72532300	72532300	+	Missense_Mutation	SNP	T	T	C	rs143899859	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:72532300T>C	ENST00000299290.1	-	10	1329	c.940A>G	c.(940-942)Ata>Gta	p.I314V	TBATA_ENST00000394982.2_5'Flank	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	314					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											AAAGGTGATATCTTCGTTTTC	0.512													T|||	10	0.00199681	0.0008	0.0	5008	,	,		19913	0.0		0.0089	False		,,,				2504	0.0					ENST00000299290.1																			0											c.(940-942)Ata>Gta		thymus, brain and testes associated		T	VAL/ILE	4,4402	8.1+/-20.4	0,4,2199	203.0	198.0	199.0		940	-2.8	0.0	10	dbSNP_134	199	32,8568	22.2+/-67.0	0,32,4268	yes	missense	C10orf27	NM_152710.2	29	0,36,6467	CC,CT,TT		0.3721,0.0908,0.2768	benign	314/352	72532300	36,12970	2203	4300	6503	SO:0001583	missense	219793							g.chr10:72532300T>C	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.940A>G	10.37:g.72532300T>C	ENSP00000299290:p.Ile314Val						p.I314V	NM_152710.2	NP_689923.2					10	1329	-								A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	37	c.940A>G	CCDS7308.1	8	0.003663003663003663	0	0.0	0	0.0	0	0.0	8	0.010554089709762533	T	6.078	0.382725	0.11524	9.08E-4	0.003721	ENSG00000166220	ENST00000299290	T	0.40476	1.03	4.3	-2.75	0.05914	.	1.237830	0.05930	N	0.635040	T	0.16769	0.0403	N	0.22421	0.69	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.08055	0.003;0.002;0.002	T	0.17653	-1.0362	10	0.15952	T	0.53	3.6105	4.4167	0.11459	0.4464:0.0:0.229:0.3245	.	313;315;314	B7ZMN4;B7ZMN5;Q96M53	.;.;SPATL_HUMAN	V	314	ENSP00000299290:I314V	ENSP00000299290:I314V	I	-	1	0	C10orf27	72202306	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.288000	0.08377	-0.159000	0.11021	-0.368000	0.07277	ATA		0.512	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		25	365	0	0	0	1	0	25	365				
FAT3	120114	broad.mit.edu	37	11	92532807	92532807	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:92532807G>T	ENST00000298047.6	+	9	6645	c.6628G>T	c.(6628-6630)Gcc>Tcc	p.A2210S	FAT3_ENST00000409404.2_Missense_Mutation_p.A2210S|FAT3_ENST00000525166.1_Missense_Mutation_p.A2060S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2210	Cadherin 20. {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)				AAGCATCAATGCCACCAGTCC	0.413										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.(6628-6630)Gcc>Tcc		FAT atypical cadherin 3							49.0	48.0	49.0					11																	92532807		1960	4176	6136	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532807G>T	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.6628G>T	11.37:g.92532807G>T	ENSP00000298047:p.Ala2210Ser	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.A2060S|FAT3_ENST00000409404.2_Missense_Mutation_p.A2210S	p.A2210S			Q8TDW7	FAT3_HUMAN			9	6645	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2210			Cadherin 20.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6628G>T		.	.	.	.	.	.	.	.	.	.	G	18.29	3.592516	0.66219	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.61510	0.1;0.1;0.1	6.17	6.17	0.99709	.	.	.	.	.	D	0.84741	0.5539	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87687	0.2551	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2210	Q8TDW7-3	.	S	2210;2210;2060	ENSP00000298047:A2210S;ENSP00000387040:A2210S;ENSP00000432586:A2060S	ENSP00000298047:A2210S	A	+	1	0	FAT3	92172455	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.849000	0.86908	2.941000	0.99782	0.655000	0.94253	GCC		0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	111	1	0	1.12685e-05	1	1.19314e-05	7	111				
KRT76	51350	broad.mit.edu	37	12	53162498	53162498	+	Silent	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:53162498C>T	ENST00000332411.2	-	9	1969	c.1916G>A	c.(1915-1917)tGa>tAa	p.*639*		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	0					cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.*639*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AACAGTAGATCACTTGGTGGA	0.517																																						ENST00000332411.2																			1	Substitution - coding silent(1)	p.*639*(1)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1915-1917)tGa>tAa		keratin 76							170.0	171.0	171.0					12																	53162498		2203	4300	6503	SO:0001819	synonymous_variant	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53162498C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1916G>A	12.37:g.53162498C>T							p.*639*	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			9	1969	-			0					B4DRR3|Q7Z795	Silent	SNP	ENST00000332411.2	37	c.1916G>A	CCDS8838.1																																																																																				0.517	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		50	261	0	0	0	1	0	50	261				
HOMER1	9456	broad.mit.edu	37	5	78697880	78697880	+	Splice_Site	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:78697880T>A	ENST00000334082.6	-	6	1970		c.e6-2		HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Splice_Site|HOMER1_ENST00000282260.6_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)						behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATTGCTGAACTAAAATAAAAC	0.408																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.e6-2		homer homolog 1 (Drosophila)							44.0	41.0	42.0					5																	78697880		1853	4089	5942	SO:0001630	splice_region_variant	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78697880T>A	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.528-2A>T	5.37:g.78697880T>A						HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Splice_Site		NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	6	1970	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)						B2R688|O96003|Q86YM5	Splice_Site	SNP	ENST00000334082.6	37		CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020657	0.54576	.	.	ENSG00000152413	ENST00000334082;ENST00000535690	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.571	0.76337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HOMER1	78733636	1.000000	0.71417	0.988000	0.46212	0.710000	0.40934	4.691000	0.61738	2.138000	0.66242	0.459000	0.35465	.		0.408	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272	Intron	3	22	0	0	0	1	0	3	22				
POLE	5426	broad.mit.edu	37	12	133219900	133219900	+	Missense_Mutation	SNP	G	G	C	rs536917758		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:133219900G>C	ENST00000320574.5	-	35	4504	c.4461C>G	c.(4459-4461)atC>atG	p.I1487M	POLE_ENST00000535270.1_Missense_Mutation_p.I1460M|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1487					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.I1487M(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGTACAGGTAGATATGGCGGA	0.592								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			2	Substitution - Missense(2)	p.I1487M(2)	kidney(2)	NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4459-4461)atC>atG	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							143.0	129.0	134.0					12																	133219900		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133219900G>C		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4461C>G	12.37:g.133219900G>C	ENSP00000322570:p.Ile1487Met					POLE_ENST00000535270.1_Missense_Mutation_p.I1460M	p.I1487M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	35	4504	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1487					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4461C>G	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593682	0.28445	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.03181	4.02;4.02;4.02	5.96	5.96	0.96718	.	0.222194	0.53938	D	0.000043	T	0.11793	0.0287	M	0.81239	2.535	0.53005	D	0.999964	B;B	0.26512	0.112;0.151	B;B	0.33620	0.167;0.08	T	0.01762	-1.1279	10	0.54805	T	0.06	0.1224	20.3928	0.98949	0.0:0.0:1.0:0.0	.	1460;1487	F5H1D6;Q07864	.;DPOE1_HUMAN	M	1487;1498;1460	ENSP00000322570:I1487M;ENSP00000406383:I1498M;ENSP00000445753:I1460M	ENSP00000322570:I1487M	I	-	3	3	POLE	131729973	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	3.493000	0.53266	2.813000	0.96785	0.655000	0.94253	ATC		0.592	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		71	59	0	0	0	1	0	71	59				
SLC25A33	84275	broad.mit.edu	37	1	9613721	9613721	+	Silent	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:9613721C>T	ENST00000302692.6	+	2	304	c.94C>T	c.(94-96)Cta>Tta	p.L32L		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	32					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CACTTGTCCACTAGAAGTCAT	0.458																																						ENST00000302692.6																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9						c.(94-96)Cta>Tta		solute carrier family 25 (pyrimidine nucleotide carrier), member 33							128.0	124.0	125.0					1																	9613721		2203	4300	6503	SO:0001819	synonymous_variant	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9613721C>T	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.94C>T	1.37:g.9613721C>T							p.L32L	NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	2	304	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	32						Silent	SNP	ENST00000302692.6	37	c.94C>T	CCDS103.1																																																																																				0.458	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		87	583	0	0	0	1	0	87	583				
USP26	83844	broad.mit.edu	37	X	132160273	132160273	+	Missense_Mutation	SNP	G	G	A	rs145695346	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chrX:132160273G>A	ENST00000511190.1	-	6	2445	c.1976C>T	c.(1975-1977)aCg>aTg	p.T659M	USP26_ENST00000370832.1_Missense_Mutation_p.T659M|USP26_ENST00000406273.1_Missense_Mutation_p.T659M	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	659	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTCCAGATACGTCATTAAGTG	0.418													G|||	2	0.000529801	0.0	0.0029	3775	,	,		12222	0.0		0.0	False		,,,				2504	0.0				NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	GRCh37	CM056717	USP26	M	rs145695346	c.(1975-1977)aCg>aTg		ubiquitin specific peptidase 26		G	MET/THR	0,3835		0,0,0,1632,571	104.0	93.0	97.0		1976	-7.1	0.0	X	dbSNP_134	97	16,6712		0,12,4,2416,1868	yes	missense	USP26	NM_031907.1	81	0,12,4,4048,2439	AA,AG,A,GG,G		0.2378,0.0,0.1515	benign	659/914	132160273	16,10547	2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160273G>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1976C>T	X.37:g.132160273G>A	ENSP00000423390:p.Thr659Met					USP26_ENST00000370832.1_Missense_Mutation_p.T659M|USP26_ENST00000406273.1_Missense_Mutation_p.T659M	p.T659M	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	2445	-	Acute lymphoblastic leukemia(192;0.000127)		659					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1976C>T	CCDS14635.1	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	3.469	-0.108305	0.06924	0.0	0.002378	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.52295	0.67;0.67;0.67	3.53	-7.06	0.01568	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.09992	0.0245	N	0.00142	-2.005	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40683	-0.9550	9	0.45353	T	0.12	-8.0E-4	4.0615	0.09841	0.1324:0.3781:0.3744:0.1151	.	659	Q9BXU7	UBP26_HUMAN	M	659	ENSP00000359869:T659M;ENSP00000423390:T659M;ENSP00000384360:T659M	ENSP00000359869:T659M	T	-	2	0	USP26	131987939	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.065000	0.03458	-2.494000	0.00514	-0.380000	0.06706	ACG		0.418	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		6	127	0	0	0	1	0	6	127				
XPOT	11260	broad.mit.edu	37	12	64827305	64827305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:64827305C>T	ENST00000332707.5	+	19	2903	c.2374C>T	c.(2374-2376)Cag>Tag	p.Q792*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	792	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.Q792*(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTTAGAGAAGCAGATGTTGCG	0.468																																						ENST00000332707.5																			1	Substitution - Nonsense(1)	p.Q792*(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2374-2376)Cag>Tag		exportin, tRNA							125.0	122.0	123.0					12																	64827305		2203	4300	6503	SO:0001587	stop_gained	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64827305C>T	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2374C>T	12.37:g.64827305C>T	ENSP00000327821:p.Gln792*						p.Q792*	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	19	2903	+			792			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Nonsense_Mutation	SNP	ENST00000332707.5	37	c.2374C>T	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	42	9.418179	0.99164	.	.	ENSG00000184575	ENST00000332707	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6484	0.91419	0.0:1.0:0.0:0.0	.	.	.	.	X	792	.	.	Q	+	1	0	XPOT	63113572	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	7.655000	0.83696	2.478000	0.83669	0.650000	0.86243	CAG		0.468	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		25	387	0	0	0	1	0	25	387				
RSPO1	284654	broad.mit.edu	37	1	38079565	38079565	+	Splice_Site	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:38079565C>A	ENST00000401069.1	-	6	1149		c.e6-1		RSPO1_ENST00000401068.1_Splice_Site|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000373059.1_Splice_Site|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000356545.2_Splice_Site	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1						canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCACATTGCGCTGGCAGGAAG	0.607																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.e7-1		R-spondin 1							45.0	47.0	47.0					1																	38079565		1960	4145	6105	SO:0001630	splice_region_variant	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38079565C>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.437-1G>T	1.37:g.38079565C>A						RSPO1_ENST00000401069.1_Splice_Site|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000373059.1_Splice_Site|RSPO1_ENST00000401068.1_Splice_Site		NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			7	1224	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Splice_Site	SNP	ENST00000401069.1	37		CCDS41304.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170943	0.78452	.	.	ENSG00000169218	ENST00000373059;ENST00000356545;ENST00000401069;ENST00000401068	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.254	0.93938	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RSPO1	37852152	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	3.986000	0.56937	2.538000	0.85594	0.655000	0.94253	.		0.607	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640	Intron	7	62	1	0	0.307466	1	0.309184	7	62				
PKHD1	5314	broad.mit.edu	37	6	51935825	51935825	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:51935825G>T	ENST00000371117.3	-	9	921	c.646C>A	c.(646-648)Cat>Aat	p.H216N	PKHD1_ENST00000340994.4_Missense_Mutation_p.H216N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	216	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.H216N(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTTCCACATGGCACTGCAGA	0.413																																						ENST00000371117.3																			2	Substitution - Missense(2)	p.H216N(2)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(646-648)Cat>Aat		polycystic kidney and hepatic disease 1 (autosomal recessive)							99.0	95.0	96.0					6																	51935825		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51935825G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.646C>A	6.37:g.51935825G>T	ENSP00000360158:p.His216Asn					PKHD1_ENST00000340994.4_Missense_Mutation_p.H216N	p.H216N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			9	921	-	Lung NSC(77;0.0605)		216			IPT/TIG 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.646C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	9.368	1.069877	0.20147	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86694	-1.95;-2.16	5.18	5.18	0.71444	.	0.188802	0.36932	N	0.002337	T	0.63570	0.2522	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.53940	-0.8367	10	0.36615	T	0.2	.	16.0676	0.80897	0.0:0.0:1.0:0.0	.	216;216	P08F94-2;P08F94	.;PKHD1_HUMAN	N	216	ENSP00000360158:H216N;ENSP00000341097:H216N	ENSP00000341097:H216N	H	-	1	0	PKHD1	52043784	1.000000	0.71417	0.180000	0.23079	0.009000	0.06853	3.938000	0.56583	2.697000	0.92050	0.650000	0.86243	CAT		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		36	166	1	0	4.07013e-28	1	4.78839e-28	36	166				
RAET1G	353091	broad.mit.edu	37	6	150240312	150240312	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:150240312T>A	ENST00000367360.2	-	3	565	c.498A>T	c.(496-498)agA>agT	p.R166S	RAET1G_ENST00000479265.1_Missense_Mutation_p.R166S|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G									p.R166S(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CTTTCATCTTTCTGGCTCCAG	0.473																																						ENST00000367360.2																			1	Substitution - Missense(1)	p.R166S(1)	kidney(1)	NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(496-498)agA>agT		retinoic acid early transcript 1G							242.0	226.0	231.0					6																	150240312		2203	4300	6503	SO:0001583	missense	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240312T>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.498A>T	6.37:g.150240312T>A	ENSP00000356329:p.Arg166Ser					RP11-244K5.1_ENST00000446954.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.R166S|RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA	p.R166S	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	3	565	-		Ovarian(120;0.0907)	166			MHC class I alpha-2 like.			Missense_Mutation	SNP	ENST00000367360.2	37	c.498A>T	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	T	6.796	0.515840	0.12944	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.59224	0.28;0.28	2.4	-2.07	0.07276	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.28366	0.0701	L	0.43152	1.355	0.09310	N	1	B	0.32425	0.371	B	0.40101	0.319	T	0.43988	-0.9357	9	0.59425	D	0.04	.	3.2898	0.06945	0.0:0.3173:0.3169:0.3658	.	166	Q6H3X3	RET1G_HUMAN	S	166	ENSP00000356329:R166S;ENSP00000417503:R166S	ENSP00000356329:R166S	R	-	3	2	RAET1G	150282005	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.065000	0.03458	-0.435000	0.07264	0.414000	0.27820	AGA		0.473	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			85	280	0	0	0	1	0	85	280				
SH3RF1	57630	broad.mit.edu	37	4	170077770	170077770	+	Missense_Mutation	SNP	C	C	G	rs144629121	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:170077770C>G	ENST00000284637.9	-	3	795	c.454G>C	c.(454-456)Gac>Cac	p.D152H	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	152	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		AATTTAAGGTCTCCAGGCTCT	0.373													C|||	9	0.00179712	0.0	0.0029	5008	,	,		19090	0.0		0.007	False		,,,				2504	0.0					ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(454-456)Gac>Cac		SH3 domain containing ring finger 1		C	HIS/ASP	2,4404	4.2+/-10.8	0,2,2201	123.0	129.0	127.0		454	5.8	1.0	4	dbSNP_134	127	37,8563	24.6+/-71.5	0,37,4263	yes	missense	SH3RF1	NM_020870.3	81	0,39,6464	GG,GC,CC		0.4302,0.0454,0.2999	probably-damaging	152/889	170077770	39,12967	2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170077770C>G	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.454G>C	4.37:g.170077770C>G	ENSP00000284637:p.Asp152His					SH3RF1_ENST00000508685.1_5'UTR	p.D152H	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	3	795	-		Prostate(90;0.00267)|Renal(120;0.0183)	152			SH3 1.		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.454G>C	CCDS34099.1	8	0.003663003663003663	0	0.0	2	0.0055248618784530384	0	0.0	6	0.0079155672823219	C	24.9	4.578396	0.86645	4.54E-4	0.004302	ENSG00000154447	ENST00000284637	T	0.47869	0.83	5.76	5.76	0.90799	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.65354	0.2683	M	0.79805	2.47	0.80722	D	1	D	0.61697	0.99	D	0.71184	0.972	T	0.69499	-0.5129	10	0.52906	T	0.07	-34.1621	20.3242	0.98691	0.0:1.0:0.0:0.0	.	152	Q7Z6J0	SH3R1_HUMAN	H	152	ENSP00000284637:D152H	ENSP00000284637:D152H	D	-	1	0	SH3RF1	170314345	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.445000	0.80570	2.882000	0.98803	0.655000	0.94253	GAC		0.373	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		12	96	0	0	0	1	0	12	96				
UTP18	51096	broad.mit.edu	37	17	49340732	49340732	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:49340732A>G	ENST00000225298.7	+	2	497	c.440A>G	c.(439-441)gAt>gGt	p.D147G		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	147					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D147G(1)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GATGAAGAAGATGAAGATGAG	0.358																																						ENST00000225298.7																			1	Substitution - Missense(1)	p.D147G(1)	kidney(1)	breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(439-441)gAt>gGt		UTP18 small subunit (SSU) processome component homolog (yeast)							103.0	104.0	104.0					17																	49340732		1869	4115	5984	SO:0001583	missense	51096				rRNA processing	nucleolus		g.chr17:49340732A>G	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.440A>G	17.37:g.49340732A>G	ENSP00000225298:p.Asp147Gly						p.D147G	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		2	497	+			147					Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	c.440A>G	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678889	0.68042	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.31769	1.48	4.63	4.63	0.57726	.	0.106946	0.64402	D	0.000008	T	0.57681	0.2070	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.65417	-0.6173	10	0.87932	D	0	-26.0225	12.9573	0.58434	1.0:0.0:0.0:0.0	.	147	Q9Y5J1	UTP18_HUMAN	G	147;123	ENSP00000225298:D147G	ENSP00000225298:D147G	D	+	2	0	UTP18	46695731	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.989000	0.63870	2.015000	0.59207	0.460000	0.39030	GAT		0.358	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		38	154	0	0	0	1	0	38	154				
RAB28	9364	broad.mit.edu	37	4	13378197	13378197	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:13378197A>T	ENST00000330852.5	-	6	759	c.545T>A	c.(544-546)tTa>tAa	p.L182*	RAB28_ENST00000288723.4_Nonsense_Mutation_p.L182*|RAB28_ENST00000338176.4_Nonsense_Mutation_p.L182*	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	182					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TGCTTTGTTTAATTTGATCCC	0.303																																						ENST00000288723.4																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						c.(544-546)tTa>tAa		RAB28, member RAS oncogene family							76.0	71.0	73.0					4																	13378197		2203	4299	6502	SO:0001587	stop_gained	9364				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr4:13378197A>T	X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"""RAB, member RAS oncogene"""	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.545T>A	4.37:g.13378197A>T	ENSP00000328551:p.Leu182*					RAB28_ENST00000338176.4_Nonsense_Mutation_p.L182*|RAB28_ENST00000330852.5_Nonsense_Mutation_p.L182*	p.L182*	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN			6	759	-			182					G8JLC5|Q8IYR8|Q8NI05	Nonsense_Mutation	SNP	ENST00000330852.5	37	c.545T>A	CCDS33961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	38|38	6.908514|6.908514	0.97928|0.97928	.|.	.|.	ENSG00000157869|ENSG00000157869	ENST00000330852;ENST00000288723;ENST00000338176|ENST00000504644	.|.	.|.	.|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.089559|.	0.47852|.	D|.	0.000202|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.17832|.	T|.	0.49|.	.|.	14.6028|14.6028	0.68453|0.68453	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|K	182|52	.|.	ENSP00000288723:L182X|.	L|X	-|-	2|1	0|0	RAB28|RAB28	12987295|12987295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.427000|8.427000	0.90275|0.90275	1.841000|1.841000	0.53522|0.53522	0.374000|0.374000	0.22700|0.22700	TTA|TAA		0.303	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979		4	56	0	0	0	1	0	4	56				
VPS13B	157680	broad.mit.edu	37	8	100887766	100887766	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:100887766G>T	ENST00000358544.2	+	62	12052	c.11941G>T	c.(11941-11943)Gtg>Ttg	p.V3981L	VPS13B_ENST00000357162.2_Missense_Mutation_p.V3956L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3981					protein transport (GO:0015031)			p.V3981L(1)|p.V3956L(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATGCCCTGTGGTGGCTGCAGA	0.468																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			2	Substitution - Missense(2)	p.V3981L(1)|p.V3956L(1)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(11941-11943)Gtg>Ttg		vacuolar protein sorting 13 homolog B (yeast)							150.0	129.0	136.0					8																	100887766		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100887766G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11941G>T	8.37:g.100887766G>T	ENSP00000351346:p.Val3981Leu					VPS13B_ENST00000357162.2_Missense_Mutation_p.V3956L|VPS13B_ENST00000395996.1_3'UTR	p.V3981L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		62	12052	+	Breast(36;3.73e-07)		3981					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.11941G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266546	0.59540	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69561	-0.4;-0.41	5.65	3.86	0.44501	.	0.217749	0.38897	N	0.001530	T	0.61337	0.2339	N	0.19112	0.55	0.80722	D	1	P;B	0.50943	0.94;0.117	P;B	0.53649	0.731;0.034	T	0.58387	-0.7645	10	0.33940	T	0.23	.	12.2247	0.54453	0.138:0.0:0.862:0.0	.	3956;3981	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	L	3956;3981	ENSP00000349685:V3956L;ENSP00000351346:V3981L	ENSP00000349685:V3956L	V	+	1	0	VPS13B	100956942	1.000000	0.71417	0.991000	0.47740	0.810000	0.45777	3.238000	0.51352	0.747000	0.32809	-0.150000	0.13652	GTG		0.468	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		11	214	1	0	4.93089e-13	1	5.5128e-13	11	214				
DPYD	1806	broad.mit.edu	37	1	98165090	98165090	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:98165090A>T	ENST00000370192.3	-	6	597	c.497T>A	c.(496-498)aTg>aAg	p.M166K	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	166			M -> V (in dbSNP:rs2297595).		beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGGGATACTCATTGCTTTGAA	0.388																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(496-498)aTg>aAg		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						124.0	126.0	125.0					1																	98165090		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98165090A>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.497T>A	1.37:g.98165090A>T	ENSP00000359211:p.Met166Lys					DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	p.M166K	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	6	597	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	166		M -> V (in dbSNP:rs2297595).			A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.497T>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.160594	0.78226	.	.	ENSG00000188641	ENST00000370192	T	0.70399	-0.48	5.26	5.26	0.73747	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78899	-0.2022	10	0.51188	T	0.08	-23.1633	15.1667	0.72833	1.0:0.0:0.0:0.0	.	166	Q12882	DPYD_HUMAN	K	166	ENSP00000359211:M166K	ENSP00000359211:M166K	M	-	2	0	DPYD	97937678	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	8.920000	0.92779	2.002000	0.58637	0.477000	0.44152	ATG		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		8	101	0	0	0	1	0	8	101				
KCNC1	3746	broad.mit.edu	37	11	17793714	17793714	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:17793714T>C	ENST00000379472.3	+	2	1103	c.1073T>C	c.(1072-1074)aTc>aCc	p.I358T	KCNC1_ENST00000265969.6_Missense_Mutation_p.I358T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	358					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)	p.I358T(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GGCGTGCTGATCTTCGCCACC	0.612																																						ENST00000379472.3																			2	Substitution - Missense(2)	p.I358T(2)	kidney(2)	breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1072-1074)aTc>aCc		potassium voltage-gated channel, Shaw-related subfamily, member 1							49.0	46.0	47.0					11																	17793714		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793714T>C	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1073T>C	11.37:g.17793714T>C	ENSP00000368785:p.Ile358Thr					KCNC1_ENST00000265969.6_Missense_Mutation_p.I358T	p.I358T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	1103	+			358					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.1073T>C	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.409492	0.62399	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.98947	-5.26;-5.26	4.95	4.95	0.65309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.964;0.999	D	0.99895	1.1144	10	0.87932	D	0	.	14.6267	0.68626	0.0:0.0:0.0:1.0	.	358;358	Q3KNS8;P48547	.;KCNC1_HUMAN	T	358	ENSP00000265969:I358T;ENSP00000368785:I358T	ENSP00000265969:I358T	I	+	2	0	KCNC1	17750290	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.040000	0.89188	1.858000	0.53909	0.459000	0.35465	ATC		0.612	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		26	61	0	0	0	1	0	26	61				
ITGA9	3680	broad.mit.edu	37	3	37670844	37670844	+	Intron	SNP	T	T	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:37670844T>G	ENST00000264741.5	+	16	2095				ITGA9_ENST00000422441.1_Missense_Mutation_p.L619R	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ACCTTAAAGCTCATACTCAGC	0.547																																						ENST00000422441.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(1855-1857)cTc>cGc		integrin, alpha 9							49.0	46.0	47.0					3																	37670844		2203	4300	6503	SO:0001627	intron_variant	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37670844T>G	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1839+17T>G	3.37:g.37670844T>G						ITGA9_ENST00000264741.5_Intron	p.L619R			Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	16	2116	+			0					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.1856T>G	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	T	9.941	1.217387	0.22373	.	.	ENSG00000144668	ENST00000422441	T	0.67865	-0.29	2.99	1.79	0.24919	.	.	.	.	.	T	0.48114	0.1482	.	.	.	0.09310	N	1	P	0.41041	0.736	B	0.38803	0.282	T	0.25847	-1.0120	8	0.25106	T	0.35	.	4.8677	0.13616	0.0:0.1516:0.0:0.8484	.	619	E9PDS3	.	R	619	ENSP00000397258:L619R	ENSP00000397258:L619R	L	+	2	0	ITGA9	37645848	0.000000	0.05858	0.009000	0.14445	0.219000	0.24729	-0.165000	0.09968	0.374000	0.24650	0.533000	0.62120	CTC		0.547	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		5	22	0	0	0	1	0	5	22				
TNFSF10	8743	broad.mit.edu	37	3	172227005	172227005	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:172227005A>T	ENST00000241261.2	-	4	541		c.e4+1		TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGTTTCTCTTACTTGGAGAAG	0.358																																						ENST00000241261.2																			0				breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15						c.e4+1		tumor necrosis factor (ligand) superfamily, member 10							92.0	88.0	89.0					3																	172227005		2203	4300	6503	SO:0001630	splice_region_variant	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172227005A>T	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.418+1T>A	3.37:g.172227005A>T						TNFSF10_ENST00000420541.2_Intron		NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		4	541	-	Ovarian(172;0.00197)|Breast(254;0.158)							A1Y9B3	Splice_Site	SNP	ENST00000241261.2	37		CCDS3219.1	.	.	.	.	.	.	.	.	.	.	A	9.342	1.063284	0.20067	.	.	ENSG00000121858	ENST00000241261	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.136	0.48375	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNFSF10	173709699	1.000000	0.71417	0.970000	0.41538	0.023000	0.10783	4.413000	0.59795	2.053000	0.61076	0.455000	0.32223	.		0.358	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1		Intron	9	161	0	0	0	1	0	9	161				
LTB	4050	broad.mit.edu	37	6	31549617	31549617	+	Missense_Mutation	SNP	G	G	T	rs527252991		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:31549617G>T	ENST00000429299.2	-	2	189	c.182C>A	c.(181-183)cCc>cAc	p.P61H	LTB_ENST00000446745.2_Intron|LTB_ENST00000483972.1_Intron	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	61				DPGAQAQQGL -> GLSAPGSGRT (in Ref. 2; AAB37342). {ECO:0000305}.	cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						CTGTGCCCCGGGGTCGGCCGT	0.627																																						ENST00000429299.2																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(181-183)cCc>cAc		lymphotoxin beta (TNF superfamily, member 3)	Infliximab(DB00065)|Simvastatin(DB00641)						87.0	97.0	94.0					6																	31549617		1509	2709	4218	SO:0001583	missense	4050				cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31549617G>T	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"""Tumor necrosis factor (ligand) superfamily"""	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.182C>A	6.37:g.31549617G>T	ENSP00000410481:p.Pro61His					LTB_ENST00000483972.1_Intron|LTB_ENST00000446745.2_Intron	p.P61H	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN			2	189	-			61	DPGAQAQQGL -> GLSAPGSGRT (in Ref. 2; AAB37342).				P78370|Q52LU8|Q99761	Missense_Mutation	SNP	ENST00000429299.2	37	c.182C>A	CCDS4703.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272434	0.59649	.	.	ENSG00000227507	ENST00000429299	T	0.23147	1.92	5.45	1.62	0.23740	.	0.261873	0.32314	N	0.006270	T	0.09113	0.0225	L	0.59436	1.845	0.09310	N	0.999994	P	0.40000	0.698	B	0.40329	0.326	T	0.22487	-1.0215	10	0.29301	T	0.29	-0.0199	4.9325	0.13925	0.2533:0.1532:0.5935:0.0	.	61	Q06643	TNFC_HUMAN	H	61	ENSP00000410481:P61H	ENSP00000410481:P61H	P	-	2	0	LTB	31657596	0.125000	0.22332	0.000000	0.03702	0.247000	0.25773	0.004000	0.13106	0.013000	0.14918	-0.140000	0.14226	CCC		0.627	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			12	84	1	0	8.60227e-14	1	9.73842e-14	12	84				
SYNE1	23345	broad.mit.edu	37	6	152711518	152711518	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:152711518A>T	ENST00000367255.5	-	53	8675	c.8074T>A	c.(8074-8076)Ttg>Atg	p.L2692M	SYNE1_ENST00000448038.1_Missense_Mutation_p.L2699M|SYNE1_ENST00000265368.4_Missense_Mutation_p.L2692M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2731M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2699M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2692					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L2692M(2)|p.L2699M(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTACTTCTCAAGGCCTGTTCC	0.473										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - Missense(3)	p.L2692M(2)|p.L2699M(1)	kidney(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8074-8076)Ttg>Atg		spectrin repeat containing, nuclear envelope 1							189.0	145.0	160.0					6																	152711518		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152711518A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8074T>A	6.37:g.152711518A>T	ENSP00000356224:p.Leu2692Met	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.L2692M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2731M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L2699M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2699M	p.L2692M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	53	8675	-		Ovarian(120;0.0955)	2692					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8074T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	12.76	2.035548	0.35893	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	6.17	1.1	0.20463	.	0.281376	0.24089	N	0.041647	T	0.11750	0.0286	L	0.40543	1.245	0.80722	D	1	B;B;B;P	0.38223	0.199;0.35;0.35;0.623	B;B;B;B	0.36378	0.03;0.111;0.111;0.223	T	0.09684	-1.0663	10	0.37606	T	0.19	.	0.4271	0.00465	0.2889:0.1353:0.1867:0.3892	.	2675;2692;2692;2699	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	2692;2699;2692;2699;2731	ENSP00000356224:L2692M;ENSP00000396024:L2699M;ENSP00000265368:L2692M;ENSP00000390975:L2699M;ENSP00000341887:L2731M	ENSP00000265368:L2692M	L	-	1	2	SYNE1	152753211	0.899000	0.30636	0.999000	0.59377	0.996000	0.88848	0.618000	0.24373	0.170000	0.19704	-0.250000	0.11733	TTG		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		11	123	0	0	0	1	0	11	123				
MFAP3L	9848	broad.mit.edu	37	4	170912627	170912627	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:170912627C>A	ENST00000361618.3	-	3	1439	c.1132G>T	c.(1132-1134)Gta>Tta	p.V378L	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.V275L	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	378						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TTATCTGGTACCTCAACAGGT	0.502																																						ENST00000361618.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1132-1134)Gta>Tta		microfibrillar-associated protein 3-like							164.0	138.0	147.0					4																	170912627		2203	4300	6503	SO:0001583	missense	9848					integral to membrane|plasma membrane		g.chr4:170912627C>A	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.1132G>T	4.37:g.170912627C>A	ENSP00000354583:p.Val378Leu					RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.V275L	p.V378L	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	1439	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	378					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	c.1132G>T	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	C	1.788	-0.480143	0.04383	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	D;D	0.98234	-4.81;-1.85	5.0	4.15	0.48705	.	1.521130	0.03847	N	0.271637	D	0.96237	0.8773	L	0.40543	1.245	0.39462	D	0.967581	B	0.10296	0.003	B	0.09377	0.004	D	0.83473	0.0060	10	0.18710	T	0.47	-0.6987	10.6208	0.45478	0.1915:0.8085:0.0:0.0	.	378	O75121	MFA3L_HUMAN	L	275;378	ENSP00000377307:V275L;ENSP00000354583:V378L	ENSP00000354583:V378L	V	-	1	0	MFAP3L	171149202	0.002000	0.14202	0.113000	0.21522	0.004000	0.04260	0.343000	0.19944	1.308000	0.44962	-0.188000	0.12872	GTA		0.502	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		38	497	1	0	2.40579e-17	1	2.75823e-17	38	497				
LRP2	4036	broad.mit.edu	37	2	170134463	170134463	+	Splice_Site	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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	34	0	0	0	1	0	4	34				
PHLPP2	23035	broad.mit.edu	37	16	71682850	71682850	+	Silent	SNP	A	A	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:71682850A>G	ENST00000568954.1	-	19	4293	c.3915T>C	c.(3913-3915)ccT>ccC	p.P1305P	PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Silent_p.P1305P|PHLPP2_ENST00000567016.1_Silent_p.P1340P|PHLPP2_ENST00000393524.2_Silent_p.P1238P			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1305					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.P1305P(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CATGGGGCTCAGGCTCGAGCC	0.582																																						ENST00000393524.2																			1	Substitution - coding silent(1)	p.P1305P(1)	kidney(1)	central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3712-3714)ccT>ccC		PH domain and leucine rich repeat protein phosphatase 2							73.0	69.0	71.0					16																	71682850		2198	4300	6498	SO:0001819	synonymous_variant	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71682850A>G	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3915T>C	16.37:g.71682850A>G						PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000356272.3_Silent_p.P1305P|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000568954.1_Silent_p.P1305P|PHLPP2_ENST00000567016.1_Silent_p.P1340P	p.P1238P			Q6ZVD8	PHLP2_HUMAN			17	4447	-			1305					A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	c.3714T>C	CCDS32479.1																																																																																				0.582	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		54	91	0	0	0	1	0	54	91				
KIF15	56992	broad.mit.edu	37	3	44856401	44856401	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:44856401A>T	ENST00000326047.4	+	20	2532		c.e20-1		KIF15_ENST00000425755.1_Splice_Site	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTTGTTTTTTAGTTTTGAAAA	0.358																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.e20-1		kinesin family member 15							81.0	81.0	81.0					3																	44856401		2203	4300	6503	SO:0001630	splice_region_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44856401A>T	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2384-1A>T	3.37:g.44856401A>T						KIF15_ENST00000425755.1_Splice_Site		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	20	2532	+								Q17RV9|Q69YL6|Q96JX7|Q9H280	Splice_Site	SNP	ENST00000326047.4	37		CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884123	0.72410	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4799	0.75517	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF15	44831405	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.323000	0.79105	2.200000	0.70718	0.482000	0.46254	.		0.358	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		Intron	6	78	0	0	0	1	0	6	78				
PRKAR2B	5577	broad.mit.edu	37	7	106793620	106793620	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:106793620A>T	ENST00000265717.4	+	8	1102		c.e8-1			NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CTTTCTTTGTAGTTTTCTGAA	0.333																																						ENST00000265717.4																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						c.e8-1		protein kinase, cAMP-dependent, regulatory, type II, beta							66.0	70.0	69.0					7																	106793620		2203	4299	6502	SO:0001630	splice_region_variant	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106793620A>T		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.844-1A>T	7.37:g.106793620A>T								NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN			8	1102	+								A4D0R9	Splice_Site	SNP	ENST00000265717.4	37		CCDS5740.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.021589	0.93462	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4578	0.84025	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKAR2B	106580856	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	9.170000	0.94795	2.288000	0.76882	0.482000	0.46254	.		0.333	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1		Intron	4	44	0	0	0	1	0	4	44				
SARS	6301	broad.mit.edu	37	1	109772058	109772058	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:109772058A>G	ENST00000234677.2	+	4	386	c.311A>G	c.(310-312)aAa>aGa	p.K104R	SARS_ENST00000369923.4_Missense_Mutation_p.K104R	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	104					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)	p.K104R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TCACAAATCAAAAAAGTCCGA	0.502																																						ENST00000369923.4																			1	Substitution - Missense(1)	p.K104R(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17						c.(310-312)aAa>aGa		seryl-tRNA synthetase	L-Serine(DB00133)						198.0	208.0	205.0					1																	109772058		2203	4300	6503	SO:0001583	missense	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109772058A>G	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.311A>G	1.37:g.109772058A>G	ENSP00000234677:p.Lys104Arg					SARS_ENST00000234677.2_Missense_Mutation_p.K104R	p.K104R			P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	4	322	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	104					B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	c.311A>G	CCDS795.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.696631	0.68386	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.42900	0.96;0.96	5.77	5.77	0.91146	tRNA-binding arm (1);	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	M	0.62154	1.92	0.80722	D	1	P;B;B;P	0.36974	0.576;0.06;0.424;0.576	B;B;B;B	0.43916	0.287;0.126;0.436;0.287	T	0.23691	-1.0181	10	0.38643	T	0.18	-16.5557	15.8091	0.78543	1.0:0.0:0.0:0.0	.	104;104;104;104	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	R	104	ENSP00000234677:K104R;ENSP00000358939:K104R	ENSP00000234677:K104R	K	+	2	0	SARS	109573581	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.272000	0.95707	2.212000	0.71576	0.529000	0.55759	AAA		0.502	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		78	639	0	0	0	1	0	78	639				
EGFR	1956	broad.mit.edu	37	7	55223621	55223621	+	Missense_Mutation	SNP	G	G	A	rs139429793		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:55223621G>A	ENST00000275493.2	+	8	1165	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	EGFR_ENST00000455089.1_Missense_Mutation_p.E285K|EGFR_ENST00000442591.1_Missense_Mutation_p.E330K|EGFR_ENST00000342916.3_Missense_Mutation_p.E330K|EGFR_ENST00000420316.2_Missense_Mutation_p.E330K|EGFR_ENST00000344576.2_Missense_Mutation_p.E330K|EGFR_ENST00000454757.2_Missense_Mutation_p.E277K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	330					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TAAGAAGTGCGAAGGGCCTTG	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(988-990)Gaa>Aaa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	36.0	33.0	34.0		988,988,988,988	5.6	0.9	7	dbSNP_134	34	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense,missense	EGFR	NM_005228.3,NM_201282.1,NM_201283.1,NM_201284.1	56,56,56,56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign,benign	330/1211,330/629,330/406,330/706	55223621	3,13003	2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223621G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.988G>A	7.37:g.55223621G>A	ENSP00000275493:p.Glu330Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000455089.1_Missense_Mutation_p.E285K|EGFR_ENST00000420316.2_Missense_Mutation_p.E330K|EGFR_ENST00000454757.2_Missense_Mutation_p.E277K|EGFR_ENST00000344576.2_Missense_Mutation_p.E330K|EGFR_ENST00000442591.1_Missense_Mutation_p.E330K|EGFR_ENST00000342916.3_Missense_Mutation_p.E330K	p.E330K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1165	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		330					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.988G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	9.290	1.050433	0.19827	0.0	3.49E-4	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.353241	0.35772	N	0.002995	T	0.38904	0.1058	L	0.49699	1.58	0.45025	D	0.998047	B;B;P;P;B	0.47191	0.169;0.046;0.891;0.493;0.044	B;B;B;B;B	0.38225	0.027;0.018;0.268;0.094;0.007	T	0.20571	-1.0271	10	0.31617	T	0.26	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	285;330;330;330;330	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	285;330;200;330;330;330;330;277;124	ENSP00000415559:E285K;ENSP00000342376:E330K;ENSP00000345973:E330K;ENSP00000413843:E330K;ENSP00000275493:E330K;ENSP00000410031:E330K;ENSP00000395243:E277K	ENSP00000275493:E330K	E	+	1	0	EGFR	55191115	1.000000	0.71417	0.923000	0.36655	0.293000	0.27360	4.587000	0.60991	2.655000	0.90218	0.655000	0.94253	GAA		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		22	21	0	0	0	1	0	22	21				
ZBTB41	360023	broad.mit.edu	37	1	197168567	197168567	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:197168567T>C	ENST00000367405.4	-	1	1105	c.1037A>G	c.(1036-1038)gAg>gGg	p.E346G	ZBTB41_ENST00000467322.1_5'UTR|CRB1_ENST00000535699.1_5'Flank	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	346					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.E346G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGTTAACCCCTCATGAACATT	0.373																																						ENST00000367405.4																			1	Substitution - Missense(1)	p.E346G(1)	kidney(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1036-1038)gAg>gGg		zinc finger and BTB domain containing 41							119.0	115.0	116.0					1																	197168567		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197168567T>C		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1037A>G	1.37:g.197168567T>C	ENSP00000356375:p.Glu346Gly					ZBTB41_ENST00000467322.1_5'UTR	p.E346G	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			1	1105	-			346					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.1037A>G	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.447985	0.43429	.	.	ENSG00000177888	ENST00000367405	T	0.06371	3.31	4.51	4.51	0.55191	.	0.000000	0.40222	U	0.001153	T	0.05868	0.0153	L	0.27053	0.805	0.58432	D	0.999994	B	0.27498	0.18	B	0.19946	0.027	T	0.32798	-0.9893	10	0.59425	D	0.04	.	13.8884	0.63724	0.0:0.0:0.0:1.0	.	346	Q5SVQ8	ZBT41_HUMAN	G	346	ENSP00000356375:E346G	ENSP00000356375:E346G	E	-	2	0	ZBTB41	195435190	1.000000	0.71417	0.990000	0.47175	0.847000	0.48162	4.862000	0.62976	1.673000	0.50895	0.248000	0.18094	GAG		0.373	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		48	154	0	0	0	1	0	48	154				
FNBP4	23360	broad.mit.edu	37	11	47738989	47738989	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:47738989C>T	ENST00000263773.5	-	17	3051	c.3039G>A	c.(3037-3039)atG>atA	p.M1013I	AGBL2_ENST00000298861.4_5'Flank|AGBL2_ENST00000528244.1_5'Flank|AGBL2_ENST00000529712.1_5'Flank|AGBL2_ENST00000357610.3_5'Flank|AGBL2_ENST00000525123.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	1013						nucleus (GO:0005634)		p.M1013I(1)|p.M1013_A1014>IS(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TGTTTGGAGCCATTTTCCTTC	0.333																																						ENST00000263773.5																			2	Substitution - Missense(1)|Complex - compound substitution(1)	p.M1013I(1)|p.M1013_A1014>IS(1)	kidney(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(3037-3039)atG>atA		formin binding protein 4							76.0	70.0	72.0					11																	47738989		1821	4077	5898	SO:0001583	missense	23360							g.chr11:47738989C>T	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.3039G>A	11.37:g.47738989C>T	ENSP00000263773:p.Met1013Ile						p.M1013I	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			17	3051	-			1013					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.3039G>A	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878445	0.33162	.	.	ENSG00000109920	ENST00000263773	T	0.30981	1.51	5.79	2.7	0.31948	.	0.147197	0.64402	D	0.000010	T	0.21186	0.0510	L	0.44542	1.39	0.34271	D	0.680999	B	0.20164	0.042	B	0.13407	0.009	T	0.16217	-1.0410	10	0.41790	T	0.15	-8.1169	4.5797	0.12253	0.1838:0.5801:0.1021:0.1339	.	1013	Q8N3X1	FNBP4_HUMAN	I	1013	ENSP00000263773:M1013I	ENSP00000263773:M1013I	M	-	3	0	FNBP4	47695565	0.164000	0.22935	0.996000	0.52242	0.845000	0.48019	0.379000	0.20585	1.454000	0.47793	0.655000	0.94253	ATG		0.333	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			10	124	0	0	0	1	0	10	124				
XPC	7508	broad.mit.edu	37	3	14200007	14200007	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:14200007T>A	ENST00000285021.7	-	9	1590	c.1376A>T	c.(1375-1377)gAt>gTt	p.D459V	XPC_ENST00000449060.2_Missense_Mutation_p.D422V	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	459	Asp/Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.D459V(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGTTCGGAATCCTCATCAGA	0.577			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Substitution - Missense(1)	p.D459V(1)	kidney(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1375-1377)gAt>gTt	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							42.0	45.0	44.0					3																	14200007		1568	3582	5150	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14200007T>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1376A>T	3.37:g.14200007T>A	ENSP00000285021:p.Asp459Val					XPC_ENST00000449060.2_Missense_Mutation_p.D422V	p.D459V	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			9	1590	-			459			Asp/Glu-rich (acidic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.1376A>T	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.523093	0.27211	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000545431	T;T	0.37915	1.17;1.21	5.8	2.06	0.26882	.	0.949150	0.09000	N	0.863151	T	0.44829	0.1312	M	0.69823	2.125	0.34609	D	0.717376	P;P	0.51653	0.933;0.947	P;P	0.49665	0.618;0.599	T	0.52351	-0.8587	10	0.72032	D	0.01	-4.1093	5.9076	0.19010	0.1233:0.1341:0.0:0.7426	.	422;459	E9PH69;Q01831	.;XPC_HUMAN	V	459;422;49	ENSP00000285021:D459V;ENSP00000404002:D422V	ENSP00000285021:D459V	D	-	2	0	XPC	14175010	0.582000	0.26749	0.002000	0.10522	0.034000	0.12701	1.764000	0.38471	0.112000	0.17975	0.533000	0.62120	GAT		0.577	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		10	30	0	0	0	1	0	10	30				
DST	667	broad.mit.edu	37	6	56373370	56373370	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:56373370C>A	ENST00000361203.3	-	70	18243	c.18236G>T	c.(18235-18237)gGa>gTa	p.G6079V	DST_ENST00000370769.4_Missense_Mutation_p.G6190V|DST_ENST00000446842.2_Missense_Mutation_p.G5864V|DST_ENST00000370754.5_Missense_Mutation_p.G6368V|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.G4102V|DST_ENST00000244364.6_Missense_Mutation_p.G3776V|DST_ENST00000370788.2_Missense_Mutation_p.G3993V|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	6071					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGATCAATTCCAGGATCTTC	0.378																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(19102-19104)gGa>gTa		dystonin							178.0	173.0	175.0					6																	56373370		1859	4098	5957	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56373370C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18236G>T	6.37:g.56373370C>A	ENSP00000354508:p.Gly6079Val					DST_ENST00000370769.4_Missense_Mutation_p.G6190V|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.G5864V|DST_ENST00000421834.2_Missense_Mutation_p.G4102V|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.G3776V|DST_ENST00000370788.2_Missense_Mutation_p.G3993V|DST_ENST00000361203.3_Missense_Mutation_p.G6079V	p.G6368V			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		75	19102	-	Lung NSC(77;0.103)		6188					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.19103G>T		.	.	.	.	.	.	.	.	.	.	C	18.37	3.608137	0.66558	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.56776	0.99;0.99;0.99;0.99;0.99;0.99;0.44	6.06	5.19	0.71726	.	0.117142	0.38058	N	0.001831	T	0.64011	0.2560	M	0.68952	2.095	0.37588	D	0.920083	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.652;0.998	D;D;D;B;D	0.97110	1.0;1.0;1.0;0.307;0.976	T	0.67589	-0.5632	9	0.48119	T	0.1	.	16.6528	0.85221	0.131:0.869:0.0:0.0	.	4102;6190;6368;6188;3776	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	3776;6368;6190;4102;5864;3993;6079;192	ENSP00000244364:G3776V;ENSP00000359790:G6368V;ENSP00000359805:G6190V;ENSP00000400883:G4102V;ENSP00000393645:G5864V;ENSP00000359824:G3993V;ENSP00000354508:G6079V	ENSP00000244364:G3776V	G	-	2	0	DST	56481329	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	7.818000	0.86416	1.537000	0.49254	0.650000	0.86243	GGA		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		12	243	1	0	9.31168e-06	1	9.9768e-06	12	243				
CGA	1081	broad.mit.edu	37	6	87795978	87795978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:87795978G>T	ENST00000369582.2	-	3	363	c.263C>A	c.(262-264)tCa>tAa	p.S88*	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	88					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		CCTGTTATATGATTTAGCTAC	0.453																																						ENST00000369582.2																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15						c.(262-264)tCa>tAa		glycoprotein hormones, alpha polypeptide							165.0	163.0	163.0					6																	87795978		2203	4300	6503	SO:0001587	stop_gained	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87795978G>T	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.263C>A	6.37:g.87795978G>T	ENSP00000358595:p.Ser88*						p.S88*	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	3	363	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	88						Nonsense_Mutation	SNP	ENST00000369582.2	37	c.263C>A	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192615	0.38707	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.62	4.69	0.59074	.	0.609491	0.17636	N	0.167195	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-10.4196	15.3223	0.74132	0.0:0.0:0.8595:0.1404	.	.	.	.	X	88	.	ENSP00000358595:S88X	S	-	2	0	CGA	87852697	0.895000	0.30542	1.000000	0.80357	0.011000	0.07611	3.379000	0.52440	2.644000	0.89710	0.585000	0.79938	TCA		0.453	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		8	169	1	0	1.12685e-05	1	1.19314e-05	8	169				
YTHDC2	64848	broad.mit.edu	37	5	112884236	112884236	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:112884236A>T	ENST00000161863.4	+	11	1708		c.e11-1		YTHDC2_ENST00000515883.1_Splice_Site	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2						ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TCCTTTTTTTAGTTGATTACA	0.348																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.e11-1		YTH domain containing 2							61.0	64.0	63.0					5																	112884236		2202	4300	6502	SO:0001630	splice_region_variant	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112884236A>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1496-1A>T	5.37:g.112884236A>T						YTHDC2_ENST00000515883.1_Splice_Site		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	11	1708	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)						B2RP66	Splice_Site	SNP	ENST00000161863.4	37		CCDS4113.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447481	0.84101	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7527	0.77997	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YTHDC2	112912135	1.000000	0.71417	0.957000	0.39632	0.944000	0.59088	8.996000	0.93539	2.180000	0.69256	0.455000	0.32223	.		0.348	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	Intron	4	28	0	0	0	1	0	4	28				
RUSC1	23623	broad.mit.edu	37	1	155300229	155300229	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:155300229G>T	ENST00000368352.5	+	10	2727	c.2576G>T	c.(2575-2577)aGa>aTa	p.R859I	RUSC1_ENST00000292254.4_Missense_Mutation_p.R390I|RUSC1_ENST00000368354.3_Missense_Mutation_p.R753I|RUSC1_ENST00000368349.4_Missense_Mutation_p.R390I|RUSC1_ENST00000368347.4_Missense_Mutation_p.R449I|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	859	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	p.R449I(1)|p.R390I(1)|p.R753I(1)		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)			ACTGCTGCAAGACCTGACCAG	0.642																																						ENST00000368352.5																			3	Substitution - Missense(3)	p.R449I(1)|p.R390I(1)|p.R753I(1)	kidney(3)	breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2575-2577)aGa>aTa		RUN and SH3 domain containing 1							130.0	101.0	111.0					1																	155300229		2203	4300	6503	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155300229G>T	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.2576G>T	1.37:g.155300229G>T	ENSP00000357336:p.Arg859Ile					RUSC1_ENST00000368349.4_Missense_Mutation_p.R390I|RUSC1_ENST00000368347.4_Missense_Mutation_p.R449I|RUSC1_ENST00000368354.3_Missense_Mutation_p.R753I|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.R390I	p.R859I	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)		10	2727	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		859			SH3.		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2576G>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370665	0.24771	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.4	2.32	0.28847	Src homology-3 domain (4);	1.121510	0.07075	N	0.836042	T	0.26738	0.0654	L	0.33293	1	0.18873	N	0.999988	B;B;B;B;B;P;B	0.42203	0.03;0.024;0.03;0.202;0.232;0.773;0.137	B;B;B;B;B;P;B	0.46885	0.053;0.031;0.053;0.097;0.124;0.53;0.053	T	0.23868	-1.0176	10	0.52906	T	0.07	0.0639	7.14	0.25550	0.0986:0.4411:0.4603:0.0	.	357;390;390;284;449;358;859	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	I	753;859;449;390;390	ENSP00000357338:R753I;ENSP00000357336:R859I;ENSP00000357331:R449I;ENSP00000357333:R390I;ENSP00000292254:R390I	ENSP00000292254:R390I	R	+	2	0	RUSC1	153566853	0.110000	0.22057	0.936000	0.37596	0.408000	0.30992	0.562000	0.23531	1.172000	0.42781	0.467000	0.42956	AGA		0.642	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			34	514	1	0	3.09479e-21	1	3.57091e-21	34	514				
GFOD2	81577	broad.mit.edu	37	16	67709603	67709603	+	Missense_Mutation	SNP	C	C	T	rs147012796		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:67709603C>T	ENST00000268797.7	-	3	958	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	205					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)	p.V205M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TTCTGCCTCACGAATGTCTTG	0.612																																						ENST00000268797.7																			1	Substitution - Missense(1)	p.V205M(1)	breast(1)	breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(613-615)Gtg>Atg		glucose-fructose oxidoreductase domain containing 2		C	MET/VAL	0,4396		0,0,2198	72.0	65.0	68.0		613	5.3	1.0	16	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	GFOD2	NM_030819.3	21	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	205/386	67709603	1,12995	2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709603C>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.613G>A	16.37:g.67709603C>T	ENSP00000268797:p.Val205Met					GFOD2_ENST00000602377.1_5'UTR	p.V205M	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	958	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	205					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.613G>A	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397480	0.83120	0.0	1.16E-4	ENSG00000141098	ENST00000268797	T	0.48201	0.82	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.76002	2.32	0.80722	D	1	D	0.65815	0.995	P	0.61592	0.891	T	0.70945	-0.4734	10	0.66056	D	0.02	-30.7634	18.8749	0.92331	0.0:1.0:0.0:0.0	.	205	Q3B7J2	GFOD2_HUMAN	M	205	ENSP00000268797:V205M	ENSP00000268797:V205M	V	-	1	0	GFOD2	66267104	1.000000	0.71417	0.991000	0.47740	0.832000	0.47134	7.792000	0.85828	2.625000	0.88918	0.557000	0.71058	GTG		0.612	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		5	78	0	0	0	1	0	5	78				
NLRP4	147945	broad.mit.edu	37	19	56369428	56369428	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:56369428G>A	ENST00000301295.6	+	3	1091	c.669G>A	c.(667-669)ccG>ccA	p.P223P	NLRP4_ENST00000587891.1_Silent_p.P148P|NLRP4_ENST00000346986.5_Silent_p.P223P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	223	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTCTCAACCGGAGAGACTCT	0.557																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(667-669)ccG>ccA		NLR family, pyrin domain containing 4							81.0	80.0	80.0					19																	56369428		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369428G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.669G>A	19.37:g.56369428G>A						NLRP4_ENST00000346986.5_Silent_p.P223P|NLRP4_ENST00000587891.1_Silent_p.P148P	p.P223P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1091	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	223			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.669G>A	CCDS12936.1																																																																																				0.557	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		22	76	0	0	0	1	0	22	76				
CHRNE	1145	broad.mit.edu	37	17	4804298	4804298	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:4804298G>A	ENST00000293780.4	-	7	799	c.789C>T	c.(787-789)ttC>ttT	p.F263F	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'Flank	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	263					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)	p.F263F(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GCGCCGGCAGGAAGTAGGCGA	0.657																																						ENST00000293780.4																			1	Substitution - coding silent(1)	p.F263F(1)	kidney(1)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						c.(787-789)ttC>ttT		cholinergic receptor, nicotinic, epsilon (muscle)							88.0	93.0	91.0					17																	4804298		2203	4300	6503	SO:0001819	synonymous_variant	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4804298G>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.789C>T	17.37:g.4804298G>A						C17orf107_ENST00000381365.3_3'UTR	p.F263F	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN			7	799	-			263					D3DTK6	Silent	SNP	ENST00000293780.4	37	c.789C>T	CCDS11058.1																																																																																				0.657	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			9	39	0	0	0	1	0	9	39				
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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_ENST00000402681.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000328916.3_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	8	107	0	0	0	1	0	8	107				
NLRP7	199713	broad.mit.edu	37	19	55450450	55450450	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:55450450C>A	ENST00000590030.1	-	3	1777	c.1737G>T	c.(1735-1737)caG>caT	p.Q579H	NLRP7_ENST00000340844.2_Missense_Mutation_p.Q579H|NLRP7_ENST00000446217.1_Missense_Mutation_p.Q607H|NLRP7_ENST00000448121.2_Missense_Mutation_p.Q579H|NLRP7_ENST00000592784.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000588756.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000328092.5_Missense_Mutation_p.Q579H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	579							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCTCCTCCTCCTGAGACTCAT	0.493																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1819-1821)caG>caT		NLR family, pyrin domain containing 7							79.0	76.0	77.0					19																	55450450		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55450450C>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1737G>T	19.37:g.55450450C>A	ENSP00000465520:p.Gln579His					NLRP7_ENST00000448121.2_Missense_Mutation_p.Q579H|NLRP7_ENST00000592784.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000590030.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000588756.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000340844.2_Missense_Mutation_p.Q579H|NLRP7_ENST00000328092.5_Missense_Mutation_p.Q579H	p.Q607H			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	2223	-			579					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1821G>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215437	0.39102	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	1.92	1.92	0.25849	.	0.000000	0.31673	N	0.007241	T	0.62865	0.2463	L	0.58101	1.795	0.21579	N	0.999634	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.48139	-0.9061	10	0.87932	D	0	.	7.3493	0.26680	0.0:1.0:0.0:0.0	.	607;579;579;579	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	H	579;579;579;607;346	ENSP00000329568:Q579H;ENSP00000409137:Q579H;ENSP00000339491:Q579H;ENSP00000414273:Q607H	ENSP00000329568:Q579H	Q	-	3	2	NLRP7	60142262	0.135000	0.22499	0.479000	0.27329	0.067000	0.16453	-1.244000	0.02902	1.384000	0.46424	0.462000	0.41574	CAG		0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		75	503	1	0	2.35497e-27	1	2.75256e-27	75	503				
ATG2B	55102	broad.mit.edu	37	14	96756058	96756058	+	Missense_Mutation	SNP	G	G	C	rs144991946	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:96756058G>C	ENST00000359933.4	-	41	6834	c.5941C>G	c.(5941-5943)Cgg>Ggg	p.R1981G	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1981					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGGGCTAACCGGTGATGAGGA	0.502													G|||	6	0.00119808	0.0	0.0	5008	,	,		17502	0.0		0.003	False		,,,				2504	0.0031					ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(5941-5943)Cgg>Ggg		autophagy related 2B		G	GLY/ARG	2,4404	4.2+/-10.8	0,2,2201	159.0	147.0	151.0		5941	5.4	1.0	14	dbSNP_134	151	13,8587	9.8+/-36.6	0,13,4287	yes	missense	ATG2B	NM_018036.5	125	0,15,6488	CC,CG,GG		0.1512,0.0454,0.1153	benign	1981/2079	96756058	15,12991	2203	4300	6503	SO:0001583	missense	55102							g.chr14:96756058G>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5941C>G	14.37:g.96756058G>C	ENSP00000353010:p.Arg1981Gly						p.R1981G	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	41	6834	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1981					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.5941C>G	CCDS9944.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.00	2.998025	0.54147	4.54E-4	0.001512	ENSG00000066739	ENST00000359933	T	0.11712	2.75	5.4	5.4	0.78164	Autophagy-related, C-terminal (1);	0.058207	0.64402	D	0.000001	T	0.16514	0.0397	L	0.61036	1.89	0.51482	D	0.999921	B	0.02656	0.0	B	0.10450	0.005	T	0.02743	-1.1116	10	0.35671	T	0.21	.	19.5457	0.95295	0.0:0.0:1.0:0.0	.	1981	Q96BY7	ATG2B_HUMAN	G	1981	ENSP00000353010:R1981G	ENSP00000353010:R1981G	R	-	1	2	ATG2B	95825811	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	5.380000	0.66202	2.673000	0.90976	0.655000	0.94253	CGG		0.502	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		29	346	0	0	0	1	0	29	346				
ESPNP	284729	broad.mit.edu	37	1	17029462	17029462	+	RNA	SNP	A	A	G	rs11260891	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:17029462A>G	ENST00000492551.1	-	0	903					NR_026567.1				espin pseudogene																		CTAGTGCTGGAAAGCCCTGGG	0.577																																						ENST00000492551.1																			0																																																			284729							g.chr1:17029462A>G	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17029462A>G								NR_026567.1						0	903	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.577	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			7	19	0	0	0	1	0	7	19				
PEX7	5191	broad.mit.edu	37	6	137167252	137167252	+	Silent	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:137167252C>A	ENST00000318471.4	+	5	540	c.459C>A	c.(457-459)ggC>ggA	p.G153G	PEX7_ENST00000541292.1_Silent_p.G153G	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	153					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		CCTTTAGAGGCCATGAAAGTA	0.363																																						ENST00000541292.1																			0				lung(7)|prostate(1)	8						c.(457-459)ggC>ggA		peroxisomal biogenesis factor 7							122.0	111.0	115.0					6																	137167252		2203	4300	6503	SO:0001819	synonymous_variant	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137167252C>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.459C>A	6.37:g.137167252C>A						PEX7_ENST00000318471.4_Silent_p.G153G	p.G153G			O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	5	545	+	Colorectal(23;0.24)		153					C0H5X6	Silent	SNP	ENST00000318471.4	37	c.459C>A	CCDS5180.1																																																																																				0.363	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		5	97	1	0	0.00307968	1	0.00316767	5	97				
SMC3	9126	broad.mit.edu	37	10	112356197	112356197	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:112356197T>G	ENST00000361804.4	+	19	2131	c.2005T>G	c.(2005-2007)Tat>Gat	p.Y669D		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	669					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.Y669D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGGGGGTTATTATGACACAAG	0.383																																						ENST00000361804.4																			1	Substitution - Missense(1)	p.Y669D(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2005-2007)Tat>Gat		structural maintenance of chromosomes 3							116.0	116.0	116.0					10																	112356197		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112356197T>G	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2005T>G	10.37:g.112356197T>G	ENSP00000354720:p.Tyr669Asp						p.Y669D	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	19	2131	+		Breast(234;0.0848)|Lung NSC(174;0.238)	669					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.2005T>G	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600169	0.66332	.	.	ENSG00000108055	ENST00000361804	D	0.85629	-2.01	5.33	5.33	0.75918	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	L	0.34521	1.04	0.80722	D	1	P	0.49307	0.922	B	0.41412	0.356	T	0.79933	-0.1594	10	0.38643	T	0.18	.	15.3105	0.74028	0.0:0.0:0.0:1.0	.	669	Q9UQE7	SMC3_HUMAN	D	669	ENSP00000354720:Y669D	ENSP00000354720:Y669D	Y	+	1	0	SMC3	112346187	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	7.698000	0.84413	2.014000	0.59158	0.260000	0.18958	TAT		0.383	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		69	123	0	0	0	1	0	69	123				
CDK5RAP1	51654	broad.mit.edu	37	20	31967381	31967381	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:31967381A>T	ENST00000357886.4	-	9	1188	c.1035T>A	c.(1033-1035)taT>taA	p.Y345*	CDK5RAP1_ENST00000473997.1_Nonsense_Mutation_p.Y241*|CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.Y331*			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	345					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GCTTGGTTTTATAGTTGGTGG	0.473																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(1033-1035)taT>taA		CDK5 regulatory subunit associated protein 1							115.0	118.0	117.0					20																	31967381		2203	4300	6503	SO:0001587	stop_gained	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31967381A>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1035T>A	20.37:g.31967381A>T	ENSP00000350558:p.Tyr345*					CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000452723.3_Nonsense_Mutation_p.Y241*|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.Y331*	p.Y345*			Q96SZ6	CK5P1_HUMAN			9	1188	-			345					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Nonsense_Mutation	SNP	ENST00000357886.4	37	c.1035T>A		.	.	.	.	.	.	.	.	.	.	A	37	6.482042	0.97603	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000452723;ENST00000544843	.	.	.	5.16	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0353	5.063	0.14566	0.8052:0.0:0.1948:0.0	.	.	.	.	X	331;345;241;331	.	ENSP00000217372:Y331X	Y	-	3	2	CDK5RAP1	31431042	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.225000	0.58600	2.162000	0.67917	0.459000	0.35465	TAT		0.473	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		7	145	0	0	0	1	0	7	145				
CDHR3	222256	broad.mit.edu	37	7	105635195	105635195	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:105635195A>T	ENST00000317716.9	+	5	593		c.e5-1		CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000542731.1_Splice_Site|CDHR3_ENST00000343407.5_Splice_Site|CDHR3_ENST00000478080.1_Splice_Site|CDHR3_ENST00000470188.1_Intron	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTTGTTTTTTAGTATTTCCTG	0.438																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.e5-1		cadherin-related family member 3							94.0	83.0	87.0					7																	105635195		1846	4090	5936	SO:0001630	splice_region_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105635195A>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.514-1A>T	7.37:g.105635195A>T						CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000317716.9_Splice_Site|CDHR3_ENST00000343407.5_Splice_Site|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000478080.1_Splice_Site				Q6ZTQ4	CDHR3_HUMAN			5	621	+								Q8TCI7	Splice_Site	SNP	ENST00000317716.9	37		CCDS47684.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453643	0.63290	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8947	0.58093	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDHR3	105422431	0.996000	0.38824	0.922000	0.36590	0.795000	0.44927	4.588000	0.60999	2.156000	0.67533	0.533000	0.62120	.		0.438	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750	Intron	3	16	0	0	0	1	0	3	16				
RGPD3	653489	broad.mit.edu	37	2	107042546	107042546	+	Splice_Site	SNP	T	T	A	rs199698831		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:107042546T>A	ENST00000409886.3	-	19	2693		c.e19-2		RGPD3_ENST00000304514.7_Splice_Site	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3						protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TAGTTGCAACTAAAAAAAAAA	0.338																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.e19-2		RANBP2-like and GRIP domain containing 3							58.0	47.0	50.0					2																	107042546		692	1588	2280	SO:0001630	splice_region_variant	653489				intracellular transport		binding	g.chr2:107042546T>A		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2606-2A>T	2.37:g.107042546T>A						RGPD3_ENST00000304514.7_Splice_Site		NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			19	2693	-								B8ZZM4	Splice_Site	SNP	ENST00000409886.3	37		CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	12.20	1.866780	0.32977	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	.	.	.	2.5	2.5	0.30297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.522	0.33282	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RGPD3	106408978	1.000000	0.71417	0.993000	0.49108	0.721000	0.41392	5.553000	0.67287	1.142000	0.42291	0.156000	0.16432	.		0.338	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931	Intron	5	40	0	0	0	1	0	5	40				
UGT1A10	54575	broad.mit.edu	37	2	234545342	234545342	+	Silent	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:234545342C>T	ENST00000344644.5	+	1	243	c.174C>T	c.(172-174)gtC>gtT	p.V58V	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.V58V	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	58					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.V58V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TGGTTGTAGTCATGCCAGAGG	0.517																																						ENST00000344644.5																			1	Substitution - coding silent(1)	p.V58V(1)	kidney(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(172-174)gtC>gtT									106.0	89.0	94.0					2																	234545342		2203	4300	6503	SO:0001819	synonymous_variant	54575							g.chr2:234545342C>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.174C>T	2.37:g.234545342C>T						UGT1A10_ENST00000373445.1_Silent_p.V58V|UGT1A8_ENST00000373450.4_Intron	p.V58V	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	243	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Silent	SNP	ENST00000344644.5	37	c.174C>T	CCDS33403.1																																																																																				0.517	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		13	256	0	0	0	1	0	13	256				
SPATA2	9825	broad.mit.edu	37	20	48523269	48523269	+	Silent	SNP	G	G	A	rs148068614	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:48523269G>A	ENST00000422556.1	-	3	799	c.450C>T	c.(448-450)ctC>ctT	p.L150L	SPATA2_ENST00000543716.1_Silent_p.L13L|SPATA2_ENST00000289431.5_Silent_p.L150L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	150					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGAGCTCTCTGAGCTTGTATG	0.502													G|||	15	0.00299521	0.0	0.0	5008	,	,		17145	0.0		0.002	False		,,,				2504	0.0133					ENST00000422556.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(448-450)ctC>ctT		spermatogenesis associated 2		G	,	3,4403	6.2+/-15.9	0,3,2200	50.0	50.0	50.0		450,450	4.7	0.9	20	dbSNP_134	50	20,8580	14.6+/-50.1	0,20,4280	no	coding-synonymous,coding-synonymous	SPATA2	NM_001135773.1,NM_006038.3	,	0,23,6480	AA,AG,GG		0.2326,0.0681,0.1768	,	150/521,150/521	48523269	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48523269G>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.450C>T	20.37:g.48523269G>A						SPATA2_ENST00000543716.1_Silent_p.L13L|SPATA2_ENST00000289431.5_Silent_p.L150L	p.L150L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	799	-	Hepatocellular(150;0.133)		150					E1P626|O94857	Silent	SNP	ENST00000422556.1	37	c.450C>T	CCDS13422.1																																																																																				0.502	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		7	165	0	0	0	1	0	7	165				
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:42022431A>T	ENST00000264451.7	+	4	514		c.e4-1			NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTTGTTTAGTTAAAGCAG	0.348																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e4-1		solute carrier family 30 (zinc transporter), member 9							126.0	115.0	119.0					4																	42022431		2203	4299	6502	SO:0001630	splice_region_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42022431A>T	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.335-1A>T	4.37:g.42022431A>T								NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			4	514	+								Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Splice_Site	SNP	ENST00000264451.7	37		CCDS3465.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592832	0.86953	.	.	ENSG00000014824	ENST00000264451	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4116	0.83717	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC30A9	41717188	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.788000	0.91834	2.276000	0.75962	0.528000	0.53228	.		0.348	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		Intron	5	56	0	0	0	1	0	5	56				
CTR9	9646	broad.mit.edu	37	11	10795708	10795708	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:10795708G>A	ENST00000361367.2	+	22	3303	c.2877G>A	c.(2875-2877)aaG>aaA	p.K959K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	959	Lys-rich.|Poly-Lys.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		agaagaaaaagaggagaagGT	0.368																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(2875-2877)aaG>aaA		CTR9, Paf1/RNA polymerase II complex component							127.0	106.0	113.0					11																	10795708		2201	4294	6495	SO:0001819	synonymous_variant	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10795708G>A	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2877G>A	11.37:g.10795708G>A							p.K959K	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	22	3303	+			959			Lys-rich.|Poly-Lys.		D3DQV8|Q15015	Silent	SNP	ENST00000361367.2	37	c.2877G>A	CCDS7805.1																																																																																				0.368	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		24	73	0	0	0	1	0	24	73				
CTNNA2	1496	broad.mit.edu	37	2	80136837	80136837	+	Silent	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:80136837C>A	ENST00000402739.4	+	6	975	c.970C>A	c.(970-972)Cga>Aga	p.R324R	CTNNA2_ENST00000496558.1_Silent_p.R324R|CTNNA2_ENST00000466387.1_Silent_p.R324R|CTNNA2_ENST00000541047.1_Silent_p.R324R|CTNNA2_ENST00000540488.1_Silent_p.R324R|CTNNA2_ENST00000361291.4_Silent_p.R358R	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	324					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R324R(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCCTGCACGCGAGACGACCG	0.647																																						ENST00000466387.1																			2	Substitution - coding silent(2)	p.R324R(2)	kidney(2)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(970-972)Cga>Aga		catenin (cadherin-associated protein), alpha 2							53.0	59.0	57.0					2																	80136837		2061	4208	6269	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136837C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.970C>A	2.37:g.80136837C>A						CTNNA2_ENST00000496558.1_Silent_p.R324R|CTNNA2_ENST00000541047.1_Silent_p.R324R|CTNNA2_ENST00000540488.1_Silent_p.R324R|CTNNA2_ENST00000402739.4_Silent_p.R324R|CTNNA2_ENST00000361291.4_Silent_p.R358R	p.R324R			P26232	CTNA2_HUMAN			11	1694	+			324					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.970C>A																																																																																					0.647	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		31	96	1	0	3.88204e-17	1	4.42257e-17	31	96				
SLC7A10	56301	broad.mit.edu	37	19	33702235	33702235	+	Splice_Site	SNP	C	C	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:33702235C>G	ENST00000253188.4	-	7	1059		c.e7-1			NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.?(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CCCCGAAGGTCTGGGTGGGCA	0.617																																						ENST00000253188.3																			1	Unknown(1)	p.?(1)	kidney(1)	central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.e7-1		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							58.0	55.0	56.0					19																	33702235		2203	4300	6503	SO:0001630	splice_region_variant	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33702235C>G	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.913-1G>C	19.37:g.33702235C>G								NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			7	1059	-	Esophageal squamous(110;0.137)							B2RE84	Splice_Site	SNP	ENST00000253188.4	37		CCDS12431.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.997027	0.74818	.	.	ENSG00000130876	ENST00000253188	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.42127	D	0.991458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5701	0.87933	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC7A10	38394075	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	7.783000	0.85696	2.408000	0.81797	0.467000	0.42956	.		0.617	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849	Intron	7	24	0	0	0	1	0	7	24				
MANBA	4126	broad.mit.edu	37	4	103560981	103560981	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:103560981C>T	ENST00000226578.4	-	14	2002	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	MANBA_ENST00000505239.1_Missense_Mutation_p.E578K	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	635					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CGGTAGAATTCAGTTTCTGTT	0.468																																						ENST00000226578.4																			0				cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1903-1905)Gaa>Aaa		mannosidase, beta A, lysosomal							117.0	100.0	106.0					4																	103560981		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103560981C>T		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1903G>A	4.37:g.103560981C>T	ENSP00000226578:p.Glu635Lys					MANBA_ENST00000505239.1_Missense_Mutation_p.E578K	p.E635K	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	14	2002	-		Hepatocellular(203;0.217)	635					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.1903G>A	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579373	0.96565	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	D;D	0.86694	-2.16;-2.16	5.7	5.7	0.88788	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95695	0.8600	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.989;0.994	D	0.96247	0.9180	10	0.72032	D	0.01	-14.0955	19.895	0.96954	0.0:1.0:0.0:0.0	.	578;635	E9PFW2;O00462	.;MANBA_HUMAN	K	635;578	ENSP00000226578:E635K;ENSP00000427322:E578K	ENSP00000226578:E635K	E	-	1	0	MANBA	103780029	1.000000	0.71417	0.891000	0.34965	0.874000	0.50279	7.414000	0.80117	2.705000	0.92388	0.650000	0.86243	GAA		0.468	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			5	63	0	0	0	1	0	5	63				
RPUSD2	27079	broad.mit.edu	37	15	40866017	40866017	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:40866017G>C	ENST00000315616.7	+	3	1233	c.1195G>C	c.(1195-1197)Ggc>Cgc	p.G399R	RPUSD2_ENST00000559271.1_Missense_Mutation_p.G338R	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	399					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.G399R(1)		kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TCCTTCTCGAGGCCGGGGCGG	0.572																																						ENST00000315616.7																			1	Substitution - Missense(1)	p.G399R(1)	kidney(1)	kidney(4)|lung(4)|skin(3)	11						c.(1195-1197)Ggc>Cgc		RNA pseudouridylate synthase domain containing 2							60.0	57.0	58.0					15																	40866017		2203	4300	6503	SO:0001583	missense	27079				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr15:40866017G>C	AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.1195G>C	15.37:g.40866017G>C	ENSP00000323288:p.Gly399Arg					RPUSD2_ENST00000559271.1_Missense_Mutation_p.G338R	p.G399R	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)	3	1233	+		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	399					B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	c.1195G>C	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027480	0.75390	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.37235	1.21	5.36	5.36	0.76844	Pseudouridine synthase, catalytic domain (1);	0.047687	0.85682	D	0.000000	T	0.69700	0.3140	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76482	-0.2943	10	0.87932	D	0	-22.4607	18.8836	0.92367	0.0:0.0:1.0:0.0	.	399	Q8IZ73	RUSD2_HUMAN	R	399;378	ENSP00000323288:G399R	ENSP00000323288:G399R	G	+	1	0	RPUSD2	38653309	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	9.445000	0.97587	2.797000	0.96272	0.563000	0.77884	GGC		0.572	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260		71	202	0	0	0	1	0	71	202				
MRRF	92399	broad.mit.edu	37	9	125033141	125033141	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:125033141A>T	ENST00000344641.3	+	2	283		c.e2-1		MRRF_ENST00000546115.1_Splice_Site|MRRF_ENST00000373730.3_Splice_Site|MRRF_ENST00000297908.3_Splice_Site|MRRF_ENST00000373723.5_Splice_Site|MRRF_ENST00000373729.1_Intron|MRRF_ENST00000394315.3_5'Flank|MRRF_ENST00000373724.1_Intron	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor						ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						TATTCTTTTTAGTGGATGTTT	0.393																																						ENST00000344641.3																			0				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						c.e2-1		mitochondrial ribosome recycling factor							87.0	94.0	92.0					9																	125033141		2203	4300	6503	SO:0001630	splice_region_variant	92399				ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity	g.chr9:125033141A>T	AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.-28-1A>T	9.37:g.125033141A>T						MRRF_ENST00000297908.3_Splice_Site|MRRF_ENST00000373723.4_Splice_Site|MRRF_ENST00000546115.1_Splice_Site|MRRF_ENST00000373727.1_Splice_Site|MRRF_ENST00000373729.1_Intron|MRRF_ENST00000373728.1_Splice_Site|MRRF_ENST00000373730.3_Splice_Site		NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN			2	283	+								A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Splice_Site	SNP	ENST00000344641.3	37		CCDS6840.1																																																																																				0.393	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777	Intron	7	154	0	0	0	1	0	7	154				
CAPN2	824	broad.mit.edu	37	1	223940635	223940635	+	Missense_Mutation	SNP	C	C	T	rs145466296	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:223940635C>T	ENST00000295006.5	+	9	1421	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V	CAPN2_ENST00000433674.2_Missense_Mutation_p.A293V	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	371	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GGCTCCACCGCGGGAGGTTGC	0.567													C|||	4	0.000798722	0.0	0.0014	5008	,	,		16640	0.0		0.003	False		,,,				2504	0.0					ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(1111-1113)gCg>gTg		calpain 2, (m/II) large subunit		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	80.0	90.0	86.0		878,1112	5.3	0.9	1	dbSNP_134	86	14,8586	9.8+/-36.6	0,14,4286	yes	missense,missense	CAPN2	NM_001146068.1,NM_001748.4	64,64	0,14,6489	TT,TC,CC		0.1628,0.0,0.1076	probably-damaging,probably-damaging	293/623,371/701	223940635	14,12992	2203	4300	6503	SO:0001583	missense	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223940635C>T	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1112C>T	1.37:g.223940635C>T	ENSP00000295006:p.Ala371Val					CAPN2_ENST00000433674.2_Missense_Mutation_p.A293V	p.A371V	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	9	1421	+			371			Domain III.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	c.1112C>T	CCDS31035.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	32	5.156569	0.94686	0.0	0.001628	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.95554	-3.74;-3.74	5.3	5.3	0.74995	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99513	1.0956	10	0.87932	D	0	.	19.3177	0.94223	0.0:1.0:0.0:0.0	.	293;371	B7ZA96;P17655	.;CAN2_HUMAN	V	293;371;400	ENSP00000413158:A293V;ENSP00000295006:A371V	ENSP00000295006:A371V	A	+	2	0	CAPN2	222007258	1.000000	0.71417	0.861000	0.33841	0.582000	0.36321	7.742000	0.85008	2.640000	0.89533	0.561000	0.74099	GCG		0.567	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		9	163	0	0	0	1	0	9	163				
RYR1	6261	broad.mit.edu	37	19	39051932	39051932	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:39051932G>A	ENST00000359596.3	+	90	12462	c.12462G>A	c.(12460-12462)ccG>ccA	p.P4154P	RYR1_ENST00000355481.4_Silent_p.P4149P|RYR1_ENST00000360985.3_Silent_p.P4149P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4154					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.P4154P(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGCATGTGCCGCATGACCCTC	0.627																																						ENST00000355481.4																			1	Substitution - coding silent(1)	p.P4154P(1)	kidney(1)	NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(12445-12447)ccG>ccA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						112.0	85.0	94.0					19																	39051932		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39051932G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12462G>A	19.37:g.39051932G>A						RYR1_ENST00000359596.3_Silent_p.P4154P|RYR1_ENST00000360985.3_Silent_p.P4149P	p.P4149P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		89	12578	+	all_cancers(60;7.91e-06)		4154					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.12447G>A	CCDS33011.1																																																																																				0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			202	455	0	0	0	1	0	202	455				
MIOS	54468	broad.mit.edu	37	7	7636022	7636022	+	Silent	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:7636022C>T	ENST00000340080.4	+	11	2752	c.2331C>T	c.(2329-2331)ggC>ggT	p.G777G	MIOS_ENST00000405785.1_Silent_p.G777G	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	777						lysosomal membrane (GO:0005765)		p.G777G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTGTCCTGGCTGTCGAAAAC	0.433																																						ENST00000340080.4																			1	Substitution - coding silent(1)	p.G777G(1)	kidney(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2329-2331)ggC>ggT		missing oocyte, meiosis regulator, homolog (Drosophila)							188.0	181.0	183.0					7																	7636022		1979	4152	6131	SO:0001819	synonymous_variant	54468							g.chr7:7636022C>T		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2331C>T	7.37:g.7636022C>T						MIOS_ENST00000405785.1_Silent_p.G777G	p.G777G	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			11	2752	+			777					B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.2331C>T	CCDS43554.1																																																																																				0.433	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		57	172	0	0	0	1	0	57	172				
PRR23A	729627	broad.mit.edu	37	3	138724757	138724757	+	Silent	SNP	C	C	G	rs11924188	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:138724757C>G	ENST00000383163.2	-	1	353	c.354G>C	c.(352-354)tcG>tcC	p.S118S	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	118										endometrium(3)|kidney(1)|lung(7)	11						GCCCAGCAGACGAGTCGTCCT	0.617													C|||	3066	0.61222	0.4349	0.6066	5008	,	,		16100	0.6141		0.7594	False		,,,				2504	0.7025					ENST00000383163.2																			0				endometrium(3)|kidney(1)|lung(7)	11						c.(352-354)tcG>tcC		proline rich 23A		C		701,683		183,335,174	36.0	35.0	35.0		354	-2.9	0.0	3	dbSNP_120	35	2443,739		942,559,90	no	coding-synonymous	PRR23A	NM_001134659.1		1125,894,264	GG,GC,CC		23.2244,49.3497,31.1432		118/267	138724757	3144,1422	692	1591	2283	SO:0001819	synonymous_variant	729627							g.chr3:138724757C>G		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.354G>C	3.37:g.138724757C>G						MRPS22_ENST00000495075.1_5'UTR	p.S118S	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN			1	353	-			118						Silent	SNP	ENST00000383163.2	37	c.354G>C	CCDS46923.1																																																																																				0.617	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		14	90	0	0	0	1	0	14	90				
SRCIN1	80725	broad.mit.edu	37	17	36708271	36708271	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:36708271A>C	ENST00000264659.7	-	14	2802	c.2578T>G	c.(2578-2580)Ttc>Gtc	p.F860V	SRCIN1_ENST00000578925.1_Missense_Mutation_p.F894V|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	732	Pro-rich.				exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.F860V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGCATTTCGAAGTCCACGCTC	0.617																																						ENST00000264659.7																			1	Substitution - Missense(1)	p.F860V(1)	kidney(1)	endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(2578-2580)Ttc>Gtc		SRC kinase signaling inhibitor 1							39.0	46.0	44.0					17																	36708271		1976	4130	6106	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36708271A>C		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2578T>G	17.37:g.36708271A>C	ENSP00000264659:p.Phe860Val					SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.F894V	p.F860V	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			14	2802	-			732			Pro-rich.		Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.2578T>G	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429381	0.43122	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.52526	0.66	4.69	3.61	0.41365	.	0.051181	0.85682	D	0.000000	T	0.33556	0.0867	L	0.40543	1.245	0.47245	D	0.999366	P;B;P;P	0.40230	0.708;0.4;0.655;0.655	B;B;B;B	0.40702	0.338;0.173;0.269;0.269	T	0.23762	-1.0179	10	0.02654	T	1	-12.0781	9.3762	0.38283	0.9132:0.0:0.0868:0.0	.	166;732;732;860	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	V	860;641;714	ENSP00000264659:F860V	ENSP00000264659:F860V	F	-	1	0	SRCIN1	33961797	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	2.446000	0.44908	0.942000	0.37525	0.459000	0.35465	TTC		0.617	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		23	35	0	0	0	1	0	23	35				
SAG	6295	broad.mit.edu	37	2	234255451	234255451	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:234255451A>T	ENST00000409110.1	+	16	1342		c.e16-1			NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)						cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GTTTTATTTTAGTTATCAGGA	0.388																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.e16-1		S-antigen; retina and pineal gland (arrestin)							83.0	78.0	80.0					2																	234255451		1869	4109	5978	SO:0001630	splice_region_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234255451A>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.1113-1A>T	2.37:g.234255451A>T								NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	16	1342	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)						A0FDN6|Q53SV3|Q99858	Splice_Site	SNP	ENST00000409110.1	37		CCDS46545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.01|19.01	3.743073|3.743073	0.69418|0.69418	.|.	.|.	ENSG00000130561|ENSG00000130561	ENST00000409110|ENST00000252857	.|.	.|.	.|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|73.258800	.|0.01383	.|U	.|0.012996	.|T	.|0.74015	.|0.3661	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56141	.|-0.8028	.|6	.|0.62326	.|D	.|0.03	.|.	13.0395|13.0395	0.58891|0.58891	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|C	-1|371	.|.	.|ENSP00000252857:S371C	.|S	+|+	.|1	.|0	SAG|SAG	233920190|233920190	1.000000|1.000000	0.71417|0.71417	0.596000|0.596000	0.28811|0.28811	0.591000|0.591000	0.36615|0.36615	5.283000|5.283000	0.65621|0.65621	1.971000|1.971000	0.57363|0.57363	0.533000|0.533000	0.62120|0.62120	.|AGT		0.388	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541	Intron	7	44	0	0	0	1	0	7	44				
RELN	5649	broad.mit.edu	37	7	103132475	103132475	+	Splice_Site	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:103132475T>A	ENST00000428762.1	-	58	9529		c.e58-2		CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Splice_Site|RELN_ENST00000343529.5_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACCACAATCTAAAACAAACA	0.333																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.e58-2		reelin							86.0	77.0	80.0					7																	103132475		2203	4300	6503	SO:0001630	splice_region_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103132475T>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9370-2A>T	7.37:g.103132475T>A						CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site		NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	58	9529	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	37		CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684761	0.88639	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3829	0.83481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	102919711	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.359000	0.79477	2.271000	0.75665	0.459000	0.35465	.		0.333	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Intron	4	30	0	0	0	1	0	4	30				
KRT31	3881	broad.mit.edu	37	17	39553696	39553696	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:39553696G>A	ENST00000251645.2	-	1	148	c.96C>T	c.(94-96)ccC>ccT	p.P32P		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	32	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGCAGGCCCCGGGCAGGGTGC	0.637																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(94-96)ccC>ccT		keratin 31							40.0	44.0	42.0					17																	39553696		2203	4300	6503	SO:0001819	synonymous_variant	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39553696G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.96C>T	17.37:g.39553696G>A							p.P32P	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			1	148	-		Breast(137;0.000496)	32			Head.		Q9UE12	Silent	SNP	ENST00000251645.2	37	c.96C>T	CCDS11391.1																																																																																				0.637	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		11	267	0	0	0	1	0	11	267				
CDC42BPB	9578	broad.mit.edu	37	14	103452870	103452870	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:103452870C>A	ENST00000361246.2	-	6	932	c.644G>T	c.(643-645)cGc>cTc	p.R215L		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GTCAGCCAGGCGGATATGACC	0.378																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(643-645)cGc>cTc		CDC42 binding protein kinase beta (DMPK-like)							216.0	183.0	194.0					14																	103452870		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103452870C>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.644G>T	14.37:g.103452870C>A	ENSP00000355237:p.Arg215Leu						p.R215L	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	6	932	-		Melanoma(154;0.155)	215			Protein kinase.			Missense_Mutation	SNP	ENST00000361246.2	37	c.644G>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200754	0.94997	.	.	ENSG00000198752	ENST00000361246	T	0.39056	1.1	5.41	4.51	0.55191	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	L	0.28054	0.825	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59461	-0.7450	10	0.87932	D	0	.	16.5028	0.84262	0.0:0.8688:0.1312:0.0	.	215	Q9Y5S2	MRCKB_HUMAN	L	215	ENSP00000355237:R215L	ENSP00000355237:R215L	R	-	2	0	CDC42BPB	102522623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.750000	0.85110	1.400000	0.46741	0.650000	0.86243	CGC		0.378	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		19	288	1	0	0.667858	1	0.667858	19	288				
EPB41L5	57669	broad.mit.edu	37	2	120900686	120900686	+	Silent	SNP	T	T	C	rs61730480	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:120900686T>C	ENST00000263713.5	+	19	1921	c.1707T>C	c.(1705-1707)gcT>gcC	p.A569A	EPB41L5_ENST00000452780.1_Silent_p.A569A|EPB41L5_ENST00000443902.2_Silent_p.A569A	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	569					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TTTTGAAGGCTCAAGTAGAAG	0.428													T|||	2	0.000399361	0.0	0.0029	5008	,	,		17527	0.0		0.0	False		,,,				2504	0.0					ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(1705-1707)gcT>gcC		erythrocyte membrane protein band 4.1 like 5		T	,	0,4406		0,0,2203	120.0	113.0	116.0		1707,1707	4.0	1.0	2	dbSNP_129	116	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous,coding-synonymous	EPB41L5	NM_001184937.1,NM_020909.3	,	0,9,6494	CC,CT,TT		0.1047,0.0,0.0692	,	569/688,569/734	120900686	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120900686T>C	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1707T>C	2.37:g.120900686T>C						EPB41L5_ENST00000452780.1_Silent_p.A569A|EPB41L5_ENST00000443902.2_Silent_p.A569A	p.A569A	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			19	1921	+			569					Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	ENST00000263713.5	37	c.1707T>C	CCDS2130.1																																																																																				0.428	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		15	442	0	0	0	1	0	15	442				
NOS1	4842	broad.mit.edu	37	12	117681127	117681127	+	Silent	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:117681127C>T	ENST00000338101.4	-	19	3043	c.3039G>A	c.(3037-3039)gtG>gtA	p.V1013V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.V979V			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.V979V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GAGCTTCGGCCACAAAGGTGA	0.517																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			1	Substitution - coding silent(1)	p.V979V(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2935-2937)gtG>gtA		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						220.0	211.0	214.0					12																	117681127		2021	4179	6200	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117681127C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3039G>A	12.37:g.117681127C>T						NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.V1013V	p.V979V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	19	3622	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		979						Silent	SNP	ENST00000338101.4	37	c.2937G>A	CCDS55890.1																																																																																				0.517	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			52	473	0	0	0	1	0	52	473				
CYTH2	9266	broad.mit.edu	37	19	48977501	48977501	+	Missense_Mutation	SNP	G	G	A	rs1804728		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:48977501G>A	ENST00000452733.2	+	7	1086	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	CYTH2_ENST00000427476.1_Missense_Mutation_p.V204I			Q99418	CYH2_HUMAN	cytohesin 2	204					actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)	p.V204I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CAATCCCAATGTCCGGGACAA	0.632																																						ENST00000427476.1																			1	Substitution - Missense(1)	p.V204I(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(610-612)Gtc>Atc		cytohesin 2							105.0	87.0	93.0					19																	48977501		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48977501G>A	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.610G>A	19.37:g.48977501G>A	ENSP00000408236:p.Val204Ile					CYTH2_ENST00000452733.2_Missense_Mutation_p.V204I	p.V204I	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN			7	910	+			204					A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.610G>A	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695349	0.68386	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.54675	0.56;0.56;0.56	4.16	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	L	0.46741	1.465	0.58432	D	0.999999	B	0.32543	0.375	B	0.43889	0.435	T	0.52313	-0.8592	10	0.45353	T	0.12	.	10.0301	0.42096	0.1:0.0:0.9:0.0	.	204	Q99418-2	.	I	204;204;226	ENSP00000408236:V204I;ENSP00000391648:V204I;ENSP00000314566:V226I	ENSP00000314566:V226I	V	+	1	0	CYTH2	53669313	1.000000	0.71417	0.974000	0.42286	0.642000	0.38348	9.621000	0.98376	1.117000	0.41842	0.561000	0.74099	GTC		0.632	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		57	139	0	0	0	1	0	57	139				
IGSF8	93185	broad.mit.edu	37	1	160062372	160062372	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:160062372C>A	ENST00000368086.1	-	5	1642	c.1426G>T	c.(1426-1428)Gcc>Tcc	p.A476S	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Missense_Mutation_p.A476S			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	476	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGCTGGCGGCCAGCCGCAGT	0.687																																						ENST00000368086.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(1426-1428)Gcc>Tcc		immunoglobulin superfamily, member 8							16.0	19.0	18.0					1																	160062372		2164	4240	6404	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160062372C>A	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1426G>T	1.37:g.160062372C>A	ENSP00000357065:p.Ala476Ser					IGSF8_ENST00000314485.7_Missense_Mutation_p.A476S	p.A476S			Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		5	1642	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		476			Ig-like C2-type 4.		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.1426G>T	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	7.877	0.729382	0.15507	.	.	ENSG00000162729	ENST00000314485;ENST00000368086	T;T	0.21031	2.03;2.03	2.98	2.98	0.34508	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.606258	0.14489	U	0.316455	T	0.03011	0.0089	N	0.14661	0.345	0.36525	D	0.870417	P	0.42456	0.78	B	0.35182	0.197	T	0.10683	-1.0619	10	0.02654	T	1	-2.0708	10.8685	0.46869	0.0:1.0:0.0:0.0	.	476	Q969P0	IGSF8_HUMAN	S	476	ENSP00000316664:A476S;ENSP00000357065:A476S	ENSP00000316664:A476S	A	-	1	0	IGSF8	158328996	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	5.546000	0.67243	1.475000	0.48197	0.462000	0.41574	GCC		0.687	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		5	75	1	0	0.014758	1	0.0150081	5	75				
UNC5C	8633	broad.mit.edu	37	4	96106258	96106258	+	Silent	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:96106258G>T	ENST00000453304.1	-	13	2574	c.2226C>A	c.(2224-2226)cgC>cgA	p.R742R		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	742					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)		GAATTGACAGGCGCAGGTTGT	0.458																																						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.(2224-2226)cgC>cgA		unc-5 homolog C (C. elegans)							119.0	119.0	119.0					4																	96106258		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96106258G>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.2226C>A	4.37:g.96106258G>T							p.R742R	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	13	2574	-		Hepatocellular(203;0.114)	742					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.2226C>A	CCDS3643.1																																																																																				0.458	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		36	180	1	0	1.43246e-33	1	1.70757e-33	36	180				
DPY19L1	23333	broad.mit.edu	37	7	34981390	34981390	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:34981390A>G	ENST00000310974.4	-	18	1601	c.1457T>C	c.(1456-1458)aTc>aCc	p.I486T	MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	486						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.I486T(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCTTGAGCAGATCAGTGATGC	0.343																																						ENST00000310974.4																			1	Substitution - Missense(1)	p.I486T(1)	kidney(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(1456-1458)aTc>aCc		dpy-19-like 1 (C. elegans)							74.0	69.0	71.0					7																	34981390		1824	4101	5925	SO:0001583	missense	23333					integral to membrane		g.chr7:34981390A>G	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1457T>C	7.37:g.34981390A>G	ENSP00000308695:p.Ile486Thr						p.I486T	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			18	1601	-			486					O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.1457T>C	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731486	0.69189	.	.	ENSG00000173852	ENST00000310974	T	0.58506	0.33	5.14	5.14	0.70334	.	0.349338	0.31909	N	0.006871	T	0.64103	0.2568	M	0.73598	2.24	0.42507	D	0.992958	B	0.25048	0.117	B	0.35655	0.207	T	0.67325	-0.5699	10	0.72032	D	0.01	-10.7255	14.4374	0.67290	1.0:0.0:0.0:0.0	.	486	Q2PZI1	D19L1_HUMAN	T	486	ENSP00000308695:I486T	ENSP00000308695:I486T	I	-	2	0	DPY19L1	34947915	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.301000	0.96167	2.072000	0.62099	0.472000	0.43445	ATC		0.343	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			13	42	0	0	0	1	0	13	42				
PCDHB7	56129	broad.mit.edu	37	5	140554161	140554161	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:140554161C>T	ENST00000231137.3	+	1	1919	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P582L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCCGAGCCGGGCTACCTG	0.697																																						ENST00000231137.3																			1	Substitution - Missense(1)	p.P582L(1)	kidney(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1744-1746)cCg>cTg									27.0	38.0	34.0					5																	140554161		2069	4111	6180	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554161C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1745C>T	5.37:g.140554161C>T	ENSP00000231137:p.Pro582Leu						p.P582L	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1919	+			582			Cadherin 6.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1745C>T	CCDS4249.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.25|14.25	2.478042|2.478042	0.44044|0.44044	.|.	.|.	ENSG00000113212|ENSG00000113212	ENST00000231137|ENST00000543636	T|.	0.68903|.	-0.36|.	4.3|4.3	2.47|2.47	0.30058|0.30058	Cadherin (3);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.56659|0.56659	0.2000|0.2000	M|M	0.80422|0.80422	2.495|2.495	0.09310|0.09310	N|N	0.999996|0.999996	P|.	0.49253|.	0.921|.	B|.	0.41571|.	0.36|.	T|T	0.51647|0.51647	-0.8679|-0.8679	9|6	0.66056|0.87932	D|D	0.02|0	.|.	6.7023|6.7023	0.23232|0.23232	0.3129:0.6026:0.0:0.0845|0.3129:0.6026:0.0:0.0845	.|.	582|.	Q9Y5E2|.	PCDB7_HUMAN|.	L|W	582|365	ENSP00000231137:P582L|.	ENSP00000231137:P582L|ENSP00000440828:R365W	P|R	+|+	2|1	0|2	PCDHB7|PCDHB7	140534345|140534345	0.000000|0.000000	0.05858|0.05858	0.942000|0.942000	0.38095|0.38095	0.744000|0.744000	0.42396|0.42396	0.121000|0.121000	0.15667|0.15667	0.359000|0.359000	0.24239|0.24239	0.449000|0.449000	0.29647|0.29647	CCG|CGG		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		7	22	0	0	0	1	0	7	22				
ALG3	10195	broad.mit.edu	37	3	183960405	183960405	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:183960405C>T	ENST00000397676.3	-	9	1244	c.1214G>A	c.(1213-1215)aGc>aAc	p.S405N	ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000455059.1_Missense_Mutation_p.S365N|MIR1224_ENST00000408193.1_RNA|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.S357N|ALG3_ENST00000418734.2_Missense_Mutation_p.S349N	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	405					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCAGCAGAGCTGCAGGATGT	0.572																																						ENST00000455059.1																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(1093-1095)aGc>aAc		ALG3, alpha-1,3- mannosyltransferase							63.0	67.0	66.0					3																	183960405		2055	4214	6269	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183960405C>T	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1214G>A	3.37:g.183960405C>T	ENSP00000380793:p.Ser405Asn					EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.S357N|ALG3_ENST00000397676.3_Missense_Mutation_p.S405N|ALG3_ENST00000418734.2_Missense_Mutation_p.S349N	p.S365N			Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1548	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		405					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.1094G>A	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227841	0.79576	.	.	ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	5.62	5.62	0.85841	.	0.000000	0.85682	U	0.000000	D	0.96433	0.8836	H	0.95187	3.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.97323	0.9945	10	0.87932	D	0	-14.5266	18.6456	0.91409	0.0:1.0:0.0:0.0	.	357;349;365;405	A8JZZ6;B4DS50;C9J7S5;Q92685	.;.;.;ALG3_HUMAN	N	349;405;357;365	ENSP00000402976:S349N;ENSP00000380793:S405N;ENSP00000402744:S357N;ENSP00000397613:S365N	ENSP00000380793:S405N	S	-	2	0	ALG3	185443099	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.966000	0.70395	2.645000	0.89757	0.462000	0.41574	AGC		0.572	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		5	99	0	0	0	1	0	5	99				
EHD3	30845	broad.mit.edu	37	2	31484489	31484489	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:31484489G>A	ENST00000322054.5	+	5	1275	c.990G>A	c.(988-990)gaG>gaA	p.E330E	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	330					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.E330E(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AGAAGAAGGAGCTGGTCAACA	0.572																																						ENST00000322054.5																			1	Substitution - coding silent(1)	p.E330E(1)	kidney(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(988-990)gaG>gaA		EH-domain containing 3							152.0	140.0	144.0					2																	31484489		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484489G>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.990G>A	2.37:g.31484489G>A						EHD3_ENST00000541626.1_Intron	p.E330E	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			5	1275	+	Acute lymphoblastic leukemia(172;0.155)		330					B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.990G>A	CCDS1774.1																																																																																				0.572	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		203	86	0	0	0	1	0	203	86				
FNBP4	23360	broad.mit.edu	37	11	47738988	47738988	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:47738988C>A	ENST00000263773.5	-	17	3052	c.3040G>T	c.(3040-3042)Gct>Tct	p.A1014S	AGBL2_ENST00000298861.4_5'Flank|AGBL2_ENST00000528244.1_5'Flank|AGBL2_ENST00000529712.1_5'Flank|AGBL2_ENST00000357610.3_5'Flank|AGBL2_ENST00000525123.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	1014						nucleus (GO:0005634)		p.M1013_A1014>IS(1)|p.A1014S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GTGTTTGGAGCCATTTTCCTT	0.333																																						ENST00000263773.5																			2	Substitution - Missense(1)|Complex - compound substitution(1)	p.M1013_A1014>IS(1)|p.A1014S(1)	kidney(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(3040-3042)Gct>Tct		formin binding protein 4							75.0	69.0	71.0					11																	47738988		1820	4077	5897	SO:0001583	missense	23360							g.chr11:47738988C>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.3040G>T	11.37:g.47738988C>A	ENSP00000263773:p.Ala1014Ser						p.A1014S	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			17	3052	-			1014					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.3040G>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012385	0.35511	.	.	ENSG00000109920	ENST00000263773	T	0.34472	1.36	5.79	-0.524	0.11920	.	0.336553	0.30704	N	0.009043	T	0.18800	0.0451	N	0.14661	0.345	0.27063	N	0.96351	B	0.20368	0.044	B	0.18561	0.022	T	0.12760	-1.0535	10	0.39692	T	0.17	-4.0707	9.6337	0.39795	0.0:0.6018:0.0884:0.3098	.	1014	Q8N3X1	FNBP4_HUMAN	S	1014	ENSP00000263773:A1014S	ENSP00000263773:A1014S	A	-	1	0	FNBP4	47695564	0.109000	0.22037	0.982000	0.44146	0.829000	0.46940	-0.386000	0.07370	-0.322000	0.08615	-2.048000	0.00412	GCT		0.333	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			10	121	1	0	1.58986e-06	1	1.74497e-06	10	121				
ANK3	288	broad.mit.edu	37	10	61840378	61840378	+	Splice_Site	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:61840378T>A	ENST00000280772.2	-	36	4542		c.e36-2		ANK3_ENST00000373827.2_Splice_Site|Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000503366.1_Splice_Site|ANK3_ENST00000355288.2_Splice_Site	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTCAATCTGAAAAGGAAA	0.378																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.e36-2		ankyrin 3, node of Ranvier (ankyrin G)							62.0	59.0	60.0					10																	61840378		2203	4300	6503	SO:0001630	splice_region_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61840378T>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4351-2A>T	10.37:g.61840378T>A						ANK3_ENST00000503366.1_Splice_Site|ANK3_ENST00000373827.2_Splice_Site|ANK3_ENST00000355288.2_Splice_Site		NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			36	4542	-								B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Splice_Site	SNP	ENST00000280772.2	37		CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.48|18.48	3.632590|3.632590	0.67015|0.67015	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304|ENST00000511043	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.36|15.36	0.74464|0.74464	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|X	-1|1	.|.	.|.	.|R	-|-	.|1	.|2	ANK3|ANK3	61510384|61510384	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.974000|0.974000	0.67602|0.67602	7.698000|7.698000	0.84413|0.84413	2.029000|2.029000	0.59856|0.59856	0.460000|0.460000	0.39030|0.39030	.|AGA		0.378	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	Intron	4	56	0	0	0	1	0	4	56				
CTDSPL2	51496	broad.mit.edu	37	15	44751187	44751187	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:44751187A>T	ENST00000260327.4	+	2	539		c.e2-1		CTDSPL2_ENST00000558373.1_5'Flank|CTDSPL2_ENST00000558966.1_Splice_Site|CTDSPL2_ENST00000396780.1_Splice_Site	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2								phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		tttCTCTTTTAGTTTTACATG	0.343																																						ENST00000260327.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13						c.e2-1		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2							35.0	38.0	37.0					15																	44751187		2195	4296	6491	SO:0001630	splice_region_variant	51496						phosphoprotein phosphatase activity	g.chr15:44751187A>T	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.-24-1A>T	15.37:g.44751187A>T						CTDSPL2_ENST00000558966.1_Splice_Site|CTDSPL2_ENST00000396780.1_Splice_Site		NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	2	539	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)						Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Splice_Site	SNP	ENST00000260327.4	37		CCDS10110.1																																																																																				0.343	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396	Intron	5	19	0	0	0	1	0	5	19				
RASGRP2	10235	broad.mit.edu	37	11	64507132	64507132	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:64507132G>C	ENST00000354024.3	-	7	924	c.672C>G	c.(670-672)atC>atG	p.I224M	RASGRP2_ENST00000377497.3_Missense_Mutation_p.I224M|RASGRP2_ENST00000377494.1_Missense_Mutation_p.I224M|RASGRP2_ENST00000394432.3_Missense_Mutation_p.I224M	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	224	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)	p.I286M(1)		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						CAAAGTGTGTGATGACCAGGG	0.637																																						ENST00000377494.1																			1	Substitution - Missense(1)	p.I286M(1)	kidney(1)	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.(670-672)atC>atG		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							84.0	97.0	92.0					11																	64507132		2201	4297	6498	SO:0001583	missense	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.chr11:64507132G>C	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.672C>G	11.37:g.64507132G>C	ENSP00000338864:p.Ile224Met					RASGRP2_ENST00000354024.3_Missense_Mutation_p.I224M|RASGRP2_ENST00000394432.3_Missense_Mutation_p.I224M|RASGRP2_ENST00000377497.3_Missense_Mutation_p.I224M	p.I224M			Q7LDG7	GRP2_HUMAN			6	1594	-			224			Ras-GEF.		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.672C>G	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726841	0.69074	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	4.63	4.63	0.57726	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.052243	0.85682	D	0.000000	T	0.49474	0.1559	M	0.65498	2.005	0.80722	D	1	B;P	0.41393	0.208;0.748	B;P	0.54924	0.433;0.764	T	0.47249	-0.9132	10	0.46703	T	0.11	-15.6043	9.0912	0.36612	0.1019:0.0:0.8981:0.0	.	224;224	Q7LDG7;A6NDC7	GRP2_HUMAN;.	M	224	ENSP00000366714:I224M;ENSP00000377953:I224M;ENSP00000366717:I224M;ENSP00000338864:I224M;ENSP00000399114:I224M	ENSP00000338864:I224M	I	-	3	3	RASGRP2	64263708	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.834000	0.55798	2.295000	0.77249	0.555000	0.69702	ATC		0.637	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		22	61	0	0	0	1	0	22	61				
C1orf141	400757	broad.mit.edu	37	1	67559027	67559027	+	Silent	SNP	C	C	T	rs139606703		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:67559027C>T	ENST00000371007.2	-	8	973	c.864G>A	c.(862-864)gcG>gcA	p.A288A	C1orf141_ENST00000371006.1_Silent_p.A288A|C1orf141_ENST00000544837.1_Silent_p.A288A	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	288										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTGTGTGGCCCGCTTTAAAAG	0.323													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15789	0.0		0.0	False		,,,				2504	0.0					ENST00000371007.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(862-864)gcG>gcA		chromosome 1 open reading frame 141		C		1,4405	2.1+/-5.4	0,1,2202	89.0	90.0	89.0		864	-9.1	0.0	1	dbSNP_134	89	0,8598		0,0,4299	no	coding-synonymous	C1orf141	NM_001013674.1		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		288/401	67559027	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	400757							g.chr1:67559027C>T	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.864G>A	1.37:g.67559027C>T						C1orf141_ENST00000544837.1_Silent_p.A288A|C1orf141_ENST00000371006.1_Silent_p.A288A	p.A288A	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN			8	973	-			288					Q0P5P5|Q5JVX5	Silent	SNP	ENST00000371007.2	37	c.864G>A	CCDS30745.1																																																																																				0.323	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		6	51	0	0	0	1	0	6	51				
SLC9C2	284525	broad.mit.edu	37	1	173523955	173523955	+	Splice_Site	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:173523955T>A	ENST00000367714.3	-	11	1638		c.e11-2		SLC9C2_ENST00000536496.1_Splice_Site|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)						sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GAGTATAAACTAAAAACAAAG	0.294																																						ENST00000367714.3																			0											c.e11-2		solute carrier family 9, member C2 (putative)							87.0	92.0	90.0					1																	173523955		2202	4295	6497	SO:0001630	splice_region_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173523955T>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1216-2A>T	1.37:g.173523955T>A						SLC9C2_ENST00000536496.1_Splice_Site|SLC9C2_ENST00000466087.1_Intron		NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			11	1638	-								Q86UF3	Splice_Site	SNP	ENST00000367714.3	37		CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	9.782	1.175645	0.21704	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3801	0.55301	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC9A11	171790578	1.000000	0.71417	0.966000	0.40874	0.062000	0.15995	3.446000	0.52928	2.172000	0.68678	0.533000	0.62120	.		0.294	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	Intron	6	121	0	0	0	1	0	6	121				
FMN1	342184	broad.mit.edu	37	15	33091085	33091085	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:33091085G>A	ENST00000559047.1	-	16	4049	c.4050C>T	c.(4048-4050)taC>taT	p.Y1350Y	FMN1_ENST00000561249.1_Silent_p.Y1252Y|FMN1_ENST00000334528.9_Silent_p.Y1127Y			Q68DA7	FMN1_HUMAN	formin 1	1350	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCATAAACACGTAGCTGGGTG	0.403																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(3379-3381)taC>taT		formin 1							107.0	97.0	100.0					15																	33091085		1882	4122	6004	SO:0001819	synonymous_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33091085G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.4050C>T	15.37:g.33091085G>A						FMN1_ENST00000561249.1_Silent_p.Y1252Y|FMN1_ENST00000559047.1_Silent_p.Y1350Y	p.Y1127Y	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	15	3380	-		all_lung(180;1.14e-07)	1350			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.3381C>T																																																																																					0.403	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		5	101	0	0	0	1	0	5	101				
TLN2	83660	broad.mit.edu	37	15	63030443	63030443	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:63030443A>G	ENST00000561311.1	+	29	3828	c.3598A>G	c.(3598-3600)Aac>Gac	p.N1200D	TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.N1200D			Q9Y4G6	TLN2_HUMAN	talin 2	1200					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.N1200D(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTCCTTGAATAACTGCGTAAA	0.502																																						ENST00000561311.1																			1	Substitution - Missense(1)	p.N1200D(1)	kidney(1)	NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(3598-3600)Aac>Gac		talin 2							144.0	128.0	133.0					15																	63030443		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.chr15:63030443A>G	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.3598A>G	15.37:g.63030443A>G	ENSP00000453508:p.Asn1200Asp					TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.N1200D	p.N1200D			Q9Y4G6	TLN2_HUMAN			29	3828	+			1200					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3598A>G	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555221	0.65425	.	.	ENSG00000171914	ENST00000306829	T	0.13778	2.56	5.35	5.35	0.76521	.	0.132804	0.64402	D	0.000002	T	0.15132	0.0365	L	0.46157	1.445	0.49582	D	0.999803	B	0.25850	0.136	B	0.28991	0.097	T	0.06373	-1.0830	10	0.20046	T	0.44	-23.0431	15.6362	0.76953	1.0:0.0:0.0:0.0	.	1200	Q9Y4G6	TLN2_HUMAN	D	1200	ENSP00000303476:N1200D	ENSP00000303476:N1200D	N	+	1	0	TLN2	60817735	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.451000	0.80668	2.155000	0.67459	0.533000	0.62120	AAC		0.502	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			237	171	0	0	0	1	0	237	171				
HMCN1	83872	broad.mit.edu	37	1	186086589	186086589	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:186086589A>T	ENST00000271588.4	+	77	11912		c.e77-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTTGTTTTAGTTCCACCTT	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e77-1		hemicentin 1							70.0	69.0	70.0					1																	186086589		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186086589A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11684-1A>T	1.37:g.186086589A>T						HMCN1_ENST00000367492.2_Splice_Site		NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			77	11912	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37		CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669800	0.88348	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8909	0.79296	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184353212	1.000000	0.71417	0.969000	0.41365	0.967000	0.64934	9.339000	0.96797	2.146000	0.66826	0.533000	0.62120	.		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	6	70	0	0	0	1	0	6	70				
NPAS3	64067	broad.mit.edu	37	14	33836390	33836390	+	Splice_Site	SNP	A	A	T	rs202236525		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:33836390A>T	ENST00000356141.4	+	4	385		c.e4-1		NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000548645.1_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000551008.1_Splice_Site			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTCTTTTAAGTTATAGGTG	0.368																																						ENST00000548645.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.e3-1		neuronal PAS domain protein 3							40.0	40.0	40.0					14																	33836390		2203	4300	6503	SO:0001630	splice_region_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33836390A>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.386-1A>T	14.37:g.33836390A>T						NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000356141.4_Splice_Site				Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	3	340	+	Breast(36;0.0102)|Hepatocellular(127;0.133)							Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Splice_Site	SNP	ENST00000356141.4	37		CCDS53891.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008521	0.75046	.	.	ENSG00000151322	ENST00000551634;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798;ENST00000551008;ENST00000546849	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6625	0.77199	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPAS3	32906141	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.499000	0.81566	2.107000	0.64212	0.533000	0.62120	.		0.368	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		Intron	4	31	0	0	0	1	0	4	31				
ARHGAP27	201176	broad.mit.edu	37	17	43481848	43481848	+	Missense_Mutation	SNP	C	C	A	rs112715622	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:43481848C>A	ENST00000428638.1	-	5	1375	c.1376G>T	c.(1375-1377)gGt>gTt	p.G459V	ARHGAP27_ENST00000442348.1_Missense_Mutation_p.G432V|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.G259V|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.G459V|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.G118V|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.G118V|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.G91V			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	459					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TGGGGTGTCACCATCCTGGCT	0.607													C|||	2	0.000399361	0.0	0.0	5008	,	,		18414	0.0		0.002	False		,,,				2504	0.0					ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(775-777)gGt>gTt		Rho GTPase activating protein 27		C	VAL/GLY	7,4399	12.9+/-30.5	0,7,2196	62.0	62.0	62.0		353	1.4	0.3	17	dbSNP_132	62	40,8560	26.3+/-74.7	0,40,4260	yes	missense	ARHGAP27	NM_199282.2	109	0,47,6456	AA,AC,CC		0.4651,0.1589,0.3614	benign	118/549	43481848	47,12959	2203	4300	6503	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43481848C>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1376G>T	17.37:g.43481848C>A	ENSP00000403323:p.Gly459Val					ARHGAP27_ENST00000455881.1_Missense_Mutation_p.G118V|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.G432V|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.G91V|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.G459V|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.G459V|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.G118V	p.G259V			Q6ZUM4	RHG27_HUMAN			5	911	-	Renal(3;0.0405)		459			WW 1.		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.776G>T		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	5.554	0.287023	0.10513	0.001589	0.004651	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881;ENST00000528677	T;T;T;T;T;T;T;T	0.47177	2.76;3.11;3.1;2.76;2.76;3.09;3.11;0.85	5.83	1.42	0.22433	.	4.601480	0.00166	N	0.000008	T	0.32466	0.0830	N	0.14661	0.345	0.58432	D	0.999996	B;B;B	0.30146	0.112;0.27;0.215	B;B;B	0.29716	0.094;0.106;0.067	T	0.09292	-1.0681	10	0.24483	T	0.36	.	7.239	0.26086	0.125:0.6472:0.0:0.2278	.	259;432;459	B7Z6T0;F8WBX1;Q6ZUM4	.;.;RHG27_HUMAN	V	259;118;91;459;459;432;118;202	ENSP00000432762:G259V;ENSP00000366121:G118V;ENSP00000431591:G91V;ENSP00000433942:G459V;ENSP00000403323:G459V;ENSP00000409330:G432V;ENSP00000408235:G118V;ENSP00000437100:G202V	ENSP00000366121:G118V	G	-	2	0	ARHGAP27	40837631	0.848000	0.29623	0.341000	0.25589	0.056000	0.15407	0.046000	0.14035	0.391000	0.25143	-1.094000	0.02160	GGT		0.607	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		4	37	1	0	0.014758	1	0.0150081	4	37				
ZADH2	284273	broad.mit.edu	37	18	72914297	72914297	+	Splice_Site	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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	7	151	0	0	0	1	0	7	151				
ESPNP	284729	broad.mit.edu	37	1	17023403	17023403	+	RNA	SNP	G	G	A	rs10907267	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:17023403G>A	ENST00000492551.1	-	0	1544					NR_026567.1				espin pseudogene																		GGAACATCACGTTGAAAGACT	0.622													g|||	1575	0.314497	0.1225	0.3573	5008	,	,		39681	0.4563		0.332	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			284729							g.chr1:17023403G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023403G>A								NR_026567.1						0	1544	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			5	71	0	0	0	1	0	5	71				
REG1P	5969	broad.mit.edu	37	2	79365129	79365129	+	RNA	SNP	G	G	A	rs3819310	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:79365129G>A	ENST00000444841.1	-	0	129									regenerating islet-derived 1 pseudogene																		CAGGAGATCAGCATGAAGCAT	0.502													G|||	260	0.0519169	0.0015	0.196	5008	,	,		20063	0.1141		0.002	False		,,,				2504	0.0051					ENST00000444841.1																			0																																																			5969							g.chr2:79365129G>A			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79365129G>A														0	129	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.502	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		9	153	0	0	0	1	0	9	153				
TRAV6	6956	broad.mit.edu	37	14	22236771	22236771	+	RNA	SNP	C	C	T	rs11623408	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr14:22236771C>T	ENST00000390428.3	+	0	43									T cell receptor alpha variable 6																		GTCTACATTTCAGGCCACATT	0.468													C|||	777	0.155152	0.1172	0.1455	5008	,	,		21523	0.1171		0.2406	False		,,,				2504	0.1646					ENST00000390428.3																			0															C		572,3278		33,506,1386	248.0	246.0	247.0			-2.3	0.0	14	dbSNP_120	247	1972,6282		227,1518,2382	no	intergenic				260,2024,3768	TT,TC,CC		23.8914,14.8571,21.0178			22236771	2544,9560	1925	4127	6052			6956							g.chr14:22236771C>T	Z49060		14q11.2	2012-02-07			ENSG00000211780	ENSG00000211780		"""T cell receptors / TRA locus"""	12144	other	T cell receptor gene				TCRAV5S1		8188290, 8530018	Standard	NG_001332		Approved				OTTHUMG00000168984		14.37:g.22236771C>T														0	43	+									RNA	SNP	ENST00000390428.3	37																																																																																						0.468	TRAV6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401882.1	NG_001332		22	389	0	0	0	1	0	22	389				
PPP1R15B	84919	broad.mit.edu	37	1	204378920	204378920	+	Missense_Mutation	SNP	T	T	A	rs537467435	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:204378920T>A	ENST00000367188.4	-	1	1999	c.1620A>T	c.(1618-1620)gaA>gaT	p.E540D	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	540					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.E540D(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CCCAGTCATCTTCCTCCCCAG	0.458																																						ENST00000367188.4																			1	Substitution - Missense(1)	p.E540D(1)	kidney(1)	breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34						c.(1618-1620)gaA>gaT		protein phosphatase 1, regulatory subunit 15B							58.0	58.0	58.0					1																	204378920		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204378920T>A	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1620A>T	1.37:g.204378920T>A	ENSP00000356156:p.Glu540Asp					RP11-739N20.2_ENST00000443515.1_RNA	p.E540D	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1999	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		540					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.1620A>T	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.724677	0.48833	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.19394	2.15	5.38	-7.88	0.01178	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.746215	0.13044	N	0.418281	T	0.08758	0.0217	L	0.28014	0.82	0.36487	D	0.868218	B	0.20550	0.046	B	0.22601	0.04	T	0.17077	-1.0381	10	0.28530	T	0.3	-6.382	2.3305	0.04234	0.1917:0.3548:0.2793:0.1742	.	540	Q5SWA1	PR15B_HUMAN	D	540;450	ENSP00000356156:E540D	ENSP00000356156:E540D	E	-	3	2	PPP1R15B	202645543	0.001000	0.12720	0.941000	0.38009	0.786000	0.44442	-1.432000	0.02430	-1.053000	0.03218	-0.250000	0.11733	GAA		0.458	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		14	23	0	0	0	1	0	14	23				
RPS29	6235	broad.mit.edu	37	14	50053045	50053045	+	Missense_Mutation	SNP	T	T	C	rs368998907		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr14:50053045T>C	ENST00000245458.6	-	1	49	c.20A>G	c.(19-21)tAc>tGc	p.Y7C	RPS29_ENST00000396020.3_Missense_Mutation_p.Y7C|RN7SL1_ENST00000553637.1_RNA|RPS29_ENST00000557111.1_Intron	NM_001032.3	NP_001023.1	P62273	RS29_HUMAN	ribosomal protein S29	7					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270)	p.Y7C(2)		endometrium(1)|kidney(1)|lung(1)|ovary(1)	4	all_epithelial(31;0.00214)|Breast(41;0.0124)					GTGGCTCCAGTACAGCTGCTG	0.522																																						ENST00000396020.3																			2	Substitution - Missense(2)	p.Y7C(2)	kidney(2)	endometrium(1)|kidney(1)|lung(1)|ovary(1)	4						c.(19-21)tAc>tGc		ribosomal protein S29		T	CYS/TYR,CYS/TYR	0,4406		0,0,2203	57.0	63.0	61.0		20,20	5.4	1.0	14		61	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	RPS29	NM_001032.3,NM_001030001.1	194,194	0,1,6500	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	7/57,7/68	50053045	1,13001	2203	4298	6501	SO:0001583	missense	6235				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome|zinc ion binding	g.chr14:50053045T>C	L31610	CCDS9685.1, CCDS32072.1	14q21.3	2011-04-06			ENSG00000213741	ENSG00000213741		"""S ribosomal proteins"""	10419	protein-coding gene	gene with protein product		603633				8781548, 7772601	Standard	NM_001032		Approved	S29	uc001wwl.4	P62273	OTTHUMG00000140272	ENST00000245458.6:c.20A>G	14.37:g.50053045T>C	ENSP00000245458:p.Tyr7Cys					RPS29_ENST00000557111.1_Intron|RPS29_ENST00000245458.6_Missense_Mutation_p.Y7C	p.Y7C	NM_001030001.1	NP_001025172.1	P62273	RS29_HUMAN			1	49	-	all_epithelial(31;0.00214)|Breast(41;0.0124)		7					A8MZ73|P30054	Missense_Mutation	SNP	ENST00000245458.6	37	c.20A>G	CCDS9685.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.784197	0.70222	0.0	1.16E-4	ENSG00000213741	ENST00000396020;ENST00000245458	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	.	.	.	0.80722	D	1	B;B	0.32101	0.013;0.356	B;B	0.35688	0.072;0.208	T	0.63603	-0.6600	8	0.66056	D	0.02	-43.0981	14.4156	0.67148	0.0:0.0:0.0:1.0	.	7;7	P62273;A8MZ73	RS29_HUMAN;.	C	7	.	ENSP00000245458:Y7C	Y	-	2	0	RPS29	49122795	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.288000	0.78691	2.272000	0.75746	0.460000	0.39030	TAC		0.522	RPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276809.1	NM_001030001		37	137	0	0	0	1	0	37	137				
TP63	8626	broad.mit.edu	37	3	189349247	189349247	+	De_novo_Start_OutOfFrame	SNP	A	A	T	rs28673064	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:189349247A>T	ENST00000264731.3	+	0	32				TP63_ENST00000320472.5_5'Flank|TP63_ENST00000418709.2_5'Flank|TP63_ENST00000440651.2_5'Flank|TP63_ENST00000382063.4_De_novo_Start_OutOfFrame|TP63_ENST00000392460.3_5'Flank	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACACAGGTATATGTGTATATT	0.368										HNSCC(45;0.13)			A|||	2442	0.48762	0.3865	0.3458	5008	,	,		17938	0.7361		0.4712	False		,,,				2504	0.4857					ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61								tumor protein p63		A	,,	551,833		105,341,246	37.0	34.0	35.0		,,	5.7	1.0	3	dbSNP_125	35	1542,1640		368,806,417	no	utr-5,utr-5,utr-5	TP63	NM_001114978.1,NM_001114979.1,NM_003722.4	,,	473,1147,663	TT,TA,AA		48.4601,39.8121,45.8388	,,	,,	189349247	2093,2473	692	1591	2283			8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189349247A>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.-58A>T	3.37:g.189349247A>T		HNSCC(45;0.13)				TP63_ENST00000382063.4_De_novo_Start_OutOfFrame		NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	0	32	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)							O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Translation_Start_Site	SNP	ENST00000264731.3	37		CCDS3293.1																																																																																				0.368	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		3	24	0	0	0	1	0	3	24				
THRAP3	9967	broad.mit.edu	37	1	36755101	36755101	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:36755101C>T	ENST00000354618.5	+	5	1705	c.1481C>T	c.(1480-1482)tCt>tTt	p.S494F	THRAP3_ENST00000469141.2_Missense_Mutation_p.S494F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	494	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S494F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGGAGGAGTCTTTCCCAGAG	0.507			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)	p.S494F(1)	kidney(1)	breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(1480-1482)tCt>tTt		thyroid hormone receptor associated protein 3							80.0	90.0	87.0					1																	36755101		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36755101C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1481C>T	1.37:g.36755101C>T	ENSP00000346634:p.Ser494Phe					THRAP3_ENST00000469141.2_Missense_Mutation_p.S494F	p.S494F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			5	1705	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	494					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.1481C>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816412	0.50527	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.10573	2.86;2.86	5.84	5.84	0.93424	.	0.451495	0.23060	N	0.052390	T	0.12263	0.0298	L	0.36672	1.1	0.36344	D	0.859667	P	0.44380	0.834	B	0.42282	0.382	T	0.07309	-1.0779	10	0.42905	T	0.14	-1.486	15.3925	0.74758	0.0:0.851:0.149:0.0	.	494	Q9Y2W1	TR150_HUMAN	F	494	ENSP00000346634:S494F;ENSP00000433825:S494F	ENSP00000346634:S494F	S	+	2	0	THRAP3	36527688	0.816000	0.29132	0.993000	0.49108	0.953000	0.61014	3.354000	0.52254	2.765000	0.95021	0.655000	0.94253	TCT		0.507	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		62	138	0	0	0	1	0	62	138				
MYZAP	100820829	broad.mit.edu	37	15	57913819	57913819	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr15:57913819T>C	ENST00000267853.5	+	4	426	c.332T>C	c.(331-333)tTg>tCg	p.L111S	POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000574161.1_Missense_Mutation_p.L111S|GCOM1_ENST00000380569.2_Missense_Mutation_p.L111S|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000396180.1_Intron|MYZAP_ENST00000380565.4_Missense_Mutation_p.L111S|GCOM1_ENST00000380568.3_Missense_Mutation_p.L111S|GCOM1_ENST00000587652.1_Missense_Mutation_p.L111S|GCOM1_ENST00000572390.1_Missense_Mutation_p.L111S|GCOM1_ENST00000380560.2_Intron			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	111					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)		p.L111S(2)									AGAGCCACTTTGGAAAAGGTG	0.383																																						ENST00000574161.1																			2	Substitution - Missense(2)	p.L111S(2)	kidney(2)	endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(331-333)tTg>tCg									127.0	123.0	124.0					15																	57913819		2192	4292	6484	SO:0001583	missense	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57913819T>C	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.332T>C	15.37:g.57913819T>C	ENSP00000267853:p.Leu111Ser					GCOM1_ENST00000380569.2_Missense_Mutation_p.L111S|GCOM1_ENST00000380568.3_Missense_Mutation_p.L111S|GCOM1_ENST00000587652.1_Missense_Mutation_p.L111S|MYZAP_ENST00000267853.5_Missense_Mutation_p.L111S|MYZAP_ENST00000380565.4_Missense_Mutation_p.L111S|GCOM1_ENST00000380561.2_Intron|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000572390.1_Missense_Mutation_p.L111S|GCOM1_ENST00000396180.1_Intron	p.L111S	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			4	451	+			111					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.332T>C	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174407	0.78452	.	.	ENSG00000137878	ENST00000380569;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T	0.46451	0.91;0.89;0.9;0.87	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	L	0.58101	1.795	0.80722	D	1	P;P;D;P	0.53151	0.481;0.887;0.958;0.952	B;P;P;P	0.53689	0.302;0.638;0.638;0.732	T	0.57596	-0.7784	10	0.87932	D	0	-4.7376	15.1622	0.72793	0.0:0.0:0.0:1.0	.	111;111;111;111	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	S	111	ENSP00000369943:L111S;ENSP00000267853:L111S;ENSP00000369939:L111S;ENSP00000369942:L111S	ENSP00000267853:L111S	L	+	2	0	GCOM1	55701111	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.989000	0.70587	2.280000	0.76307	0.523000	0.50628	TTG		0.383	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		83	164	0	0	0	1	0	83	164				
PCNXL3	399909	broad.mit.edu	37	11	65392741	65392741	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:65392741A>T	ENST00000355703.3	+	17	3558	c.3019A>T	c.(3019-3021)Acc>Tcc	p.T1007S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1007						integral component of membrane (GO:0016021)		p.T1007S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CAGCGACCCCACCGTGCTCTG	0.647																																						ENST00000355703.3																			1	Substitution - Missense(1)	p.T1007S(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(3019-3021)Acc>Tcc		pecanex-like 3 (Drosophila)							33.0	35.0	35.0					11																	65392741		2158	4262	6420	SO:0001583	missense	399909					integral to membrane		g.chr11:65392741A>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3019A>T	11.37:g.65392741A>T	ENSP00000347931:p.Thr1007Ser						p.T1007S	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			17	3558	+			1007					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.3019A>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	A	6.542	0.468176	0.12461	.	.	ENSG00000197136	ENST00000355703	T	0.05855	3.38	4.53	3.37	0.38596	.	.	.	.	.	T	0.02455	0.0075	N	0.11064	0.09	0.33477	D	0.586947	B	0.21520	0.057	B	0.15870	0.014	T	0.31223	-0.9951	9	0.02654	T	1	.	3.9973	0.09564	0.7163:0.0:0.1006:0.1831	.	1007	Q9H6A9	PCX3_HUMAN	S	1007	ENSP00000347931:T1007S	ENSP00000347931:T1007S	T	+	1	0	PCNXL3	65149317	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.015000	0.49599	1.921000	0.55644	0.459000	0.35465	ACC		0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		4	9	0	0	0	1	0	4	9				
PCDH20	64881	broad.mit.edu	37	13	61985847	61985847	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr13:61985847G>T	ENST00000409186.1	-	5	4490	c.2385C>A	c.(2383-2385)ttC>ttA	p.F795L	PCDH20_ENST00000409204.4_Missense_Mutation_p.F795L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	795	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.F795F(1)|p.F768F(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTCAATCCTGAAGGACTCAG	0.478																																						ENST00000409186.1																			2	Substitution - coding silent(2)	p.F795F(1)|p.F768F(1)	large_intestine(2)	breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(2383-2385)ttC>ttA		protocadherin 20							84.0	82.0	82.0					13																	61985847		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985847G>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2385C>A	13.37:g.61985847G>T	ENSP00000386653:p.Phe795Leu					PCDH20_ENST00000409204.4_Missense_Mutation_p.F795L	p.F795L			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	4490	-		Breast(118;0.195)|Prostate(109;0.229)	768			Cadherin 6.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2385C>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895743	0.52121	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.70749	-0.51;-0.51	6.06	-1.03	0.10102	.	0.000000	0.64402	D	0.000002	D	0.84028	0.5382	M	0.91038	3.17	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.83404	0.0024	10	0.87932	D	0	.	10.3059	0.43680	0.6612:0.0:0.3388:0.0	.	795	A8K1K9	.	L	795;795;541	ENSP00000387250:F795L;ENSP00000386653:F795L	ENSP00000351500:F541L	F	-	3	2	PCDH20	60883848	0.968000	0.33430	0.985000	0.45067	0.919000	0.55068	0.403000	0.20982	-0.308000	0.08792	-0.300000	0.09419	TTC		0.478	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		15	310	1	0	1.67942e-08	1	1.91018e-08	15	310				
INVS	27130	broad.mit.edu	37	9	103060386	103060386	+	Intron	SNP	T	T	G	rs3813712	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr9:103060386T>G	ENST00000262457.2	+	16	3276				INVS_ENST00000541287.1_Missense_Mutation_p.I966R|INVS_ENST00000262456.2_Intron	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin						embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTAGAACAGATATGGCCAGGG	0.418													G|||	3969	0.792532	0.8956	0.7738	5008	,	,		19987	0.8552		0.5905	False		,,,				2504	0.8098					ENST00000541287.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2896-2898)aTa>aGa		inversin																																				SO:0001627	intron_variant	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103060386T>G	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.3091+94T>G	9.37:g.103060386T>G						INVS_ENST00000262457.2_Intron|INVS_ENST00000262456.2_Intron	p.I966R			Q9Y283	INVS_HUMAN			17	3451	+		Acute lymphoblastic leukemia(62;0.056)	0					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	c.2897T>G	CCDS6746.1	1664	0.7619047619047619	442	0.8983739837398373	267	0.7375690607734806	507	0.8863636363636364	448	0.5910290237467019	G	5.162	0.215427	0.09810	.	.	ENSG00000119509	ENST00000541287	T	0.44083	0.93	3.74	-0.646	0.11472	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17258	-1.0375	6	.	.	.	.	3.6062	0.08043	0.3696:0.0:0.3568:0.2736	rs3813712;rs57714690;rs3813712	966	F5GZH2	.	R	966	ENSP00000444454:I966R	.	I	+	2	0	INVS	102100207	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.220000	0.01217	-0.396000	0.07703	-1.197000	0.01672	ATA		0.418	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		2	8	0	0	0	1	0	2	8				
OR5AP2	338675	broad.mit.edu	37	11	56409843	56409843	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:56409843C>T	ENST00000302981.1	-	1	72	c.73G>A	c.(73-75)Gac>Aac	p.D25N	OR5AP2_ENST00000544374.1_Missense_Mutation_p.D26N	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TCTGGATTGTCGGAAAGTCCT	0.383																																						ENST00000544374.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(76-78)Gac>Aac		olfactory receptor, family 5, subfamily AP, member 2							99.0	92.0	94.0					11																	56409843		2201	4296	6497	SO:0001583	missense	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409843C>T	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.73G>A	11.37:g.56409843C>T	ENSP00000303111:p.Asp25Asn					OR5AP2_ENST00000302981.1_Missense_Mutation_p.D25N	p.D26N			Q8NGF4	O5AP2_HUMAN			1	104	-			25					B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	c.76G>A	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	C	9.341	1.062927	0.19987	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00433	7.43;7.43	5.19	5.19	0.71726	.	0.682124	0.13296	N	0.398618	T	0.00271	0.0008	N	0.13352	0.335	0.48236	D	0.999618	B	0.26902	0.163	B	0.18561	0.022	T	0.82806	-0.0275	10	0.31617	T	0.26	.	14.157	0.65424	0.0:0.85:0.15:0.0	.	25	Q8NGF4	O5AP2_HUMAN	N	26;25	ENSP00000442701:D26N;ENSP00000303111:D25N	ENSP00000303111:D25N	D	-	1	0	OR5AP2	56166419	0.000000	0.05858	0.414000	0.26521	0.104000	0.19210	0.040000	0.13905	2.688000	0.91661	0.637000	0.83480	GAC		0.383	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		17	111	0	0	0	1	0	17	111				
ERP27	121506	broad.mit.edu	37	12	15068485	15068485	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:15068485C>A	ENST00000266397.2	-	6	1285	c.712G>T	c.(712-714)Gca>Tca	p.A238S	ERP27_ENST00000540097.1_Missense_Mutation_p.A137S|ERP27_ENST00000544881.1_5'Flank	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	238						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						GAAACTTCTGCTGTGGGCAGT	0.408																																						ENST00000266397.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						c.(712-714)Gca>Tca		endoplasmic reticulum protein 27							124.0	121.0	122.0					12																	15068485		2203	4300	6503	SO:0001583	missense	121506					endoplasmic reticulum lumen		g.chr12:15068485C>A	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.712G>T	12.37:g.15068485C>A	ENSP00000266397:p.Ala238Ser					ERP27_ENST00000540097.1_Missense_Mutation_p.A137S	p.A238S	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN			6	1285	-			238						Missense_Mutation	SNP	ENST00000266397.2	37	c.712G>T	CCDS8670.1	.	.	.	.	.	.	.	.	.	.	C	4.798	0.148305	0.09134	.	.	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.28454	1.61;1.61	4.79	-4.81	0.03180	Thioredoxin-like fold (1);	1.102500	0.06734	N	0.777097	T	0.18964	0.0455	L	0.36672	1.1	0.09310	N	1	B	0.15141	0.012	B	0.21917	0.037	T	0.36286	-0.9754	10	0.10902	T	0.67	-17.5862	6.5723	0.22545	0.1235:0.2742:0.0:0.6023	.	238	Q96DN0	ERP27_HUMAN	S	238;137	ENSP00000266397:A238S;ENSP00000440573:A137S	ENSP00000266397:A238S	A	-	1	0	ERP27	14959752	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.982000	0.03762	-0.936000	0.03723	0.655000	0.94253	GCA		0.408	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321		17	232	1	0	1.64113e-05	1	1.7592e-05	17	232				
PTPRZ1	5803	broad.mit.edu	37	7	121513577	121513577	+	Silent	SNP	C	C	T	rs140414935	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr7:121513577C>T	ENST00000393386.2	+	1	435	c.24C>T	c.(22-24)ctC>ctT	p.L8L	PTPRZ1_ENST00000449182.1_Silent_p.L8L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	8					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGCGTTTCCTCGCTTGCATTC	0.597													C|||	3	0.000599042	0.0008	0.0	5008	,	,		13018	0.0		0.002	False		,,,				2504	0.0					ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(22-24)ctC>ctT		protein tyrosine phosphatase, receptor-type, Z polypeptide 1		C	,,	4,4402	8.1+/-20.4	0,4,2199	106.0	100.0	102.0		24,24,24	4.3	1.0	7	dbSNP_134	102	33,8567	22.2+/-67.0	0,33,4267	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRZ1	NM_001206838.1,NM_001206839.1,NM_002851.2	,,	0,37,6466	TT,TC,CC		0.3837,0.0908,0.2845	,,	8/1456,8/1449,8/2316	121513577	37,12969	2203	4300	6503	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121513577C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.24C>T	7.37:g.121513577C>T						PTPRZ1_ENST00000449182.1_Silent_p.L8L	p.L8L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			1	435	+			8					A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.24C>T	CCDS34740.1																																																																																				0.597	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		5	92	0	0	0	1	0	5	92				
DCP2	167227	broad.mit.edu	37	5	112327832	112327832	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr5:112327832C>A	ENST00000389063.2	+	3	418	c.220C>A	c.(220-222)Ccg>Acg	p.P74T	DCP2_ENST00000515408.1_Missense_Mutation_p.P74T|DCP2_ENST00000543319.1_Intron	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	74					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAGTCATTGTCCGTTTTTGCT	0.338																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(220-222)Ccg>Acg		decapping mRNA 2							193.0	182.0	186.0					5																	112327832		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112327832C>A	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.220C>A	5.37:g.112327832C>A	ENSP00000373715:p.Pro74Thr					DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.P74T	p.P74T	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	3	418	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	74					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.220C>A	CCDS34210.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.670028	0.88348	.	.	ENSG00000172795	ENST00000515408;ENST00000389063	T;T	0.57273	0.41;0.41	5.69	5.69	0.88448	mRNA decapping protein 2, Box A (1);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	M	0.81497	2.545	0.80722	D	1	D	0.60575	0.988	P	0.58266	0.836	T	0.75690	-0.3230	10	0.72032	D	0.01	.	19.8209	0.96592	0.0:1.0:0.0:0.0	.	74	Q8IU60	DCP2_HUMAN	T	74	ENSP00000425770:P74T;ENSP00000373715:P74T	ENSP00000373715:P74T	P	+	1	0	DCP2	112355731	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.487000	0.81328	2.688000	0.91661	0.650000	0.86243	CCG		0.338	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		13	427	1	0	0.00074312	1	0.000785283	13	427				
RNASE9	390443	broad.mit.edu	37	14	21025051	21025051	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr14:21025051G>T	ENST00000557068.1	-	4	1903	c.178C>A	c.(178-180)Cct>Act	p.P60T	RNASE9_ENST00000338904.3_Missense_Mutation_p.P60T|RNASE9_ENST00000554964.1_Missense_Mutation_p.P60T|RNASE9_ENST00000404716.3_Missense_Mutation_p.P65T|RNASE9_ENST00000556208.1_Missense_Mutation_p.P65T|RNASE9_ENST00000557209.1_Missense_Mutation_p.P65T|RNASE9_ENST00000555230.1_Missense_Mutation_p.P60T|RNASE9_ENST00000553541.1_Missense_Mutation_p.P60T|RNASE9_ENST00000553706.1_Missense_Mutation_p.P65T|RNASE9_ENST00000429244.2_Missense_Mutation_p.P60T			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	60						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.P60T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TCTTTGGTAGGTGGTCTGGCG	0.358																																						ENST00000557068.1																			1	Substitution - Missense(1)	p.P60T(1)	kidney(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8						c.(178-180)Cct>Act		ribonuclease, RNase A family, 9 (non-active)							138.0	142.0	141.0					14																	21025051		2203	4300	6503	SO:0001583	missense	390443					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21025051G>T	AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"""Ribonucleases, RNase A"""	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.178C>A	14.37:g.21025051G>T	ENSP00000451565:p.Pro60Thr					RNASE9_ENST00000557209.1_Missense_Mutation_p.P65T|RNASE9_ENST00000554964.1_Missense_Mutation_p.P60T|RNASE9_ENST00000429244.2_Missense_Mutation_p.P60T|RNASE9_ENST00000556208.1_Missense_Mutation_p.P65T|RNASE9_ENST00000404716.3_Missense_Mutation_p.P65T|RNASE9_ENST00000555230.1_Missense_Mutation_p.P60T|RNASE9_ENST00000338904.3_Missense_Mutation_p.P60T|RNASE9_ENST00000553706.1_Missense_Mutation_p.P65T|RNASE9_ENST00000553541.1_Missense_Mutation_p.P60T	p.P60T			P60153	RNAS9_HUMAN	Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)	4	1903	-	all_cancers(95;0.00238)		60					A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Missense_Mutation	SNP	ENST00000557068.1	37	c.178C>A	CCDS32036.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.015057	0.35511	.	.	ENSG00000188655	ENST00000338904;ENST00000554964;ENST00000555230;ENST00000557068;ENST00000404716;ENST00000556208;ENST00000553541;ENST00000429244;ENST00000553706;ENST00000557209	T;T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	3.62	0.602	0.17535	Ribonuclease A, domain (1);	.	.	.	.	T	0.51346	0.1669	L	0.59436	1.845	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.34725	-0.9817	9	0.44086	T	0.13	-8.9295	2.1663	0.03838	0.1134:0.196:0.489:0.2016	.	60;65	P60153;P60153-2	RNAS9_HUMAN;.	T	60;60;60;60;65;65;60;60;65;65	ENSP00000340162:P60T;ENSP00000450599:P60T;ENSP00000450800:P60T;ENSP00000451565:P60T;ENSP00000384683:P65T;ENSP00000451160:P65T;ENSP00000451285:P60T;ENSP00000409504:P60T;ENSP00000450570:P65T;ENSP00000450987:P65T	ENSP00000340162:P60T	P	-	1	0	RNASE9	20094891	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.287000	0.18920	0.116000	0.18110	0.591000	0.81541	CCT		0.358	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411094.1	NM_001001673		6	127	1	0	0.00116845	1	0.00122604	6	127				
DMGDH	29958	broad.mit.edu	37	5	78340223	78340223	+	Missense_Mutation	SNP	G	G	A	rs145258663	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr5:78340223G>A	ENST00000255189.3	-	6	926	c.898C>T	c.(898-900)Ctc>Ttc	p.L300F	DMGDH_ENST00000380311.4_Missense_Mutation_p.L99F|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	300					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCCTGTCGGAGATAATATGAT	0.448													G|||	8	0.00159744	0.0	0.0029	5008	,	,		21476	0.0		0.006	False		,,,				2504	0.0					ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(898-900)Ctc>Ttc		dimethylglycine dehydrogenase		G	PHE/LEU	8,4398	15.5+/-35.6	0,8,2195	134.0	120.0	125.0		898	3.8	1.0	5	dbSNP_134	125	58,8542	36.4+/-91.3	1,56,4243	yes	missense	DMGDH	NM_013391.2	22	1,64,6438	AA,AG,GG		0.6744,0.1816,0.5075	benign	300/867	78340223	66,12940	2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78340223G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.898C>T	5.37:g.78340223G>A	ENSP00000255189:p.Leu300Phe					DMGDH_ENST00000380311.4_Missense_Mutation_p.L99F|DMGDH_ENST00000540686.1_Intron	p.L300F	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	6	926	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	300					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.898C>T	CCDS4044.1	6	0.0027472527472527475	0	0.0	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	G	14.74	2.626469	0.46840	0.001816	0.006744	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	D;D;D	0.82255	-1.59;-1.59;-1.59	5.59	3.77	0.43336	FAD dependent oxidoreductase (1);	0.064415	0.64402	D	0.000005	T	0.61173	0.2326	N	0.17764	0.52	0.80722	D	1	B;B;B	0.22146	0.065;0.004;0.005	B;B;B	0.23150	0.044;0.006;0.023	T	0.59408	-0.7460	10	0.28530	T	0.3	.	7.8267	0.29320	0.1421:0.1439:0.7139:0.0	.	99;150;300	F8W6P8;F5H1C7;Q9UI17	.;.;M2GD_HUMAN	F	300;139;99;150	ENSP00000255189:L300F;ENSP00000430972:L139F;ENSP00000369667:L99F	ENSP00000255189:L300F	L	-	1	0	DMGDH	78375979	1.000000	0.71417	0.977000	0.42913	0.807000	0.45602	4.047000	0.57383	1.338000	0.45544	0.650000	0.86243	CTC		0.448	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		12	145	0	0	0	1	0	12	145				
GUCY2D	3000	broad.mit.edu	37	17	7909785	7909785	+	Silent	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:7909785T>A	ENST00000254854.4	+	4	1281	c.1131T>A	c.(1129-1131)gcT>gcA	p.A377A		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	377					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)	p.A377A(1)		skin(1)	1		Prostate(122;0.157)				CCGGAGCAGCTGTGGCCCGCC	0.677																																						ENST00000254854.4																			1	Substitution - coding silent(1)	p.A377A(1)	kidney(1)	skin(1)	1						c.(1129-1131)gcT>gcA		guanylate cyclase 2D, membrane (retina-specific)							29.0	33.0	32.0					17																	7909785		2202	4299	6501	SO:0001819	synonymous_variant	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.chr17:7909785T>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.1131T>A	17.37:g.7909785T>A							p.A377A	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			4	1281	+		Prostate(122;0.157)	377					Q6LEA7	Silent	SNP	ENST00000254854.4	37	c.1131T>A	CCDS11127.1																																																																																				0.677	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			10	14	0	0	0	1	0	10	14				
MUC16	94025	broad.mit.edu	37	19	9065013	9065013	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:9065013G>A	ENST00000397910.4	-	3	22636	c.22433C>T	c.(22432-22434)gCa>gTa	p.A7478V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7480	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						TTTGGTTACTGCCGTGTTTGA	0.483																																						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.(22432-22434)gCa>gTa		mucin 16, cell surface associated							197.0	181.0	186.0					19																	9065013		1944	4149	6093	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065013G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22433C>T	19.37:g.9065013G>A	ENSP00000381008:p.Ala7478Val						p.A7478V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	22636	-			7480			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22433C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	7.107	0.575331	0.13623	.	.	ENSG00000181143	ENST00000397910	T	0.31769	1.48	2.91	-2.26	0.06867	.	.	.	.	.	T	0.14141	0.0342	N	0.24115	0.695	.	.	.	P	0.37101	0.582	B	0.32583	0.148	T	0.17930	-1.0353	8	0.87932	D	0	.	0.5577	0.00673	0.2477:0.192:0.3644:0.1959	.	7478	B5ME49	.	V	7478	ENSP00000381008:A7478V	ENSP00000381008:A7478V	A	-	2	0	MUC16	8926013	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.015000	0.00645	-0.343000	0.08351	-0.362000	0.07510	GCA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	494	0	0	0	1	0	15	494				
ZMYM4	9202	broad.mit.edu	37	1	35836041	35836041	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:35836041G>T	ENST00000314607.6	+	7	1074	c.994G>T	c.(994-996)Gtt>Ttt	p.V332F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.V332F|ZMYM4_ENST00000482131.1_3'UTR	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	332					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V332F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTTCCTTCAGTTCCAGCCAC	0.403																																						ENST00000314607.6																			1	Substitution - Missense(1)	p.V332F(1)	kidney(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(994-996)Gtt>Ttt		zinc finger, MYM-type 4							47.0	50.0	49.0					1																	35836041		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35836041G>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.994G>T	1.37:g.35836041G>T	ENSP00000322915:p.Val332Phe					ZMYM4_ENST00000373297.2_Missense_Mutation_p.V332F|ZMYM4_ENST00000482131.1_3'UTR	p.V332F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			7	1074	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	332					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.994G>T	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.99|16.99	3.274941|3.274941	0.59649|0.59649	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000457946|ENST00000314607;ENST00000373297	T|T;T	0.41400|0.44881	1.0|0.91;0.91	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.000000	.|0.64402	.|D	.|0.000009	T|T	0.43277|0.43277	0.1240|0.1240	L|L	0.54323|0.54323	1.7|1.7	0.33150|0.33150	D|D	0.545624|0.545624	.|B	.|0.24618	.|0.107	.|B	.|0.17098	.|0.017	T|T	0.53258|0.53258	-0.8464|-0.8464	7|10	0.66056|0.54805	D|T	0.02|0.06	-12.0346|-12.0346	19.4691|19.4691	0.94956|0.94956	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|332	.|Q5VZL5	.|ZMYM4_HUMAN	I|F	80|332	ENSP00000400506:S80I|ENSP00000322915:V332F;ENSP00000362394:V332F	ENSP00000400506:S80I|ENSP00000322915:V332F	S|V	+|+	2|1	0|0	ZMYM4|ZMYM4	35608628|35608628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.642000|4.642000	0.61383|0.61383	2.613000|2.613000	0.88420|0.88420	0.591000|0.591000	0.81541|0.81541	AGT|GTT		0.403	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		20	38	1	0	1.00905e-13	1	1.16549e-13	20	38				
NCOR2	9612	broad.mit.edu	37	12	124968161	124968161	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:124968161C>A	ENST00000405201.1	-	3	392	c.392G>T	c.(391-393)gGa>gTa	p.G131V	NCOR2_ENST00000397355.1_Missense_Mutation_p.G131V|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000404621.1_Missense_Mutation_p.G131V|NCOR2_ENST00000429285.2_Missense_Mutation_p.G131V|NCOR2_ENST00000356219.3_Missense_Mutation_p.G131V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	131					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.G131V(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCTTCAGATCCCGCAGGCTG	0.647																																						ENST00000356219.3																			2	Substitution - Missense(2)	p.G131V(2)	kidney(2)	breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(391-393)gGa>gTa		nuclear receptor corepressor 2							18.0	25.0	23.0					12																	124968161		1913	4113	6026	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124968161C>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.392G>T	12.37:g.124968161C>A	ENSP00000384018:p.Gly131Val					NCOR2_ENST00000405201.1_Missense_Mutation_p.G131V|NCOR2_ENST00000404621.1_Missense_Mutation_p.G131V|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.G131V|NCOR2_ENST00000429285.2_Missense_Mutation_p.G131V	p.G131V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	4	547	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		131					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.392G>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.079|1.079	-0.667510|-0.667510	0.03428|0.03428	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000542927|ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698;ENST00000448008	.|T;T;T;T;T;T	.|0.31769	.|2.23;2.48;2.23;2.48;2.48;1.48	4.92|4.92	-1.1|-1.1	0.09872|0.09872	.|.	.|0.833753	.|0.10302	.|U	.|0.691057	T|T	0.26702|0.26702	0.0653|0.0653	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	0.999996|0.999996	.|B;B;B	.|0.14012	.|0.005;0.005;0.009	.|B;B;B	.|0.21360	.|0.015;0.015;0.034	T|T	0.30534|0.30534	-0.9975|-0.9975	5|10	.|0.31617	.|T	.|0.26	-10.0725|-10.0725	15.1683|15.1683	0.72846|0.72846	0.0:0.2248:0.7041:0.0711|0.0:0.2248:0.7041:0.0711	.|.	.|131;131;131	.|C9J0Q5;C9J239;C9JFD3	.|.;.;.	Y|V	54|131;131;131;131;131;131;131;131;52	.|ENSP00000384018:G131V;ENSP00000384202:G131V;ENSP00000348551:G131V;ENSP00000380513:G131V;ENSP00000400281:G131V;ENSP00000402808:G131V	.|ENSP00000348551:G131V	D|G	-|-	1|2	0|0	NCOR2|NCOR2	123534114|123534114	0.000000|0.000000	0.05858|0.05858	0.030000|0.030000	0.17652|0.17652	0.037000|0.037000	0.13140|0.13140	0.033000|0.033000	0.13754|0.13754	-0.171000|-0.171000	0.10797|0.10797	0.455000|0.455000	0.32223|0.32223	GAT|GGA		0.647	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		12	5	1	0	2.31682e-05	1	2.46576e-05	12	5				
SGSH	6448	broad.mit.edu	37	17	78196561	78196561	+	5'Flank	SNP	C	C	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:78196561C>G	ENST00000326317.6	-	0	0				SLC26A11_ENST00000411502.3_Missense_Mutation_p.F114L|SLC26A11_ENST00000361193.3_Missense_Mutation_p.F114L|SLC26A11_ENST00000546047.2_Missense_Mutation_p.F114L|SLC26A11_ENST00000572725.1_Missense_Mutation_p.F114L|SLC26A11_ENST00000571602.1_3'UTR|SGSH_ENST00000570923.1_5'Flank|SGSH_ENST00000534910.1_5'Flank|SGSH_ENST00000572208.1_5'Flank	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.F114L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGTCTCCTTCTACACCTTCC	0.607																																						ENST00000361193.3																			1	Substitution - Missense(1)	p.F114L(1)	kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(340-342)ttC>ttG		solute carrier family 26 (anion exchanger), member 11							198.0	167.0	177.0					17																	78196561		2203	4300	6503	SO:0001631	upstream_gene_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78196561C>G	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78196561C>G	Exception_encountered					SLC26A11_ENST00000546047.2_Missense_Mutation_p.F114L|SLC26A11_ENST00000572725.1_Missense_Mutation_p.F114L|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000411502.3_Missense_Mutation_p.F114L	p.F114L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		4	622	+	all_neural(118;0.0538)		114					A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.342C>G	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	c	9.829	1.187878	0.21954	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92595	-3.07;-3.07;-3.07	4.69	3.7	0.42460	.	0.412562	0.27976	N	0.017092	D	0.85852	0.5793	L	0.29908	0.895	0.29337	N	0.86629	B	0.25563	0.129	B	0.30251	0.113	T	0.77851	-0.2434	10	0.33141	T	0.24	-10.969	8.7225	0.34449	0.2997:0.5547:0.1456:0.0	.	114	Q86WA9	S2611_HUMAN	L	114	ENSP00000403998:F114L;ENSP00000440724:F114L;ENSP00000355384:F114L	ENSP00000355384:F114L	F	+	3	2	SLC26A11	75811156	0.982000	0.34865	1.000000	0.80357	0.987000	0.75469	0.180000	0.16860	0.962000	0.38057	0.455000	0.32223	TTC		0.607	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		176	156	0	0	0	1	0	176	156				
ACOX2	8309	broad.mit.edu	37	3	58520806	58520806	+	Silent	SNP	A	A	G	rs140431503		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:58520806A>G	ENST00000302819.5	-	2	319	c.28T>C	c.(28-30)Ttg>Ctg	p.L10L	ACOX2_ENST00000459701.2_Silent_p.L10L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	10					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GTATCCCCCAATGACACTCGG	0.567													A|||	1	0.000199681	0.0	0.0	5008	,	,		21917	0.0		0.001	False		,,,				2504	0.0					ENST00000302819.5																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(28-30)Ttg>Ctg		acyl-CoA oxidase 2, branched chain		A		2,4404	4.2+/-10.8	0,2,2201	249.0	223.0	231.0		28	-8.0	0.0	3	dbSNP_134	231	15,8585	10.5+/-38.8	0,15,4285	no	coding-synonymous	ACOX2	NM_003500.3		0,17,6486	GG,GA,AA		0.1744,0.0454,0.1307		10/682	58520806	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58520806A>G	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.28T>C	3.37:g.58520806A>G						ACOX2_ENST00000459701.2_Silent_p.L10L	p.L10L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	2	319	-			10					A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	c.28T>C	CCDS33775.1																																																																																				0.567	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1			51	520	0	0	0	1	0	51	520				
TBX18	9096	broad.mit.edu	37	6	85447027	85447027	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr6:85447027G>T	ENST00000369663.5	-	8	1537	c.1200C>A	c.(1198-1200)ttC>ttA	p.F400L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	400					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.F400L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCCCCAGATGGAAGGCAGGAG	0.582																																						ENST00000369663.5																			1	Substitution - Missense(1)	p.F400L(1)	kidney(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1198-1200)ttC>ttA		T-box 18							72.0	74.0	74.0					6																	85447027		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85447027G>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1200C>A	6.37:g.85447027G>T	ENSP00000358677:p.Phe400Leu					TBX18_ENST00000606784.1_Intron	p.F400L	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1537	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	400					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1200C>A	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681904	0.68042	.	.	ENSG00000112837	ENST00000369663	D	0.87887	-2.31	5.18	3.4	0.38934	.	0.414703	0.30752	N	0.008948	D	0.82879	0.5133	L	0.36672	1.1	0.52099	D	0.999947	D	0.76494	0.999	D	0.75484	0.986	T	0.79313	-0.1855	10	0.19590	T	0.45	.	9.696	0.40158	0.2253:0.0:0.7747:0.0	.	400	O95935	TBX18_HUMAN	L	400	ENSP00000358677:F400L	ENSP00000358677:F400L	F	-	3	2	TBX18	85503746	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.889000	0.48601	0.576000	0.29452	0.585000	0.79938	TTC		0.582	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		10	96	1	0	1.76689e-08	1	1.99445e-08	10	96				
PSG6	5675	broad.mit.edu	37	19	43414833	43414833	+	Missense_Mutation	SNP	T	T	C	rs147725300	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:43414833T>C	ENST00000292125.2	-	3	649	c.605A>G	c.(604-606)tAt>tGt	p.Y202C	PSG6_ENST00000187910.2_Missense_Mutation_p.Y202C|PSG6_ENST00000402603.4_Missense_Mutation_p.Y202C	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	202	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACCAAATAGATAGAGGGTCCT	0.507																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(604-606)tAt>tGt		pregnancy specific beta-1-glycoprotein 6		A	CYS/TYR,CYS/TYR	1,4403		0,1,2201	188.0	195.0	193.0		605,605	-3.2	0.0	19	dbSNP_134	193	14,8582		0,14,4284	no	missense,missense	PSG6	NM_001031850.2,NM_002782.3	194,194	0,15,6485	CC,CT,TT		0.1629,0.0227,0.1154	,	202/425,202/436	43414833	15,12985	2202	4298	6500	SO:0001583	missense	5675							g.chr19:43414833T>C		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.605A>G	19.37:g.43414833T>C	ENSP00000292125:p.Tyr202Cys					PSG6_ENST00000402603.4_Missense_Mutation_p.Y202C|PSG6_ENST00000292125.2_Missense_Mutation_p.Y202C	p.Y202C	NM_001031850.3	NP_001027020.1					3	670	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.605A>G	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	12.07	1.828114	0.32329	2.27E-4	0.001629	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.13778	2.56;2.56;2.56	1.62	-3.24	0.05094	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13072	0.0317	L	0.32530	0.975	0.09310	N	1	P;P;P	0.48911	0.664;0.623;0.917	P;P;P	0.52627	0.544;0.579;0.704	T	0.05484	-1.0882	9	0.40728	T	0.16	.	3.2029	0.06656	0.2733:0.0:0.5178:0.2089	.	202;202;202	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	C	202	ENSP00000187910:Y202C;ENSP00000385736:Y202C;ENSP00000292125:Y202C	ENSP00000187910:Y202C	Y	-	2	0	PSG6	48106673	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	-0.545000	0.06069	-2.550000	0.00480	-3.467000	0.00035	TAT		0.507	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		35	436	0	0	0	1	0	35	436				
SLC1A4	6509	broad.mit.edu	37	2	65237735	65237735	+	Missense_Mutation	SNP	C	C	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:65237735C>G	ENST00000234256.3	+	4	881	c.638C>G	c.(637-639)cCc>cGc	p.P213R	SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	213					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CTGCAGATCCCCATAGGCACT	0.448																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(637-639)cCc>cGc		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						162.0	154.0	157.0					2																	65237735		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65237735C>G		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.638C>G	2.37:g.65237735C>G	ENSP00000234256:p.Pro213Arg					SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_5'UTR	p.P213R	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			4	881	+			213					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.638C>G	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816819	0.50633	.	.	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.53857	0.6	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	N	0.20766	0.605	0.80722	D	1	B;B	0.17667	0.01;0.023	B;B	0.24269	0.021;0.052	T	0.18618	-1.0331	10	0.23891	T	0.37	-29.4237	20.275	0.98485	0.0:1.0:0.0:0.0	.	213;213	P43007;B2R7N6	SATT_HUMAN;.	R	133;213	ENSP00000234256:P213R	ENSP00000234256:P213R	P	+	2	0	SLC1A4	65091239	1.000000	0.71417	0.979000	0.43373	0.391000	0.30476	7.818000	0.86416	2.800000	0.96347	0.455000	0.32223	CCC		0.448	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		19	267	0	0	0	1	0	19	267				
KIF3B	9371	broad.mit.edu	37	20	30918079	30918079	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr20:30918079G>A	ENST00000375712.3	+	8	2271	c.2104G>A	c.(2104-2106)Gca>Aca	p.A702T	KIF3B_ENST00000418717.2_Missense_Mutation_p.A328T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	702	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.A702T(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACAGGTGGATGCATCATCATT	0.493																																						ENST00000375712.3																			1	Substitution - Missense(1)	p.A702T(1)	kidney(1)	NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2104-2106)Gca>Aca		kinesin family member 3B							106.0	104.0	105.0					20																	30918079		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30918079G>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.2104G>A	20.37:g.30918079G>A	ENSP00000364864:p.Ala702Thr					KIF3B_ENST00000418717.2_Missense_Mutation_p.A328T	p.A702T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		8	2271	+			702			Globular.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.2104G>A	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816458	0.70912	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.74632	-0.86;0.43	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	M	0.72118	2.19	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.956	T	0.81632	-0.0845	10	0.24483	T	0.36	.	18.0393	0.89314	0.0:0.0:1.0:0.0	.	328;702	B4DSR5;O15066	.;KIF3B_HUMAN	T	702;328	ENSP00000364864:A702T;ENSP00000406287:A328T	ENSP00000364864:A702T	A	+	1	0	KIF3B	30381740	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.100000	0.94213	2.559000	0.86315	0.655000	0.94253	GCA		0.493	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		70	68	0	0	0	1	0	70	68				
CSMD3	114788	broad.mit.edu	37	8	114448936	114448936	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr8:114448936C>A	ENST00000297405.5	-	1	392	c.148G>T	c.(148-150)Gtc>Ttc	p.V50F	CSMD3_ENST00000455883.2_Missense_Mutation_p.V50F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V50F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V50F(1)|p.V50L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATAAAAAGACGAGGTTCCAA	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Missense(2)	p.V50F(1)|p.V50L(1)	lung(1)|kidney(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(148-150)Gtc>Ttc		CUB and Sushi multiple domains 3							198.0	203.0	201.0					8																	114448936		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114448936C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.148G>T	8.37:g.114448936C>A	ENSP00000297405:p.Val50Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.V50F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V50F	p.V50F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			1	392	-			50					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.148G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447243	0.25987	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.26810	2.06;1.71;2.07	5.82	5.82	0.92795	.	0.261231	0.20388	N	0.093301	T	0.22589	0.0545	N	0.08118	0	0.31669	N	0.644636	B;D;D;B	0.58620	0.399;0.96;0.983;0.278	B;P;P;B	0.58331	0.276;0.551;0.837;0.142	T	0.06972	-1.0797	10	0.19590	T	0.45	.	9.8962	0.41320	0.0:0.7853:0.1401:0.0746	.	50;50;50;50	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	F	50	ENSP00000297405:V50F;ENSP00000412263:V50F;ENSP00000343124:V50F	ENSP00000297405:V50F	V	-	1	0	CSMD3	114518112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.231000	0.43009	2.734000	0.93682	0.655000	0.94253	GTC		0.507	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		110	98	1	0	3.25107e-29	1	4.00339e-29	110	98				
ZNF876P	642280	broad.mit.edu	37	4	206531	206531	+	RNA	SNP	C	C	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr4:206531C>G	ENST00000356347.3	+	0	133					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTGGATGATTCGTAGCTAAGA	0.632																																						ENST00000356347.3																			0																																																			642280							g.chr4:206531C>G	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.206531C>G								NR_027481.1						0	133	+									RNA	SNP	ENST00000356347.3	37																																																																																						0.632	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		8	28	0	0	0	1	0	8	28				
DYNC1H1	1778	broad.mit.edu	37	14	102466737	102466737	+	Splice_Site	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr14:102466737G>A	ENST00000360184.4	+	18	4238		c.e18+1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCTCGAAAGGTATATCATGA	0.403																																						ENST00000360184.4																			1	Unknown(1)	p.?(1)	kidney(1)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.e18+1		dynein, cytoplasmic 1, heavy chain 1							96.0	96.0	96.0					14																	102466737		2203	4300	6503	SO:0001630	splice_region_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102466737G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4074+1G>A	14.37:g.102466737G>A								NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			18	4238	+								B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37		CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098751	0.94197	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0769	0.97748	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101536490	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.805000	0.99149	2.820000	0.97059	0.650000	0.86243	.		0.403	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Intron	21	38	0	0	0	1	0	21	38				
MSL3P1	151507	broad.mit.edu	37	2	234775512	234775512	+	RNA	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:234775512G>T	ENST00000438684.1	-	0	602					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CTTGTTCATAGGGATAGAGTA	0.388																																						ENST00000438684.1																			0																				159.0	124.0	135.0					2																	234775512		692	1591	2283			151507							g.chr2:234775512G>T	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775512G>T								NR_024322.1						0	602	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.388	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		5	50	1	0	0.217242	1	0.220198	5	50				
ZMYM4	9202	broad.mit.edu	37	1	35836039	35836039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:35836039C>A	ENST00000314607.6	+	7	1072	c.992C>A	c.(991-993)tCa>tAa	p.S331*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.S331*|ZMYM4_ENST00000482131.1_3'UTR	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	331					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S331*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGCTTCCTTCAGTTCCAGCC	0.398																																						ENST00000314607.6																			1	Substitution - Nonsense(1)	p.S331*(1)	kidney(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(991-993)tCa>tAa		zinc finger, MYM-type 4							45.0	49.0	47.0					1																	35836039		2203	4300	6503	SO:0001587	stop_gained	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35836039C>A	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.992C>A	1.37:g.35836039C>A	ENSP00000322915:p.Ser331*					ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.S331*|ZMYM4_ENST00000482131.1_3'UTR	p.S331*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			7	1072	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	331					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Nonsense_Mutation	SNP	ENST00000314607.6	37	c.992C>A	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.108607|4.108607	0.77096|0.77096	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000457946|ENST00000314607;ENST00000373297	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.374095	.|0.24793	.|N	.|0.035548	T|.	0.67439|.	0.2893|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59402|.	-0.7461|.	3|.	.|0.17832	.|T	.|0.49	-3.9145|-3.9145	19.4691|19.4691	0.94956|0.94956	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	79|331	.|.	.|ENSP00000322915:S331X	F|S	+|+	3|2	2|0	ZMYM4|ZMYM4	35608626|35608626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.993000|5.993000	0.70616|0.70616	2.613000|2.613000	0.88420|0.88420	0.591000|0.591000	0.81541|0.81541	TTC|TCA		0.398	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		20	38	1	0	8.00594e-06	1	8.83619e-06	20	38				
KRT4	3851	broad.mit.edu	37	12	53207418	53207418	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:53207418T>C	ENST00000551956.1	-	1	917	c.425A>G	c.(424-426)aAg>aGg	p.K142R	KRT4_ENST00000458244.2_Missense_Mutation_p.K122R|KRT4_ENST00000293774.4_Missense_Mutation_p.K216R			P19013	K2C4_HUMAN	keratin 4	156	Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.K216R(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTTGAGGAGCTTGATCTGTTC	0.562																																					Pancreas(190;284 2995 41444 45903)	ENST00000551956.1																			1	Substitution - Missense(1)	p.K216R(1)	kidney(1)	endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(424-426)aAg>aGg		keratin 4							169.0	176.0	174.0					12																	53207418		2203	4300	6503	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53207418T>C		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.425A>G	12.37:g.53207418T>C	ENSP00000448220:p.Lys142Arg					KRT4_ENST00000293774.4_Missense_Mutation_p.K216R|KRT4_ENST00000458244.2_Missense_Mutation_p.K122R	p.K142R			B4DRS2	B4DRS2_HUMAN			1	917	-			142					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.425A>G	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	T	23.0	4.363082	0.82353	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.88896	-2.44;-2.44;-2.44	4.88	4.88	0.63580	Filament (1);	0.000000	0.48767	D	0.000166	D	0.95564	0.8558	M	0.92507	3.315	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.96648	0.9479	10	0.87932	D	0	.	15.193	0.73060	0.0:0.0:0.0:1.0	.	156	P19013	K2C4_HUMAN	R	142;216;122	ENSP00000448220:K142R;ENSP00000293774:K216R;ENSP00000387904:K122R	ENSP00000293774:K216R	K	-	2	0	KRT4	51493685	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.259000	0.72494	2.130000	0.65690	0.477000	0.44152	AAG		0.562	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		147	290	0	0	0	1	0	147	290				
GRK4	2868	broad.mit.edu	37	4	3037187	3037187	+	Silent	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr4:3037187G>T	ENST00000398052.4	+	13	1687	c.1344G>T	c.(1342-1344)gtG>gtT	p.V448V	GRK4_ENST00000398051.4_Silent_p.V416V|GRK4_ENST00000345167.6_Silent_p.V416V|GRK4_ENST00000504933.1_Silent_p.V448V|GRK4_ENST00000509545.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	448	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCACCCCGTGTTCAAGGACA	0.587																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(1342-1344)gtG>gtT		G protein-coupled receptor kinase 4							98.0	87.0	91.0					4																	3037187		2203	4300	6503	SO:0001819	synonymous_variant	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3037187G>T		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1344G>T	4.37:g.3037187G>T						GRK4_ENST00000504933.1_Silent_p.V448V|GRK4_ENST00000509545.1_Intron|GRK4_ENST00000398051.4_Silent_p.V416V|GRK4_ENST00000345167.6_Silent_p.V416V	p.V448V	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	13	1687	+			448			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Silent	SNP	ENST00000398052.4	37	c.1344G>T	CCDS33946.1																																																																																				0.587	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		99	454	1	0	1.54984e-59	1	1.95701e-59	99	454				
MIOS	54468	broad.mit.edu	37	7	7636022	7636022	+	Silent	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr7:7636022C>T	ENST00000340080.4	+	11	2752	c.2331C>T	c.(2329-2331)ggC>ggT	p.G777G	MIOS_ENST00000405785.1_Silent_p.G777G	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	777						lysosomal membrane (GO:0005765)		p.G777G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTGTCCTGGCTGTCGAAAAC	0.433																																						ENST00000340080.4																			1	Substitution - coding silent(1)	p.G777G(1)	kidney(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2329-2331)ggC>ggT		missing oocyte, meiosis regulator, homolog (Drosophila)							188.0	181.0	183.0					7																	7636022		1979	4152	6131	SO:0001819	synonymous_variant	54468							g.chr7:7636022C>T		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2331C>T	7.37:g.7636022C>T						MIOS_ENST00000405785.1_Silent_p.G777G	p.G777G	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			11	2752	+			777					B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.2331C>T	CCDS43554.1																																																																																				0.433	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		57	172	0	0	0	1	0	57	172				
DLGAP5	9787	broad.mit.edu	37	14	55625310	55625310	+	Silent	SNP	T	T	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr14:55625310T>C	ENST00000247191.2	-	14	2019	c.1803A>G	c.(1801-1803)ccA>ccG	p.P601P	DLGAP5_ENST00000395425.2_Silent_p.P601P	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	601					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.P601P(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAACTTCCTTTGGTATCACAG	0.348																																						ENST00000247191.2																			1	Substitution - coding silent(1)	p.P601P(1)	kidney(1)	biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1801-1803)ccA>ccG		discs, large (Drosophila) homolog-associated protein 5							114.0	106.0	108.0					14																	55625310		2202	4300	6502	SO:0001819	synonymous_variant	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55625310T>C	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1803A>G	14.37:g.55625310T>C						DLGAP5_ENST00000395425.2_Silent_p.P601P	p.P601P	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			14	2019	-			601					A8MTM6|B4DRM8|Q86T11|Q8NG58	Silent	SNP	ENST00000247191.2	37	c.1803A>G	CCDS9723.1																																																																																				0.348	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		16	76	0	0	0	1	0	16	76				
HSD17B7P2	158160	broad.mit.edu	37	10	38658896	38658896	+	RNA	SNP	A	A	G	rs147623826	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr10:38658896A>G	ENST00000494540.1	+	0	740					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		CTTTTTTGCAAATGCATTCAC	0.299													A|||	131	0.0261581	0.0015	0.0504	5008	,	,		17002	0.0		0.0805	False		,,,				2504	0.0133					ENST00000494540.1																			0																																																			158160							g.chr10:38658896A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38658896A>G								NR_003086.1						0	740	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.299	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	78	0	0	0	1	0	4	78				
PYGB	5834	broad.mit.edu	37	20	25261605	25261605	+	Silent	SNP	C	C	T	rs2228978	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr20:25261605C>T	ENST00000216962.4	+	11	1370	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	420					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CGCTGTTTCCCGGCGATGTGG	0.642													C|||	25	0.00499201	0.0113	0.0043	5008	,	,		18324	0.0		0.006	False		,,,				2504	0.001					ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1258-1260)ccC>ccT		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)	C		90,4316	74.1+/-112.3	2,86,2115	147.0	129.0	135.0		1260	-6.7	0.9	20	dbSNP_98	135	25,8575	16.6+/-54.9	0,25,4275	no	coding-synonymous	PYGB	NM_002862.3		2,111,6390	TT,TC,CC		0.2907,2.0427,0.8842		420/844	25261605	115,12891	2203	4300	6503	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25261605C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1260C>T	20.37:g.25261605C>T							p.P420P	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			11	1370	+			420					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.1260C>T	CCDS13171.1																																																																																				0.642	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		7	106	0	0	0	1	0	7	106				
NR1H3	10062	broad.mit.edu	37	11	47280724	47280724	+	De_novo_Start_OutOfFrame	SNP	C	C	A	rs200557846	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:47280724C>A	ENST00000467728.1	+	0	1195				NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000481889.2_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000441012.2_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3						apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CTGGGTCCTTCCTGCAGGACA	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		19215	0.0		0.002	False		,,,				2504	0.0					ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20								nuclear receptor subfamily 1, group H, member 3		C	,,	2,4400	4.2+/-10.8	0,2,2199	130.0	116.0	121.0		,,	4.7	1.0	11		121	17,8579	12.6+/-44.7	0,17,4281	no	intron,intron,intron	NR1H3	NM_001130101.1,NM_001130102.1,NM_005693.2	,,	0,19,6480	AA,AC,CC		0.1978,0.0454,0.1462	,,	,,	47280724	19,12979	2201	4298	6499			10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47280724C>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.-44C>A	11.37:g.47280724C>A						NR1H3_ENST00000481889.2_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000395397.3_Intron				Q13133	NR1H3_HUMAN			0	1195	+								A8K3J9|D3DQR1|Q8IW13|Q96H87	Translation_Start_Site	SNP	ENST00000467728.1	37		CCDS7929.1																																																																																				0.517	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			14	265	1	0	2.23348e-06	1	2.4835e-06	14	265				
PRR23A	729627	broad.mit.edu	37	3	138724757	138724757	+	Silent	SNP	C	C	G	rs11924188	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:138724757C>G	ENST00000383163.2	-	1	353	c.354G>C	c.(352-354)tcG>tcC	p.S118S	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	118										endometrium(3)|kidney(1)|lung(7)	11						GCCCAGCAGACGAGTCGTCCT	0.617													C|||	3066	0.61222	0.4349	0.6066	5008	,	,		16100	0.6141		0.7594	False		,,,				2504	0.7025					ENST00000383163.2																			0				endometrium(3)|kidney(1)|lung(7)	11						c.(352-354)tcG>tcC		proline rich 23A		C		701,683		183,335,174	36.0	35.0	35.0		354	-2.9	0.0	3	dbSNP_120	35	2443,739		942,559,90	no	coding-synonymous	PRR23A	NM_001134659.1		1125,894,264	GG,GC,CC		23.2244,49.3497,31.1432		118/267	138724757	3144,1422	692	1591	2283	SO:0001819	synonymous_variant	729627							g.chr3:138724757C>G		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.354G>C	3.37:g.138724757C>G						MRPS22_ENST00000495075.1_5'UTR	p.S118S	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN			1	353	-			118						Silent	SNP	ENST00000383163.2	37	c.354G>C	CCDS46923.1																																																																																				0.617	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		14	90	0	0	0	1	0	14	90				
FAT3	120114	broad.mit.edu	37	11	92532807	92532807	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:92532807G>T	ENST00000298047.6	+	9	6645	c.6628G>T	c.(6628-6630)Gcc>Tcc	p.A2210S	FAT3_ENST00000409404.2_Missense_Mutation_p.A2210S|FAT3_ENST00000525166.1_Missense_Mutation_p.A2060S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2210	Cadherin 20. {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)				AAGCATCAATGCCACCAGTCC	0.413										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.(6628-6630)Gcc>Tcc		FAT atypical cadherin 3							49.0	48.0	49.0					11																	92532807		1960	4176	6136	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532807G>T	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.6628G>T	11.37:g.92532807G>T	ENSP00000298047:p.Ala2210Ser	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.A2060S|FAT3_ENST00000409404.2_Missense_Mutation_p.A2210S	p.A2210S			Q8TDW7	FAT3_HUMAN			9	6645	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2210			Cadherin 20.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6628G>T		.	.	.	.	.	.	.	.	.	.	G	18.29	3.592516	0.66219	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.61510	0.1;0.1;0.1	6.17	6.17	0.99709	.	.	.	.	.	D	0.84741	0.5539	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87687	0.2551	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2210	Q8TDW7-3	.	S	2210;2210;2060	ENSP00000298047:A2210S;ENSP00000387040:A2210S;ENSP00000432586:A2060S	ENSP00000298047:A2210S	A	+	1	0	FAT3	92172455	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.849000	0.86908	2.941000	0.99782	0.655000	0.94253	GCC		0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	111	1	0	1.12685e-05	1	1.21667e-05	7	111				
KRT76	51350	broad.mit.edu	37	12	53162498	53162498	+	Silent	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:53162498C>T	ENST00000332411.2	-	9	1969	c.1916G>A	c.(1915-1917)tGa>tAa	p.*639*		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	0					cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.*639*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AACAGTAGATCACTTGGTGGA	0.517																																						ENST00000332411.2																			1	Substitution - coding silent(1)	p.*639*(1)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1915-1917)tGa>tAa		keratin 76							170.0	171.0	171.0					12																	53162498		2203	4300	6503	SO:0001819	synonymous_variant	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53162498C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1916G>A	12.37:g.53162498C>T							p.*639*	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			9	1969	-			0					B4DRR3|Q7Z795	Silent	SNP	ENST00000332411.2	37	c.1916G>A	CCDS8838.1																																																																																				0.517	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		50	261	0	0	0	1	0	50	261				
HOMER1	9456	broad.mit.edu	37	5	78697880	78697880	+	Splice_Site	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr5:78697880T>A	ENST00000334082.6	-	6	1970		c.e6-2		HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Splice_Site|HOMER1_ENST00000282260.6_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)						behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATTGCTGAACTAAAATAAAAC	0.408																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.e6-2		homer homolog 1 (Drosophila)							44.0	41.0	42.0					5																	78697880		1853	4089	5942	SO:0001630	splice_region_variant	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78697880T>A	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.528-2A>T	5.37:g.78697880T>A						HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000535690.1_Splice_Site		NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	6	1970	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)						B2R688|O96003|Q86YM5	Splice_Site	SNP	ENST00000334082.6	37		CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020657	0.54576	.	.	ENSG00000152413	ENST00000334082;ENST00000535690	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.571	0.76337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HOMER1	78733636	1.000000	0.71417	0.988000	0.46212	0.710000	0.40934	4.691000	0.61738	2.138000	0.66242	0.459000	0.35465	.		0.408	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272	Intron	3	22	0	0	0	1	0	3	22				
POLE	5426	broad.mit.edu	37	12	133219900	133219900	+	Missense_Mutation	SNP	G	G	C	rs536917758		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:133219900G>C	ENST00000320574.5	-	35	4504	c.4461C>G	c.(4459-4461)atC>atG	p.I1487M	POLE_ENST00000535270.1_Missense_Mutation_p.I1460M|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1487					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.I1487M(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGTACAGGTAGATATGGCGGA	0.592								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			2	Substitution - Missense(2)	p.I1487M(2)	kidney(2)	NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4459-4461)atC>atG	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							143.0	129.0	134.0					12																	133219900		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133219900G>C		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4461C>G	12.37:g.133219900G>C	ENSP00000322570:p.Ile1487Met					POLE_ENST00000535270.1_Missense_Mutation_p.I1460M	p.I1487M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	35	4504	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1487					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4461C>G	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593682	0.28445	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.03181	4.02;4.02;4.02	5.96	5.96	0.96718	.	0.222194	0.53938	D	0.000043	T	0.11793	0.0287	M	0.81239	2.535	0.53005	D	0.999964	B;B	0.26512	0.112;0.151	B;B	0.33620	0.167;0.08	T	0.01762	-1.1279	10	0.54805	T	0.06	0.1224	20.3928	0.98949	0.0:0.0:1.0:0.0	.	1460;1487	F5H1D6;Q07864	.;DPOE1_HUMAN	M	1487;1498;1460	ENSP00000322570:I1487M;ENSP00000406383:I1498M;ENSP00000445753:I1460M	ENSP00000322570:I1487M	I	-	3	3	POLE	131729973	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	3.493000	0.53266	2.813000	0.96785	0.655000	0.94253	ATC		0.592	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		71	59	0	0	0	1	0	71	59				
SLC25A33	84275	broad.mit.edu	37	1	9613721	9613721	+	Silent	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:9613721C>T	ENST00000302692.6	+	2	304	c.94C>T	c.(94-96)Cta>Tta	p.L32L		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	32					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CACTTGTCCACTAGAAGTCAT	0.458																																						ENST00000302692.6																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9						c.(94-96)Cta>Tta		solute carrier family 25 (pyrimidine nucleotide carrier), member 33							128.0	124.0	125.0					1																	9613721		2203	4300	6503	SO:0001819	synonymous_variant	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9613721C>T	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.94C>T	1.37:g.9613721C>T							p.L32L	NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	2	304	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	32						Silent	SNP	ENST00000302692.6	37	c.94C>T	CCDS103.1																																																																																				0.458	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		87	583	0	0	0	1	0	87	583				
USP26	83844	broad.mit.edu	37	X	132160273	132160273	+	Missense_Mutation	SNP	G	G	A	rs145695346	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chrX:132160273G>A	ENST00000511190.1	-	6	2445	c.1976C>T	c.(1975-1977)aCg>aTg	p.T659M	USP26_ENST00000370832.1_Missense_Mutation_p.T659M|USP26_ENST00000406273.1_Missense_Mutation_p.T659M	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	659	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTCCAGATACGTCATTAAGTG	0.418													G|||	2	0.000529801	0.0	0.0029	3775	,	,		12222	0.0		0.0	False		,,,				2504	0.0				NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	GRCh37	CM056717	USP26	M	rs145695346	c.(1975-1977)aCg>aTg		ubiquitin specific peptidase 26		G	MET/THR	0,3835		0,0,0,1632,571	104.0	93.0	97.0		1976	-7.1	0.0	X	dbSNP_134	97	16,6712		0,12,4,2416,1868	yes	missense	USP26	NM_031907.1	81	0,12,4,4048,2439	AA,AG,A,GG,G		0.2378,0.0,0.1515	benign	659/914	132160273	16,10547	2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160273G>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1976C>T	X.37:g.132160273G>A	ENSP00000423390:p.Thr659Met					USP26_ENST00000406273.1_Missense_Mutation_p.T659M|USP26_ENST00000370832.1_Missense_Mutation_p.T659M	p.T659M	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	2445	-	Acute lymphoblastic leukemia(192;0.000127)		659					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1976C>T	CCDS14635.1	1	6.027727546714888E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	3.469	-0.108305	0.06924	0.0	0.002378	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.52295	0.67;0.67;0.67	3.53	-7.06	0.01568	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.09992	0.0245	N	0.00142	-2.005	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.40683	-0.9550	9	0.45353	T	0.12	-8.0E-4	4.0615	0.09841	0.1324:0.3781:0.3744:0.1151	.	659	Q9BXU7	UBP26_HUMAN	M	659	ENSP00000359869:T659M;ENSP00000423390:T659M;ENSP00000384360:T659M	ENSP00000359869:T659M	T	-	2	0	USP26	131987939	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.065000	0.03458	-2.494000	0.00514	-0.380000	0.06706	ACG		0.418	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		6	127	0	0	0	1	0	6	127				
CASP14	23581	broad.mit.edu	37	19	15164766	15164766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:15164766G>T	ENST00000427043.3	+	4	708	c.400G>T	c.(400-402)Gga>Tga	p.G134*	CASP14_ENST00000221740.1_Nonsense_Mutation_p.G134*|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	134					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.G134*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GGCCTGTCGAGGAGGTGGGGA	0.522																																						ENST00000427043.3																			1	Substitution - Nonsense(1)	p.G134*(1)	kidney(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						c.(400-402)Gga>Tga		caspase 14, apoptosis-related cysteine peptidase							55.0	55.0	55.0					19																	15164766		2203	4300	6503	SO:0001587	stop_gained	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15164766G>T		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.400G>T	19.37:g.15164766G>T	ENSP00000393417:p.Gly134*					CASP14_ENST00000221740.1_Nonsense_Mutation_p.G134*	p.G134*	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN			4	708	+			134					O95823|Q3SYC9	Nonsense_Mutation	SNP	ENST00000427043.3	37	c.400G>T	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	g	38	6.737728	0.97801	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	.	.	.	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0518	0.64742	0.0:0.0:1.0:0.0	.	.	.	.	X	134	.	ENSP00000221740:G134X	G	+	1	0	CASP14	15025766	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.140000	0.64807	2.383000	0.81215	0.306000	0.20318	GGA		0.522	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		64	141	1	0	2.94687e-45	1	3.68978e-45	64	141				
RSPO1	284654	broad.mit.edu	37	1	38079565	38079565	+	Splice_Site	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:38079565C>A	ENST00000401069.1	-	6	1149		c.e6-1		RSPO1_ENST00000401068.1_Splice_Site|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000373059.1_Splice_Site|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000356545.2_Splice_Site	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1						canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCACATTGCGCTGGCAGGAAG	0.607																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.e7-1		R-spondin 1							45.0	47.0	47.0					1																	38079565		1960	4145	6105	SO:0001630	splice_region_variant	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38079565C>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.437-1G>T	1.37:g.38079565C>A						RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000373059.1_Splice_Site|RSPO1_ENST00000401068.1_Splice_Site|RSPO1_ENST00000401069.1_Splice_Site|RSPO1_ENST00000401070.1_Intron		NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			7	1224	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Splice_Site	SNP	ENST00000401069.1	37		CCDS41304.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170943	0.78452	.	.	ENSG00000169218	ENST00000373059;ENST00000356545;ENST00000401069;ENST00000401068	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.254	0.93938	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RSPO1	37852152	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	3.986000	0.56937	2.538000	0.85594	0.655000	0.94253	.		0.607	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640	Intron	7	62	1	0	0.307466	1	0.309543	7	62				
PKHD1	5314	broad.mit.edu	37	6	51935825	51935825	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr6:51935825G>T	ENST00000371117.3	-	9	921	c.646C>A	c.(646-648)Cat>Aat	p.H216N	PKHD1_ENST00000340994.4_Missense_Mutation_p.H216N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	216	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.H216N(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTTCCACATGGCACTGCAGA	0.413																																						ENST00000371117.3																			2	Substitution - Missense(2)	p.H216N(2)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(646-648)Cat>Aat		polycystic kidney and hepatic disease 1 (autosomal recessive)							99.0	95.0	96.0					6																	51935825		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51935825G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.646C>A	6.37:g.51935825G>T	ENSP00000360158:p.His216Asn					PKHD1_ENST00000340994.4_Missense_Mutation_p.H216N	p.H216N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			9	921	-	Lung NSC(77;0.0605)		216			IPT/TIG 2.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.646C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	9.368	1.069877	0.20147	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86694	-1.95;-2.16	5.18	5.18	0.71444	.	0.188802	0.36932	N	0.002337	T	0.63570	0.2522	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.53940	-0.8367	10	0.36615	T	0.2	.	16.0676	0.80897	0.0:0.0:1.0:0.0	.	216;216	P08F94-2;P08F94	.;PKHD1_HUMAN	N	216	ENSP00000360158:H216N;ENSP00000341097:H216N	ENSP00000341097:H216N	H	-	1	0	PKHD1	52043784	1.000000	0.71417	0.180000	0.23079	0.009000	0.06853	3.938000	0.56583	2.697000	0.92050	0.650000	0.86243	CAT		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		36	166	1	0	4.07013e-28	1	4.9709e-28	36	166				
RAET1G	353091	broad.mit.edu	37	6	150240312	150240312	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr6:150240312T>A	ENST00000367360.2	-	3	565	c.498A>T	c.(496-498)agA>agT	p.R166S	RAET1G_ENST00000479265.1_Missense_Mutation_p.R166S|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G									p.R166S(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CTTTCATCTTTCTGGCTCCAG	0.473																																						ENST00000367360.2																			1	Substitution - Missense(1)	p.R166S(1)	kidney(1)	NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(496-498)agA>agT		retinoic acid early transcript 1G							242.0	226.0	231.0					6																	150240312		2203	4300	6503	SO:0001583	missense	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240312T>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.498A>T	6.37:g.150240312T>A	ENSP00000356329:p.Arg166Ser					RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.1_ENST00000446954.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.R166S|RP11-244K5.1_ENST00000605899.1_RNA	p.R166S	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	3	565	-		Ovarian(120;0.0907)	166			MHC class I alpha-2 like.			Missense_Mutation	SNP	ENST00000367360.2	37	c.498A>T	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	T	6.796	0.515840	0.12944	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.59224	0.28;0.28	2.4	-2.07	0.07276	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.28366	0.0701	L	0.43152	1.355	0.09310	N	1	B	0.32425	0.371	B	0.40101	0.319	T	0.43988	-0.9357	9	0.59425	D	0.04	.	3.2898	0.06945	0.0:0.3173:0.3169:0.3658	.	166	Q6H3X3	RET1G_HUMAN	S	166	ENSP00000356329:R166S;ENSP00000417503:R166S	ENSP00000356329:R166S	R	-	3	2	RAET1G	150282005	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.065000	0.03458	-0.435000	0.07264	0.414000	0.27820	AGA		0.473	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			85	280	0	0	0	1	0	85	280				
SH3RF1	57630	broad.mit.edu	37	4	170077770	170077770	+	Missense_Mutation	SNP	C	C	G	rs144629121	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr4:170077770C>G	ENST00000284637.9	-	3	795	c.454G>C	c.(454-456)Gac>Cac	p.D152H	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	152	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		AATTTAAGGTCTCCAGGCTCT	0.373													C|||	9	0.00179712	0.0	0.0029	5008	,	,		19090	0.0		0.007	False		,,,				2504	0.0					ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(454-456)Gac>Cac		SH3 domain containing ring finger 1		C	HIS/ASP	2,4404	4.2+/-10.8	0,2,2201	123.0	129.0	127.0		454	5.8	1.0	4	dbSNP_134	127	37,8563	24.6+/-71.5	0,37,4263	yes	missense	SH3RF1	NM_020870.3	81	0,39,6464	GG,GC,CC		0.4302,0.0454,0.2999	probably-damaging	152/889	170077770	39,12967	2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170077770C>G	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.454G>C	4.37:g.170077770C>G	ENSP00000284637:p.Asp152His					SH3RF1_ENST00000508685.1_5'UTR	p.D152H	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	3	795	-		Prostate(90;0.00267)|Renal(120;0.0183)	152			SH3 1.		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.454G>C	CCDS34099.1	8	0.003663003663003663	0	0.0	2	0.0055248618784530384	0	0.0	6	0.0079155672823219	C	24.9	4.578396	0.86645	4.54E-4	0.004302	ENSG00000154447	ENST00000284637	T	0.47869	0.83	5.76	5.76	0.90799	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.65354	0.2683	M	0.79805	2.47	0.80722	D	1	D	0.61697	0.99	D	0.71184	0.972	T	0.69499	-0.5129	10	0.52906	T	0.07	-34.1621	20.3242	0.98691	0.0:1.0:0.0:0.0	.	152	Q7Z6J0	SH3R1_HUMAN	H	152	ENSP00000284637:D152H	ENSP00000284637:D152H	D	-	1	0	SH3RF1	170314345	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.445000	0.80570	2.882000	0.98803	0.655000	0.94253	GAC		0.373	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		12	96	0	0	0	1	0	12	96				
UTP18	51096	broad.mit.edu	37	17	49340732	49340732	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:49340732A>G	ENST00000225298.7	+	2	497	c.440A>G	c.(439-441)gAt>gGt	p.D147G		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	147					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D147G(1)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GATGAAGAAGATGAAGATGAG	0.358																																						ENST00000225298.7																			1	Substitution - Missense(1)	p.D147G(1)	kidney(1)	breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(439-441)gAt>gGt		UTP18 small subunit (SSU) processome component homolog (yeast)							103.0	104.0	104.0					17																	49340732		1869	4115	5984	SO:0001583	missense	51096				rRNA processing	nucleolus		g.chr17:49340732A>G	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.440A>G	17.37:g.49340732A>G	ENSP00000225298:p.Asp147Gly						p.D147G	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		2	497	+			147					Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	c.440A>G	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678889	0.68042	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.31769	1.48	4.63	4.63	0.57726	.	0.106946	0.64402	D	0.000008	T	0.57681	0.2070	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.65417	-0.6173	10	0.87932	D	0	-26.0225	12.9573	0.58434	1.0:0.0:0.0:0.0	.	147	Q9Y5J1	UTP18_HUMAN	G	147;123	ENSP00000225298:D147G	ENSP00000225298:D147G	D	+	2	0	UTP18	46695731	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.989000	0.63870	2.015000	0.59207	0.460000	0.39030	GAT		0.358	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		38	154	0	0	0	1	0	38	154				
RAB28	9364	broad.mit.edu	37	4	13378197	13378197	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr4:13378197A>T	ENST00000330852.5	-	6	759	c.545T>A	c.(544-546)tTa>tAa	p.L182*	RAB28_ENST00000288723.4_Nonsense_Mutation_p.L182*|RAB28_ENST00000338176.4_Nonsense_Mutation_p.L182*	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	182					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TGCTTTGTTTAATTTGATCCC	0.303																																						ENST00000288723.4																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						c.(544-546)tTa>tAa		RAB28, member RAS oncogene family							76.0	71.0	73.0					4																	13378197		2203	4299	6502	SO:0001587	stop_gained	9364				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr4:13378197A>T	X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"""RAB, member RAS oncogene"""	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.545T>A	4.37:g.13378197A>T	ENSP00000328551:p.Leu182*					RAB28_ENST00000330852.5_Nonsense_Mutation_p.L182*|RAB28_ENST00000338176.4_Nonsense_Mutation_p.L182*	p.L182*	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN			6	759	-			182					G8JLC5|Q8IYR8|Q8NI05	Nonsense_Mutation	SNP	ENST00000330852.5	37	c.545T>A	CCDS33961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	38|38	6.908514|6.908514	0.97928|0.97928	.|.	.|.	ENSG00000157869|ENSG00000157869	ENST00000330852;ENST00000288723;ENST00000338176|ENST00000504644	.|.	.|.	.|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.089559|.	0.47852|.	D|.	0.000202|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.17832|.	T|.	0.49|.	.|.	14.6028|14.6028	0.68453|0.68453	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|K	182|52	.|.	ENSP00000288723:L182X|.	L|X	-|-	2|1	0|0	RAB28|RAB28	12987295|12987295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.427000|8.427000	0.90275|0.90275	1.841000|1.841000	0.53522|0.53522	0.374000|0.374000	0.22700|0.22700	TTA|TAA		0.303	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979		4	56	0	0	0	1	0	4	56				
SAG	6295	broad.mit.edu	37	2	234255451	234255451	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:234255451A>T	ENST00000409110.1	+	16	1342		c.e16-1			NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)						cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GTTTTATTTTAGTTATCAGGA	0.388																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.e16-1		S-antigen; retina and pineal gland (arrestin)							83.0	78.0	80.0					2																	234255451		1869	4109	5978	SO:0001630	splice_region_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234255451A>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.1113-1A>T	2.37:g.234255451A>T								NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	16	1342	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)						A0FDN6|Q53SV3|Q99858	Splice_Site	SNP	ENST00000409110.1	37		CCDS46545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.01|19.01	3.743073|3.743073	0.69418|0.69418	.|.	.|.	ENSG00000130561|ENSG00000130561	ENST00000409110|ENST00000252857	.|.	.|.	.|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|73.258800	.|0.01383	.|U	.|0.012996	.|T	.|0.74015	.|0.3661	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56141	.|-0.8028	.|6	.|0.62326	.|D	.|0.03	.|.	13.0395|13.0395	0.58891|0.58891	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|C	-1|371	.|.	.|ENSP00000252857:S371C	.|S	+|+	.|1	.|0	SAG|SAG	233920190|233920190	1.000000|1.000000	0.71417|0.71417	0.596000|0.596000	0.28811|0.28811	0.591000|0.591000	0.36615|0.36615	5.283000|5.283000	0.65621|0.65621	1.971000|1.971000	0.57363|0.57363	0.533000|0.533000	0.62120|0.62120	.|AGT		0.388	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541	Intron	7	44	0	0	0	1	0	7	44				
DPYD	1806	broad.mit.edu	37	1	98165090	98165090	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:98165090A>T	ENST00000370192.3	-	6	597	c.497T>A	c.(496-498)aTg>aAg	p.M166K	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	166			M -> V (in dbSNP:rs2297595).		beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGGGATACTCATTGCTTTGAA	0.388																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(496-498)aTg>aAg		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						124.0	126.0	125.0					1																	98165090		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98165090A>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.497T>A	1.37:g.98165090A>T	ENSP00000359211:p.Met166Lys					DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	p.M166K	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	6	597	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	166		M -> V (in dbSNP:rs2297595).			A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.497T>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.160594	0.78226	.	.	ENSG00000188641	ENST00000370192	T	0.70399	-0.48	5.26	5.26	0.73747	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78899	-0.2022	10	0.51188	T	0.08	-23.1633	15.1667	0.72833	1.0:0.0:0.0:0.0	.	166	Q12882	DPYD_HUMAN	K	166	ENSP00000359211:M166K	ENSP00000359211:M166K	M	-	2	0	DPYD	97937678	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	8.920000	0.92779	2.002000	0.58637	0.477000	0.44152	ATG		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		8	101	0	0	0	1	0	8	101				
KCNC1	3746	broad.mit.edu	37	11	17793714	17793714	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:17793714T>C	ENST00000379472.3	+	2	1103	c.1073T>C	c.(1072-1074)aTc>aCc	p.I358T	KCNC1_ENST00000265969.6_Missense_Mutation_p.I358T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	358					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)	p.I358T(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GGCGTGCTGATCTTCGCCACC	0.612																																						ENST00000379472.3																			2	Substitution - Missense(2)	p.I358T(2)	kidney(2)	breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1072-1074)aTc>aCc		potassium voltage-gated channel, Shaw-related subfamily, member 1							49.0	46.0	47.0					11																	17793714		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793714T>C	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1073T>C	11.37:g.17793714T>C	ENSP00000368785:p.Ile358Thr					KCNC1_ENST00000265969.6_Missense_Mutation_p.I358T	p.I358T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	1103	+			358					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.1073T>C	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.409492	0.62399	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.98947	-5.26;-5.26	4.95	4.95	0.65309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.964;0.999	D	0.99895	1.1144	10	0.87932	D	0	.	14.6267	0.68626	0.0:0.0:0.0:1.0	.	358;358	Q3KNS8;P48547	.;KCNC1_HUMAN	T	358	ENSP00000265969:I358T;ENSP00000368785:I358T	ENSP00000265969:I358T	I	+	2	0	KCNC1	17750290	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.040000	0.89188	1.858000	0.53909	0.459000	0.35465	ATC		0.612	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		26	61	0	0	0	1	0	26	61				
ITGA9	3680	broad.mit.edu	37	3	37670844	37670844	+	Intron	SNP	T	T	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:37670844T>G	ENST00000264741.5	+	16	2095				ITGA9_ENST00000422441.1_Missense_Mutation_p.L619R	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ACCTTAAAGCTCATACTCAGC	0.547																																						ENST00000422441.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(1855-1857)cTc>cGc		integrin, alpha 9							49.0	46.0	47.0					3																	37670844		2203	4300	6503	SO:0001627	intron_variant	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37670844T>G	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1839+17T>G	3.37:g.37670844T>G						ITGA9_ENST00000264741.5_Intron	p.L619R			Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	16	2116	+			0					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.1856T>G	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	T	9.941	1.217387	0.22373	.	.	ENSG00000144668	ENST00000422441	T	0.67865	-0.29	2.99	1.79	0.24919	.	.	.	.	.	T	0.48114	0.1482	.	.	.	0.09310	N	1	P	0.41041	0.736	B	0.38803	0.282	T	0.25847	-1.0120	8	0.25106	T	0.35	.	4.8677	0.13616	0.0:0.1516:0.0:0.8484	.	619	E9PDS3	.	R	619	ENSP00000397258:L619R	ENSP00000397258:L619R	L	+	2	0	ITGA9	37645848	0.000000	0.05858	0.009000	0.14445	0.219000	0.24729	-0.165000	0.09968	0.374000	0.24650	0.533000	0.62120	CTC		0.547	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		5	22	0	0	0	1	0	5	22				
LTB	4050	broad.mit.edu	37	6	31549617	31549617	+	Missense_Mutation	SNP	G	G	T	rs527252991		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr6:31549617G>T	ENST00000429299.2	-	2	189	c.182C>A	c.(181-183)cCc>cAc	p.P61H	LTB_ENST00000446745.2_Intron|LTB_ENST00000483972.1_Intron	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	61				DPGAQAQQGL -> GLSAPGSGRT (in Ref. 2; AAB37342). {ECO:0000305}.	cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						CTGTGCCCCGGGGTCGGCCGT	0.627																																						ENST00000429299.2																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(181-183)cCc>cAc		lymphotoxin beta (TNF superfamily, member 3)	Infliximab(DB00065)|Simvastatin(DB00641)						87.0	97.0	94.0					6																	31549617		1509	2709	4218	SO:0001583	missense	4050				cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31549617G>T	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"""Tumor necrosis factor (ligand) superfamily"""	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.182C>A	6.37:g.31549617G>T	ENSP00000410481:p.Pro61His					LTB_ENST00000483972.1_Intron|LTB_ENST00000446745.2_Intron	p.P61H	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN			2	189	-			61	DPGAQAQQGL -> GLSAPGSGRT (in Ref. 2; AAB37342).				P78370|Q52LU8|Q99761	Missense_Mutation	SNP	ENST00000429299.2	37	c.182C>A	CCDS4703.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272434	0.59649	.	.	ENSG00000227507	ENST00000429299	T	0.23147	1.92	5.45	1.62	0.23740	.	0.261873	0.32314	N	0.006270	T	0.09113	0.0225	L	0.59436	1.845	0.09310	N	0.999994	P	0.40000	0.698	B	0.40329	0.326	T	0.22487	-1.0215	10	0.29301	T	0.29	-0.0199	4.9325	0.13925	0.2533:0.1532:0.5935:0.0	.	61	Q06643	TNFC_HUMAN	H	61	ENSP00000410481:P61H	ENSP00000410481:P61H	P	-	2	0	LTB	31657596	0.125000	0.22332	0.000000	0.03702	0.247000	0.25773	0.004000	0.13106	0.013000	0.14918	-0.140000	0.14226	CCC		0.627	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			12	84	1	0	8.60227e-14	1	1.00136e-13	12	84				
SYNE1	23345	broad.mit.edu	37	6	152711518	152711518	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr6:152711518A>T	ENST00000367255.5	-	53	8675	c.8074T>A	c.(8074-8076)Ttg>Atg	p.L2692M	SYNE1_ENST00000448038.1_Missense_Mutation_p.L2699M|SYNE1_ENST00000265368.4_Missense_Mutation_p.L2692M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2731M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2699M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2692					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L2692M(2)|p.L2699M(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTACTTCTCAAGGCCTGTTCC	0.473										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - Missense(3)	p.L2692M(2)|p.L2699M(1)	kidney(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8074-8076)Ttg>Atg		spectrin repeat containing, nuclear envelope 1							189.0	145.0	160.0					6																	152711518		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152711518A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8074T>A	6.37:g.152711518A>T	ENSP00000356224:p.Leu2692Met	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.L2692M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2699M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2731M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L2699M	p.L2692M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	53	8675	-		Ovarian(120;0.0955)	2692					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8074T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	12.76	2.035548	0.35893	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	6.17	1.1	0.20463	.	0.281376	0.24089	N	0.041647	T	0.11750	0.0286	L	0.40543	1.245	0.80722	D	1	B;B;B;P	0.38223	0.199;0.35;0.35;0.623	B;B;B;B	0.36378	0.03;0.111;0.111;0.223	T	0.09684	-1.0663	10	0.37606	T	0.19	.	0.4271	0.00465	0.2889:0.1353:0.1867:0.3892	.	2675;2692;2692;2699	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	2692;2699;2692;2699;2731	ENSP00000356224:L2692M;ENSP00000396024:L2699M;ENSP00000265368:L2692M;ENSP00000390975:L2699M;ENSP00000341887:L2731M	ENSP00000265368:L2692M	L	-	1	2	SYNE1	152753211	0.899000	0.30636	0.999000	0.59377	0.996000	0.88848	0.618000	0.24373	0.170000	0.19704	-0.250000	0.11733	TTG		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		11	123	0	0	0	1	0	11	123				
MFAP3L	9848	broad.mit.edu	37	4	170912627	170912627	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr4:170912627C>A	ENST00000361618.3	-	3	1439	c.1132G>T	c.(1132-1134)Gta>Tta	p.V378L	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.V275L	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	378						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TTATCTGGTACCTCAACAGGT	0.502																																						ENST00000361618.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1132-1134)Gta>Tta		microfibrillar-associated protein 3-like							164.0	138.0	147.0					4																	170912627		2203	4300	6503	SO:0001583	missense	9848					integral to membrane|plasma membrane		g.chr4:170912627C>A	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.1132G>T	4.37:g.170912627C>A	ENSP00000354583:p.Val378Leu					RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.V275L	p.V378L	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	1439	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	378					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	c.1132G>T	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	C	1.788	-0.480143	0.04383	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	D;D	0.98234	-4.81;-1.85	5.0	4.15	0.48705	.	1.521130	0.03847	N	0.271637	D	0.96237	0.8773	L	0.40543	1.245	0.39462	D	0.967581	B	0.10296	0.003	B	0.09377	0.004	D	0.83473	0.0060	10	0.18710	T	0.47	-0.6987	10.6208	0.45478	0.1915:0.8085:0.0:0.0	.	378	O75121	MFA3L_HUMAN	L	275;378	ENSP00000377307:V275L;ENSP00000354583:V378L	ENSP00000354583:V378L	V	-	1	0	MFAP3L	171149202	0.002000	0.14202	0.113000	0.21522	0.004000	0.04260	0.343000	0.19944	1.308000	0.44962	-0.188000	0.12872	GTA		0.502	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		38	497	1	0	2.40579e-17	1	2.84494e-17	38	497				
PRKAR2B	5577	broad.mit.edu	37	7	106793620	106793620	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr7:106793620A>T	ENST00000265717.4	+	8	1102		c.e8-1			NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CTTTCTTTGTAGTTTTCTGAA	0.333																																						ENST00000265717.4																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						c.e8-1		protein kinase, cAMP-dependent, regulatory, type II, beta							66.0	70.0	69.0					7																	106793620		2203	4299	6502	SO:0001630	splice_region_variant	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106793620A>T		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.844-1A>T	7.37:g.106793620A>T								NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN			8	1102	+								A4D0R9	Splice_Site	SNP	ENST00000265717.4	37		CCDS5740.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.021589	0.93462	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4578	0.84025	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKAR2B	106580856	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	9.170000	0.94795	2.288000	0.76882	0.482000	0.46254	.		0.333	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1		Intron	4	44	0	0	0	1	0	4	44				
SARS	6301	broad.mit.edu	37	1	109772058	109772058	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:109772058A>G	ENST00000234677.2	+	4	386	c.311A>G	c.(310-312)aAa>aGa	p.K104R	SARS_ENST00000369923.4_Missense_Mutation_p.K104R	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	104					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)	p.K104R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TCACAAATCAAAAAAGTCCGA	0.502																																						ENST00000369923.4																			1	Substitution - Missense(1)	p.K104R(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17						c.(310-312)aAa>aGa		seryl-tRNA synthetase	L-Serine(DB00133)						198.0	208.0	205.0					1																	109772058		2203	4300	6503	SO:0001583	missense	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109772058A>G	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.311A>G	1.37:g.109772058A>G	ENSP00000234677:p.Lys104Arg					SARS_ENST00000234677.2_Missense_Mutation_p.K104R	p.K104R			P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	4	322	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	104					B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	c.311A>G	CCDS795.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.696631	0.68386	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.42900	0.96;0.96	5.77	5.77	0.91146	tRNA-binding arm (1);	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	M	0.62154	1.92	0.80722	D	1	P;B;B;P	0.36974	0.576;0.06;0.424;0.576	B;B;B;B	0.43916	0.287;0.126;0.436;0.287	T	0.23691	-1.0181	10	0.38643	T	0.18	-16.5557	15.8091	0.78543	1.0:0.0:0.0:0.0	.	104;104;104;104	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	R	104	ENSP00000234677:K104R;ENSP00000358939:K104R	ENSP00000234677:K104R	K	+	2	0	SARS	109573581	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.272000	0.95707	2.212000	0.71576	0.529000	0.55759	AAA		0.502	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		78	639	0	0	0	1	0	78	639				
EGFR	1956	broad.mit.edu	37	7	55223621	55223621	+	Missense_Mutation	SNP	G	G	A	rs139429793		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr7:55223621G>A	ENST00000275493.2	+	8	1165	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	EGFR_ENST00000455089.1_Missense_Mutation_p.E285K|EGFR_ENST00000442591.1_Missense_Mutation_p.E330K|EGFR_ENST00000342916.3_Missense_Mutation_p.E330K|EGFR_ENST00000420316.2_Missense_Mutation_p.E330K|EGFR_ENST00000344576.2_Missense_Mutation_p.E330K|EGFR_ENST00000454757.2_Missense_Mutation_p.E277K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	330					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TAAGAAGTGCGAAGGGCCTTG	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(988-990)Gaa>Aaa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	36.0	33.0	34.0		988,988,988,988	5.6	0.9	7	dbSNP_134	34	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense,missense	EGFR	NM_005228.3,NM_201282.1,NM_201283.1,NM_201284.1	56,56,56,56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign,benign	330/1211,330/629,330/406,330/706	55223621	3,13003	2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223621G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.988G>A	7.37:g.55223621G>A	ENSP00000275493:p.Glu330Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.E330K|EGFR_ENST00000342916.3_Missense_Mutation_p.E330K|EGFR_ENST00000454757.2_Missense_Mutation_p.E277K|EGFR_ENST00000455089.1_Missense_Mutation_p.E285K|EGFR_ENST00000344576.2_Missense_Mutation_p.E330K|EGFR_ENST00000420316.2_Missense_Mutation_p.E330K	p.E330K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1165	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		330					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.988G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	9.290	1.050433	0.19827	0.0	3.49E-4	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.353241	0.35772	N	0.002995	T	0.38904	0.1058	L	0.49699	1.58	0.45025	D	0.998047	B;B;P;P;B	0.47191	0.169;0.046;0.891;0.493;0.044	B;B;B;B;B	0.38225	0.027;0.018;0.268;0.094;0.007	T	0.20571	-1.0271	10	0.31617	T	0.26	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	285;330;330;330;330	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	285;330;200;330;330;330;330;277;124	ENSP00000415559:E285K;ENSP00000342376:E330K;ENSP00000345973:E330K;ENSP00000413843:E330K;ENSP00000275493:E330K;ENSP00000410031:E330K;ENSP00000395243:E277K	ENSP00000275493:E330K	E	+	1	0	EGFR	55191115	1.000000	0.71417	0.923000	0.36655	0.293000	0.27360	4.587000	0.60991	2.655000	0.90218	0.655000	0.94253	GAA		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		22	21	0	0	0	1	0	22	21				
ZBTB41	360023	broad.mit.edu	37	1	197168567	197168567	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:197168567T>C	ENST00000367405.4	-	1	1105	c.1037A>G	c.(1036-1038)gAg>gGg	p.E346G	ZBTB41_ENST00000467322.1_5'UTR|CRB1_ENST00000535699.1_5'Flank	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	346					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.E346G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGTTAACCCCTCATGAACATT	0.373																																						ENST00000367405.4																			1	Substitution - Missense(1)	p.E346G(1)	kidney(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1036-1038)gAg>gGg		zinc finger and BTB domain containing 41							119.0	115.0	116.0					1																	197168567		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197168567T>C		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1037A>G	1.37:g.197168567T>C	ENSP00000356375:p.Glu346Gly					ZBTB41_ENST00000467322.1_5'UTR	p.E346G	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			1	1105	-			346					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.1037A>G	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.447985	0.43429	.	.	ENSG00000177888	ENST00000367405	T	0.06371	3.31	4.51	4.51	0.55191	.	0.000000	0.40222	U	0.001153	T	0.05868	0.0153	L	0.27053	0.805	0.58432	D	0.999994	B	0.27498	0.18	B	0.19946	0.027	T	0.32798	-0.9893	10	0.59425	D	0.04	.	13.8884	0.63724	0.0:0.0:0.0:1.0	.	346	Q5SVQ8	ZBT41_HUMAN	G	346	ENSP00000356375:E346G	ENSP00000356375:E346G	E	-	2	0	ZBTB41	195435190	1.000000	0.71417	0.990000	0.47175	0.847000	0.48162	4.862000	0.62976	1.673000	0.50895	0.248000	0.18094	GAG		0.373	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		48	154	0	0	0	1	0	48	154				
FNBP4	23360	broad.mit.edu	37	11	47738989	47738989	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:47738989C>T	ENST00000263773.5	-	17	3051	c.3039G>A	c.(3037-3039)atG>atA	p.M1013I	AGBL2_ENST00000298861.4_5'Flank|AGBL2_ENST00000528244.1_5'Flank|AGBL2_ENST00000529712.1_5'Flank|AGBL2_ENST00000357610.3_5'Flank|AGBL2_ENST00000525123.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	1013						nucleus (GO:0005634)		p.M1013I(1)|p.M1013_A1014>IS(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TGTTTGGAGCCATTTTCCTTC	0.333																																						ENST00000263773.5																			2	Substitution - Missense(1)|Complex - compound substitution(1)	p.M1013I(1)|p.M1013_A1014>IS(1)	kidney(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(3037-3039)atG>atA		formin binding protein 4							76.0	70.0	72.0					11																	47738989		1821	4077	5898	SO:0001583	missense	23360							g.chr11:47738989C>T	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.3039G>A	11.37:g.47738989C>T	ENSP00000263773:p.Met1013Ile						p.M1013I	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			17	3051	-			1013					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.3039G>A	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878445	0.33162	.	.	ENSG00000109920	ENST00000263773	T	0.30981	1.51	5.79	2.7	0.31948	.	0.147197	0.64402	D	0.000010	T	0.21186	0.0510	L	0.44542	1.39	0.34271	D	0.680999	B	0.20164	0.042	B	0.13407	0.009	T	0.16217	-1.0410	10	0.41790	T	0.15	-8.1169	4.5797	0.12253	0.1838:0.5801:0.1021:0.1339	.	1013	Q8N3X1	FNBP4_HUMAN	I	1013	ENSP00000263773:M1013I	ENSP00000263773:M1013I	M	-	3	0	FNBP4	47695565	0.164000	0.22935	0.996000	0.52242	0.845000	0.48019	0.379000	0.20585	1.454000	0.47793	0.655000	0.94253	ATG		0.333	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			10	124	0	0	0	1	0	10	124				
XPC	7508	broad.mit.edu	37	3	14200007	14200007	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:14200007T>A	ENST00000285021.7	-	9	1590	c.1376A>T	c.(1375-1377)gAt>gTt	p.D459V	XPC_ENST00000449060.2_Missense_Mutation_p.D422V	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	459	Asp/Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.D459V(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGTTCGGAATCCTCATCAGA	0.577			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Substitution - Missense(1)	p.D459V(1)	kidney(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1375-1377)gAt>gTt	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							42.0	45.0	44.0					3																	14200007		1568	3582	5150	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14200007T>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1376A>T	3.37:g.14200007T>A	ENSP00000285021:p.Asp459Val					XPC_ENST00000449060.2_Missense_Mutation_p.D422V	p.D459V	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			9	1590	-			459			Asp/Glu-rich (acidic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.1376A>T	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.523093	0.27211	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000545431	T;T	0.37915	1.17;1.21	5.8	2.06	0.26882	.	0.949150	0.09000	N	0.863151	T	0.44829	0.1312	M	0.69823	2.125	0.34609	D	0.717376	P;P	0.51653	0.933;0.947	P;P	0.49665	0.618;0.599	T	0.52351	-0.8587	10	0.72032	D	0.01	-4.1093	5.9076	0.19010	0.1233:0.1341:0.0:0.7426	.	422;459	E9PH69;Q01831	.;XPC_HUMAN	V	459;422;49	ENSP00000285021:D459V;ENSP00000404002:D422V	ENSP00000285021:D459V	D	-	2	0	XPC	14175010	0.582000	0.26749	0.002000	0.10522	0.034000	0.12701	1.764000	0.38471	0.112000	0.17975	0.533000	0.62120	GAT		0.577	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		10	30	0	0	0	1	0	10	30				
DST	667	broad.mit.edu	37	6	56373370	56373370	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr6:56373370C>A	ENST00000361203.3	-	70	18243	c.18236G>T	c.(18235-18237)gGa>gTa	p.G6079V	DST_ENST00000370769.4_Missense_Mutation_p.G6190V|DST_ENST00000446842.2_Missense_Mutation_p.G5864V|DST_ENST00000370754.5_Missense_Mutation_p.G6368V|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.G4102V|DST_ENST00000244364.6_Missense_Mutation_p.G3776V|DST_ENST00000370788.2_Missense_Mutation_p.G3993V|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	6071					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGATCAATTCCAGGATCTTC	0.378																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(19102-19104)gGa>gTa		dystonin							178.0	173.0	175.0					6																	56373370		1859	4098	5957	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56373370C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18236G>T	6.37:g.56373370C>A	ENSP00000354508:p.Gly6079Val					DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.G5864V|DST_ENST00000370769.4_Missense_Mutation_p.G6190V|DST_ENST00000244364.6_Missense_Mutation_p.G3776V|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Missense_Mutation_p.G6079V|DST_ENST00000421834.2_Missense_Mutation_p.G4102V|DST_ENST00000370788.2_Missense_Mutation_p.G3993V	p.G6368V			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		75	19102	-	Lung NSC(77;0.103)		6188					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.19103G>T		.	.	.	.	.	.	.	.	.	.	C	18.37	3.608137	0.66558	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.56776	0.99;0.99;0.99;0.99;0.99;0.99;0.44	6.06	5.19	0.71726	.	0.117142	0.38058	N	0.001831	T	0.64011	0.2560	M	0.68952	2.095	0.37588	D	0.920083	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.652;0.998	D;D;D;B;D	0.97110	1.0;1.0;1.0;0.307;0.976	T	0.67589	-0.5632	9	0.48119	T	0.1	.	16.6528	0.85221	0.131:0.869:0.0:0.0	.	4102;6190;6368;6188;3776	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	3776;6368;6190;4102;5864;3993;6079;192	ENSP00000244364:G3776V;ENSP00000359790:G6368V;ENSP00000359805:G6190V;ENSP00000400883:G4102V;ENSP00000393645:G5864V;ENSP00000359824:G3993V;ENSP00000354508:G6079V	ENSP00000244364:G3776V	G	-	2	0	DST	56481329	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	7.818000	0.86416	1.537000	0.49254	0.650000	0.86243	GGA		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		12	243	1	0	9.31168e-06	1	1.02018e-05	12	243				
CGA	1081	broad.mit.edu	37	6	87795978	87795978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr6:87795978G>T	ENST00000369582.2	-	3	363	c.263C>A	c.(262-264)tCa>tAa	p.S88*	RN7SKP209_ENST00000516888.1_RNA	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	88					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		CCTGTTATATGATTTAGCTAC	0.453																																						ENST00000369582.2																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15						c.(262-264)tCa>tAa		glycoprotein hormones, alpha polypeptide							165.0	163.0	163.0					6																	87795978		2203	4300	6503	SO:0001587	stop_gained	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87795978G>T	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.263C>A	6.37:g.87795978G>T	ENSP00000358595:p.Ser88*						p.S88*	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	3	363	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	88						Nonsense_Mutation	SNP	ENST00000369582.2	37	c.263C>A	CCDS5007.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192615	0.38707	.	.	ENSG00000135346	ENST00000369582	.	.	.	5.62	4.69	0.59074	.	0.609491	0.17636	N	0.167195	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-10.4196	15.3223	0.74132	0.0:0.0:0.8595:0.1404	.	.	.	.	X	88	.	ENSP00000358595:S88X	S	-	2	0	CGA	87852697	0.895000	0.30542	1.000000	0.80357	0.011000	0.07611	3.379000	0.52440	2.644000	0.89710	0.585000	0.79938	TCA		0.453	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		8	169	1	0	1.12685e-05	1	1.21667e-05	8	169				
YTHDC2	64848	broad.mit.edu	37	5	112884236	112884236	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr5:112884236A>T	ENST00000161863.4	+	11	1708		c.e11-1		YTHDC2_ENST00000515883.1_Splice_Site	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2						ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TCCTTTTTTTAGTTGATTACA	0.348																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.e11-1		YTH domain containing 2							61.0	64.0	63.0					5																	112884236		2202	4300	6502	SO:0001630	splice_region_variant	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112884236A>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1496-1A>T	5.37:g.112884236A>T						YTHDC2_ENST00000515883.1_Splice_Site		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	11	1708	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)						B2RP66	Splice_Site	SNP	ENST00000161863.4	37		CCDS4113.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447481	0.84101	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7527	0.77997	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YTHDC2	112912135	1.000000	0.71417	0.957000	0.39632	0.944000	0.59088	8.996000	0.93539	2.180000	0.69256	0.455000	0.32223	.		0.348	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	Intron	4	28	0	0	0	1	0	4	28				
RUSC1	23623	broad.mit.edu	37	1	155300229	155300229	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:155300229G>T	ENST00000368352.5	+	10	2727	c.2576G>T	c.(2575-2577)aGa>aTa	p.R859I	RUSC1_ENST00000292254.4_Missense_Mutation_p.R390I|RUSC1_ENST00000368354.3_Missense_Mutation_p.R753I|RUSC1_ENST00000368349.4_Missense_Mutation_p.R390I|RUSC1_ENST00000368347.4_Missense_Mutation_p.R449I|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	859	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	p.R449I(1)|p.R390I(1)|p.R753I(1)		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)			ACTGCTGCAAGACCTGACCAG	0.642																																						ENST00000368352.5																			3	Substitution - Missense(3)	p.R449I(1)|p.R390I(1)|p.R753I(1)	kidney(3)	breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2575-2577)aGa>aTa		RUN and SH3 domain containing 1							130.0	101.0	111.0					1																	155300229		2203	4300	6503	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155300229G>T	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.2576G>T	1.37:g.155300229G>T	ENSP00000357336:p.Arg859Ile					RUSC1_ENST00000368347.4_Missense_Mutation_p.R449I|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Missense_Mutation_p.R753I|RUSC1_ENST00000292254.4_Missense_Mutation_p.R390I|RUSC1_ENST00000368349.4_Missense_Mutation_p.R390I	p.R859I	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)		10	2727	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		859			SH3.		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2576G>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370665	0.24771	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.4	2.32	0.28847	Src homology-3 domain (4);	1.121510	0.07075	N	0.836042	T	0.26738	0.0654	L	0.33293	1	0.18873	N	0.999988	B;B;B;B;B;P;B	0.42203	0.03;0.024;0.03;0.202;0.232;0.773;0.137	B;B;B;B;B;P;B	0.46885	0.053;0.031;0.053;0.097;0.124;0.53;0.053	T	0.23868	-1.0176	10	0.52906	T	0.07	0.0639	7.14	0.25550	0.0986:0.4411:0.4603:0.0	.	357;390;390;284;449;358;859	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	I	753;859;449;390;390	ENSP00000357338:R753I;ENSP00000357336:R859I;ENSP00000357331:R449I;ENSP00000357333:R390I;ENSP00000292254:R390I	ENSP00000292254:R390I	R	+	2	0	RUSC1	153566853	0.110000	0.22057	0.936000	0.37596	0.408000	0.30992	0.562000	0.23531	1.172000	0.42781	0.467000	0.42956	AGA		0.642	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			34	514	1	0	3.09479e-21	1	3.68899e-21	34	514				
GFOD2	81577	broad.mit.edu	37	16	67709603	67709603	+	Missense_Mutation	SNP	C	C	T	rs147012796		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr16:67709603C>T	ENST00000268797.7	-	3	958	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	205					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)	p.V205M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TTCTGCCTCACGAATGTCTTG	0.612																																						ENST00000268797.7																			1	Substitution - Missense(1)	p.V205M(1)	breast(1)	breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(613-615)Gtg>Atg		glucose-fructose oxidoreductase domain containing 2		C	MET/VAL	0,4396		0,0,2198	72.0	65.0	68.0		613	5.3	1.0	16	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	GFOD2	NM_030819.3	21	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	205/386	67709603	1,12995	2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709603C>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.613G>A	16.37:g.67709603C>T	ENSP00000268797:p.Val205Met					GFOD2_ENST00000602377.1_5'UTR	p.V205M	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	958	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	205					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.613G>A	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397480	0.83120	0.0	1.16E-4	ENSG00000141098	ENST00000268797	T	0.48201	0.82	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.76002	2.32	0.80722	D	1	D	0.65815	0.995	P	0.61592	0.891	T	0.70945	-0.4734	10	0.66056	D	0.02	-30.7634	18.8749	0.92331	0.0:1.0:0.0:0.0	.	205	Q3B7J2	GFOD2_HUMAN	M	205	ENSP00000268797:V205M	ENSP00000268797:V205M	V	-	1	0	GFOD2	66267104	1.000000	0.71417	0.991000	0.47740	0.832000	0.47134	7.792000	0.85828	2.625000	0.88918	0.557000	0.71058	GTG		0.612	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		5	78	0	0	0	1	0	5	78				
NLRP4	147945	broad.mit.edu	37	19	56369428	56369428	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:56369428G>A	ENST00000301295.6	+	3	1091	c.669G>A	c.(667-669)ccG>ccA	p.P223P	NLRP4_ENST00000587891.1_Silent_p.P148P|NLRP4_ENST00000346986.5_Silent_p.P223P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	223	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTCTCAACCGGAGAGACTCT	0.557																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(667-669)ccG>ccA		NLR family, pyrin domain containing 4							81.0	80.0	80.0					19																	56369428		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369428G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.669G>A	19.37:g.56369428G>A						NLRP4_ENST00000587891.1_Silent_p.P148P|NLRP4_ENST00000346986.5_Silent_p.P223P	p.P223P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1091	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	223			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.669G>A	CCDS12936.1																																																																																				0.557	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		22	76	0	0	0	1	0	22	76				
PDYN	5173	broad.mit.edu	37	20	1961026	1961026	+	Silent	SNP	C	C	A	rs150953132		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr20:1961026C>A	ENST00000217305.2	-	4	933	c.708G>T	c.(706-708)gtG>gtT	p.V236V	PDYN_ENST00000539905.1_Silent_p.V236V|PDYN_ENST00000540134.1_Silent_p.V236V|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	236					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCGAGTCACCACCTTGAACT	0.527																																						ENST00000217305.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(706-708)gtG>gtT		prodynorphin							99.0	108.0	105.0					20																	1961026		2203	4300	6503	SO:0001819	synonymous_variant	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961026C>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.708G>T	20.37:g.1961026C>A						RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Silent_p.V236V|PDYN_ENST00000539905.1_Silent_p.V236V	p.V236V	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN			4	933	-			236					A8K0Q3	Silent	SNP	ENST00000217305.2	37	c.708G>T	CCDS13023.1																																																																																				0.527	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			11	295	1	0	0.00136819	1	0.0014256	11	295				
CHRNE	1145	broad.mit.edu	37	17	4804298	4804298	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:4804298G>A	ENST00000293780.4	-	7	799	c.789C>T	c.(787-789)ttC>ttT	p.F263F	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'Flank	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	263					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)	p.F263F(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GCGCCGGCAGGAAGTAGGCGA	0.657																																						ENST00000293780.4																			1	Substitution - coding silent(1)	p.F263F(1)	kidney(1)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						c.(787-789)ttC>ttT		cholinergic receptor, nicotinic, epsilon (muscle)							88.0	93.0	91.0					17																	4804298		2203	4300	6503	SO:0001819	synonymous_variant	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4804298G>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.789C>T	17.37:g.4804298G>A						C17orf107_ENST00000381365.3_3'UTR	p.F263F	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN			7	799	-			263					D3DTK6	Silent	SNP	ENST00000293780.4	37	c.789C>T	CCDS11058.1																																																																																				0.657	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			9	39	0	0	0	1	0	9	39				
XPOT	11260	broad.mit.edu	37	12	64827305	64827305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:64827305C>T	ENST00000332707.5	+	19	2903	c.2374C>T	c.(2374-2376)Cag>Tag	p.Q792*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	792	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.Q792*(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTTAGAGAAGCAGATGTTGCG	0.468																																						ENST00000332707.5																			1	Substitution - Nonsense(1)	p.Q792*(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2374-2376)Cag>Tag		exportin, tRNA							125.0	122.0	123.0					12																	64827305		2203	4300	6503	SO:0001587	stop_gained	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64827305C>T	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2374C>T	12.37:g.64827305C>T	ENSP00000327821:p.Gln792*						p.Q792*	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	19	2903	+			792			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Nonsense_Mutation	SNP	ENST00000332707.5	37	c.2374C>T	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	42	9.418179	0.99164	.	.	ENSG00000184575	ENST00000332707	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6484	0.91419	0.0:1.0:0.0:0.0	.	.	.	.	X	792	.	.	Q	+	1	0	XPOT	63113572	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	7.655000	0.83696	2.478000	0.83669	0.650000	0.86243	CAG		0.468	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		25	387	0	0	0	1	0	25	387				
NLRP7	199713	broad.mit.edu	37	19	55450450	55450450	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:55450450C>A	ENST00000590030.1	-	3	1777	c.1737G>T	c.(1735-1737)caG>caT	p.Q579H	NLRP7_ENST00000340844.2_Missense_Mutation_p.Q579H|NLRP7_ENST00000446217.1_Missense_Mutation_p.Q607H|NLRP7_ENST00000448121.2_Missense_Mutation_p.Q579H|NLRP7_ENST00000592784.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000588756.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000328092.5_Missense_Mutation_p.Q579H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	579							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCTCCTCCTCCTGAGACTCAT	0.493																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1735-1737)caG>caT		NLR family, pyrin domain containing 7							79.0	76.0	77.0					19																	55450450		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55450450C>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1737G>T	19.37:g.55450450C>A	ENSP00000465520:p.Gln579His					NLRP7_ENST00000448121.2_Missense_Mutation_p.Q579H|NLRP7_ENST00000340844.2_Missense_Mutation_p.Q579H|NLRP7_ENST00000592784.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000328092.5_Missense_Mutation_p.Q579H|NLRP7_ENST00000590030.1_Missense_Mutation_p.Q579H|NLRP7_ENST00000446217.1_Missense_Mutation_p.Q607H	p.Q579H			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	2223	-			579					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1737G>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215437	0.39102	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	1.92	1.92	0.25849	.	0.000000	0.31673	N	0.007241	T	0.62865	0.2463	L	0.58101	1.795	0.21579	N	0.999634	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.48139	-0.9061	10	0.87932	D	0	.	7.3493	0.26680	0.0:1.0:0.0:0.0	.	607;579;579;579	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	H	579;579;579;607;346	ENSP00000329568:Q579H;ENSP00000409137:Q579H;ENSP00000339491:Q579H;ENSP00000414273:Q607H	ENSP00000329568:Q579H	Q	-	3	2	NLRP7	60142262	0.135000	0.22499	0.479000	0.27329	0.067000	0.16453	-1.244000	0.02902	1.384000	0.46424	0.462000	0.41574	CAG		0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		75	503	1	0	2.35497e-27	1	2.85277e-27	75	503				
ATG2B	55102	broad.mit.edu	37	14	96756058	96756058	+	Missense_Mutation	SNP	G	G	C	rs144991946	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr14:96756058G>C	ENST00000359933.4	-	41	6834	c.5941C>G	c.(5941-5943)Cgg>Ggg	p.R1981G	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1981					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGGGCTAACCGGTGATGAGGA	0.502													G|||	6	0.00119808	0.0	0.0	5008	,	,		17502	0.0		0.003	False		,,,				2504	0.0031					ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(5941-5943)Cgg>Ggg		autophagy related 2B		G	GLY/ARG	2,4404	4.2+/-10.8	0,2,2201	159.0	147.0	151.0		5941	5.4	1.0	14	dbSNP_134	151	13,8587	9.8+/-36.6	0,13,4287	yes	missense	ATG2B	NM_018036.5	125	0,15,6488	CC,CG,GG		0.1512,0.0454,0.1153	benign	1981/2079	96756058	15,12991	2203	4300	6503	SO:0001583	missense	55102							g.chr14:96756058G>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5941C>G	14.37:g.96756058G>C	ENSP00000353010:p.Arg1981Gly						p.R1981G	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	41	6834	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1981					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.5941C>G	CCDS9944.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.00	2.998025	0.54147	4.54E-4	0.001512	ENSG00000066739	ENST00000359933	T	0.11712	2.75	5.4	5.4	0.78164	Autophagy-related, C-terminal (1);	0.058207	0.64402	D	0.000001	T	0.16514	0.0397	L	0.61036	1.89	0.51482	D	0.999921	B	0.02656	0.0	B	0.10450	0.005	T	0.02743	-1.1116	10	0.35671	T	0.21	.	19.5457	0.95295	0.0:0.0:1.0:0.0	.	1981	Q96BY7	ATG2B_HUMAN	G	1981	ENSP00000353010:R1981G	ENSP00000353010:R1981G	R	-	1	2	ATG2B	95825811	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	5.380000	0.66202	2.673000	0.90976	0.655000	0.94253	CGG		0.502	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		29	346	0	0	0	1	0	29	346				
ESPNP	284729	broad.mit.edu	37	1	17029462	17029462	+	RNA	SNP	A	A	G	rs11260891	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:17029462A>G	ENST00000492551.1	-	0	903					NR_026567.1				espin pseudogene																		CTAGTGCTGGAAAGCCCTGGG	0.577																																						ENST00000492551.1																			0																																																			284729							g.chr1:17029462A>G	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17029462A>G								NR_026567.1						0	903	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.577	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			7	19	0	0	0	1	0	7	19				
PEX7	5191	broad.mit.edu	37	6	137167252	137167252	+	Silent	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr6:137167252C>A	ENST00000318471.4	+	5	540	c.459C>A	c.(457-459)ggC>ggA	p.G153G	PEX7_ENST00000541292.1_Silent_p.G153G	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	153					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		CCTTTAGAGGCCATGAAAGTA	0.363																																						ENST00000541292.1																			0				lung(7)|prostate(1)	8						c.(457-459)ggC>ggA		peroxisomal biogenesis factor 7							122.0	111.0	115.0					6																	137167252		2203	4300	6503	SO:0001819	synonymous_variant	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137167252C>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.459C>A	6.37:g.137167252C>A						PEX7_ENST00000318471.4_Silent_p.G153G	p.G153G			O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	5	545	+	Colorectal(23;0.24)		153					C0H5X6	Silent	SNP	ENST00000318471.4	37	c.459C>A	CCDS5180.1																																																																																				0.363	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		5	97	1	0	0.00307968	1	0.00318661	5	97				
SMC3	9126	broad.mit.edu	37	10	112356197	112356197	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr10:112356197T>G	ENST00000361804.4	+	19	2131	c.2005T>G	c.(2005-2007)Tat>Gat	p.Y669D		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	669					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.Y669D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGGGGGTTATTATGACACAAG	0.383																																						ENST00000361804.4																			1	Substitution - Missense(1)	p.Y669D(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2005-2007)Tat>Gat		structural maintenance of chromosomes 3							116.0	116.0	116.0					10																	112356197		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112356197T>G	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2005T>G	10.37:g.112356197T>G	ENSP00000354720:p.Tyr669Asp						p.Y669D	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	19	2131	+		Breast(234;0.0848)|Lung NSC(174;0.238)	669					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.2005T>G	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600169	0.66332	.	.	ENSG00000108055	ENST00000361804	D	0.85629	-2.01	5.33	5.33	0.75918	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	L	0.34521	1.04	0.80722	D	1	P	0.49307	0.922	B	0.41412	0.356	T	0.79933	-0.1594	10	0.38643	T	0.18	.	15.3105	0.74028	0.0:0.0:0.0:1.0	.	669	Q9UQE7	SMC3_HUMAN	D	669	ENSP00000354720:Y669D	ENSP00000354720:Y669D	Y	+	1	0	SMC3	112346187	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	7.698000	0.84413	2.014000	0.59158	0.260000	0.18958	TAT		0.383	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		69	123	0	0	0	1	0	69	123				
CDK5RAP1	51654	broad.mit.edu	37	20	31967381	31967381	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr20:31967381A>T	ENST00000357886.4	-	9	1188	c.1035T>A	c.(1033-1035)taT>taA	p.Y345*	CDK5RAP1_ENST00000473997.1_Nonsense_Mutation_p.Y241*|CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.Y331*			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	345					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GCTTGGTTTTATAGTTGGTGG	0.473																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(1033-1035)taT>taA		CDK5 regulatory subunit associated protein 1							115.0	118.0	117.0					20																	31967381		2203	4300	6503	SO:0001587	stop_gained	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31967381A>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1035T>A	20.37:g.31967381A>T	ENSP00000350558:p.Tyr345*					CDK5RAP1_ENST00000452723.3_Nonsense_Mutation_p.Y241*|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.Y331*	p.Y345*			Q96SZ6	CK5P1_HUMAN			9	1188	-			345					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Nonsense_Mutation	SNP	ENST00000357886.4	37	c.1035T>A		.	.	.	.	.	.	.	.	.	.	A	37	6.482042	0.97603	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000452723;ENST00000544843	.	.	.	5.16	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0353	5.063	0.14566	0.8052:0.0:0.1948:0.0	.	.	.	.	X	331;345;241;331	.	ENSP00000217372:Y331X	Y	-	3	2	CDK5RAP1	31431042	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.225000	0.58600	2.162000	0.67917	0.459000	0.35465	TAT		0.473	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		7	145	0	0	0	1	0	7	145				
CDHR3	222256	broad.mit.edu	37	7	105635195	105635195	+	Splice_Site	SNP	A	A	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr7:105635195A>T	ENST00000317716.9	+	5	593		c.e5-1		CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000542731.1_Splice_Site|CDHR3_ENST00000343407.5_Splice_Site|CDHR3_ENST00000478080.1_Splice_Site|CDHR3_ENST00000470188.1_Intron	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTTGTTTTTTAGTATTTCCTG	0.438																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.e5-1		cadherin-related family member 3							94.0	83.0	87.0					7																	105635195		1846	4090	5936	SO:0001630	splice_region_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105635195A>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.514-1A>T	7.37:g.105635195A>T						CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000317716.9_Splice_Site|CDHR3_ENST00000478080.1_Splice_Site|CDHR3_ENST00000343407.5_Splice_Site				Q6ZTQ4	CDHR3_HUMAN			5	621	+								Q8TCI7	Splice_Site	SNP	ENST00000317716.9	37		CCDS47684.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453643	0.63290	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8947	0.58093	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDHR3	105422431	0.996000	0.38824	0.922000	0.36590	0.795000	0.44927	4.588000	0.60999	2.156000	0.67533	0.533000	0.62120	.		0.438	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750	Intron	3	16	0	0	0	1	0	3	16				
UGT1A10	54575	broad.mit.edu	37	2	234545342	234545342	+	Silent	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:234545342C>T	ENST00000344644.5	+	1	243	c.174C>T	c.(172-174)gtC>gtT	p.V58V	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.V58V	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	58					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.V58V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TGGTTGTAGTCATGCCAGAGG	0.517																																						ENST00000344644.5																			1	Substitution - coding silent(1)	p.V58V(1)	kidney(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(172-174)gtC>gtT									106.0	89.0	94.0					2																	234545342		2203	4300	6503	SO:0001819	synonymous_variant	54575							g.chr2:234545342C>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.174C>T	2.37:g.234545342C>T						UGT1A10_ENST00000373445.1_Silent_p.V58V|UGT1A8_ENST00000373450.4_Intron	p.V58V	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	243	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Silent	SNP	ENST00000344644.5	37	c.174C>T	CCDS33403.1																																																																																				0.517	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		13	256	0	0	0	1	0	13	256				
SPATA2	9825	broad.mit.edu	37	20	48523269	48523269	+	Silent	SNP	G	G	A	rs148068614	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr20:48523269G>A	ENST00000422556.1	-	3	799	c.450C>T	c.(448-450)ctC>ctT	p.L150L	SPATA2_ENST00000543716.1_Silent_p.L13L|SPATA2_ENST00000289431.5_Silent_p.L150L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	150					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGAGCTCTCTGAGCTTGTATG	0.502													G|||	15	0.00299521	0.0	0.0	5008	,	,		17145	0.0		0.002	False		,,,				2504	0.0133					ENST00000422556.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(448-450)ctC>ctT		spermatogenesis associated 2		G	,	3,4403	6.2+/-15.9	0,3,2200	50.0	50.0	50.0		450,450	4.7	0.9	20	dbSNP_134	50	20,8580	14.6+/-50.1	0,20,4280	no	coding-synonymous,coding-synonymous	SPATA2	NM_001135773.1,NM_006038.3	,	0,23,6480	AA,AG,GG		0.2326,0.0681,0.1768	,	150/521,150/521	48523269	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48523269G>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.450C>T	20.37:g.48523269G>A						SPATA2_ENST00000543716.1_Silent_p.L13L|SPATA2_ENST00000289431.5_Silent_p.L150L	p.L150L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	799	-	Hepatocellular(150;0.133)		150					E1P626|O94857	Silent	SNP	ENST00000422556.1	37	c.450C>T	CCDS13422.1																																																																																				0.502	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		7	165	0	0	0	1	0	7	165				
FNBP4	23360	broad.mit.edu	37	11	47738988	47738988	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:47738988C>A	ENST00000263773.5	-	17	3052	c.3040G>T	c.(3040-3042)Gct>Tct	p.A1014S	AGBL2_ENST00000298861.4_5'Flank|AGBL2_ENST00000528244.1_5'Flank|AGBL2_ENST00000529712.1_5'Flank|AGBL2_ENST00000357610.3_5'Flank|AGBL2_ENST00000525123.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	1014						nucleus (GO:0005634)		p.M1013_A1014>IS(1)|p.A1014S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GTGTTTGGAGCCATTTTCCTT	0.333																																						ENST00000263773.5																			2	Substitution - Missense(1)|Complex - compound substitution(1)	p.M1013_A1014>IS(1)|p.A1014S(1)	kidney(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(3040-3042)Gct>Tct		formin binding protein 4							75.0	69.0	71.0					11																	47738988		1820	4077	5897	SO:0001583	missense	23360							g.chr11:47738988C>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.3040G>T	11.37:g.47738988C>A	ENSP00000263773:p.Ala1014Ser						p.A1014S	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			17	3052	-			1014					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.3040G>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012385	0.35511	.	.	ENSG00000109920	ENST00000263773	T	0.34472	1.36	5.79	-0.524	0.11920	.	0.336553	0.30704	N	0.009043	T	0.18800	0.0451	N	0.14661	0.345	0.27063	N	0.96351	B	0.20368	0.044	B	0.18561	0.022	T	0.12760	-1.0535	10	0.39692	T	0.17	-4.0707	9.6337	0.39795	0.0:0.6018:0.0884:0.3098	.	1014	Q8N3X1	FNBP4_HUMAN	S	1014	ENSP00000263773:A1014S	ENSP00000263773:A1014S	A	-	1	0	FNBP4	47695564	0.109000	0.22037	0.982000	0.44146	0.829000	0.46940	-0.386000	0.07370	-0.322000	0.08615	-2.048000	0.00412	GCT		0.333	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			10	121	1	0	1.58986e-06	1	1.78113e-06	10	121				
PHLPP2	23035	broad.mit.edu	37	16	71682850	71682850	+	Silent	SNP	A	A	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr16:71682850A>G	ENST00000568954.1	-	19	4293	c.3915T>C	c.(3913-3915)ccT>ccC	p.P1305P	PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Silent_p.P1305P|PHLPP2_ENST00000567016.1_Silent_p.P1340P|PHLPP2_ENST00000393524.2_Silent_p.P1238P			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1305					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.P1305P(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CATGGGGCTCAGGCTCGAGCC	0.582																																						ENST00000393524.2																			1	Substitution - coding silent(1)	p.P1305P(1)	kidney(1)	central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3712-3714)ccT>ccC		PH domain and leucine rich repeat protein phosphatase 2							73.0	69.0	71.0					16																	71682850		2198	4300	6498	SO:0001819	synonymous_variant	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71682850A>G	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3915T>C	16.37:g.71682850A>G						PHLPP2_ENST00000568954.1_Silent_p.P1305P|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Silent_p.P1305P|PHLPP2_ENST00000567016.1_Silent_p.P1340P|PHLPP2_ENST00000540628.1_Intron	p.P1238P			Q6ZVD8	PHLP2_HUMAN			17	4447	-			1305					A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	c.3714T>C	CCDS32479.1																																																																																				0.582	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		54	91	0	0	0	1	0	54	91				
CTR9	9646	broad.mit.edu	37	11	10795708	10795708	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:10795708G>A	ENST00000361367.2	+	22	3303	c.2877G>A	c.(2875-2877)aaG>aaA	p.K959K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	959	Lys-rich.|Poly-Lys.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		agaagaaaaagaggagaagGT	0.368																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(2875-2877)aaG>aaA		CTR9, Paf1/RNA polymerase II complex component							127.0	106.0	113.0					11																	10795708		2201	4294	6495	SO:0001819	synonymous_variant	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10795708G>A	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2877G>A	11.37:g.10795708G>A							p.K959K	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	22	3303	+			959			Lys-rich.|Poly-Lys.		D3DQV8|Q15015	Silent	SNP	ENST00000361367.2	37	c.2877G>A	CCDS7805.1																																																																																				0.368	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		24	73	0	0	0	1	0	24	73				
CTNNA2	1496	broad.mit.edu	37	2	80136837	80136837	+	Silent	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:80136837C>A	ENST00000402739.4	+	6	975	c.970C>A	c.(970-972)Cga>Aga	p.R324R	CTNNA2_ENST00000496558.1_Silent_p.R324R|CTNNA2_ENST00000466387.1_Silent_p.R324R|CTNNA2_ENST00000541047.1_Silent_p.R324R|CTNNA2_ENST00000540488.1_Silent_p.R324R|CTNNA2_ENST00000361291.4_Silent_p.R358R	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	324					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R324R(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCCTGCACGCGAGACGACCG	0.647																																						ENST00000466387.1																			2	Substitution - coding silent(2)	p.R324R(2)	kidney(2)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(970-972)Cga>Aga		catenin (cadherin-associated protein), alpha 2							53.0	59.0	57.0					2																	80136837		2061	4208	6269	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136837C>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.970C>A	2.37:g.80136837C>A						CTNNA2_ENST00000402739.4_Silent_p.R324R|CTNNA2_ENST00000541047.1_Silent_p.R324R|CTNNA2_ENST00000540488.1_Silent_p.R324R|CTNNA2_ENST00000496558.1_Silent_p.R324R|CTNNA2_ENST00000361291.4_Silent_p.R358R	p.R324R			P26232	CTNA2_HUMAN			11	1694	+			324					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.970C>A																																																																																					0.647	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		31	96	1	0	3.88204e-17	1	4.55452e-17	31	96				
SLC7A10	56301	broad.mit.edu	37	19	33702235	33702235	+	Splice_Site	SNP	C	C	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:33702235C>G	ENST00000253188.4	-	7	1059		c.e7-1			NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.?(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CCCCGAAGGTCTGGGTGGGCA	0.617																																						ENST00000253188.3																			1	Unknown(1)	p.?(1)	kidney(1)	central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.e7-1		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							58.0	55.0	56.0					19																	33702235		2203	4300	6503	SO:0001630	splice_region_variant	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33702235C>G	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.913-1G>C	19.37:g.33702235C>G								NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			7	1059	-	Esophageal squamous(110;0.137)							B2RE84	Splice_Site	SNP	ENST00000253188.4	37		CCDS12431.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.997027	0.74818	.	.	ENSG00000130876	ENST00000253188	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.42127	D	0.991458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5701	0.87933	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC7A10	38394075	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	7.783000	0.85696	2.408000	0.81797	0.467000	0.42956	.		0.617	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849	Intron	7	24	0	0	0	1	0	7	24				
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368|rs143389223	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr15:102292785C>G	ENST00000561463.1	+	0	831									DNM1 pseudogene 47									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.Q125E(1)	kidney(1)																																																100216544							g.chr15:102292785C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292785C>G														0	831	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		6	5	0	0	0	1	0	6	5				
MANBA	4126	broad.mit.edu	37	4	103560981	103560981	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr4:103560981C>T	ENST00000226578.4	-	14	2002	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	MANBA_ENST00000505239.1_Missense_Mutation_p.E578K	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	635					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CGGTAGAATTCAGTTTCTGTT	0.468																																						ENST00000226578.4																			0				cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1903-1905)Gaa>Aaa		mannosidase, beta A, lysosomal							117.0	100.0	106.0					4																	103560981		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103560981C>T		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1903G>A	4.37:g.103560981C>T	ENSP00000226578:p.Glu635Lys					MANBA_ENST00000505239.1_Missense_Mutation_p.E578K	p.E635K	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	14	2002	-		Hepatocellular(203;0.217)	635					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.1903G>A	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579373	0.96565	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	D;D	0.86694	-2.16;-2.16	5.7	5.7	0.88788	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95695	0.8600	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.989;0.994	D	0.96247	0.9180	10	0.72032	D	0.01	-14.0955	19.895	0.96954	0.0:1.0:0.0:0.0	.	578;635	E9PFW2;O00462	.;MANBA_HUMAN	K	635;578	ENSP00000226578:E635K;ENSP00000427322:E578K	ENSP00000226578:E635K	E	-	1	0	MANBA	103780029	1.000000	0.71417	0.891000	0.34965	0.874000	0.50279	7.414000	0.80117	2.705000	0.92388	0.650000	0.86243	GAA		0.468	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			5	63	0	0	0	1	0	5	63				
RPUSD2	27079	broad.mit.edu	37	15	40866017	40866017	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr15:40866017G>C	ENST00000315616.7	+	3	1233	c.1195G>C	c.(1195-1197)Ggc>Cgc	p.G399R	RPUSD2_ENST00000559271.1_Missense_Mutation_p.G338R	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	399					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.G399R(1)		kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TCCTTCTCGAGGCCGGGGCGG	0.572																																						ENST00000315616.7																			1	Substitution - Missense(1)	p.G399R(1)	kidney(1)	kidney(4)|lung(4)|skin(3)	11						c.(1195-1197)Ggc>Cgc		RNA pseudouridylate synthase domain containing 2							60.0	57.0	58.0					15																	40866017		2203	4300	6503	SO:0001583	missense	27079				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr15:40866017G>C	AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.1195G>C	15.37:g.40866017G>C	ENSP00000323288:p.Gly399Arg					RPUSD2_ENST00000559271.1_Missense_Mutation_p.G338R	p.G399R	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)	3	1233	+		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	399					B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	c.1195G>C	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027480	0.75390	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.37235	1.21	5.36	5.36	0.76844	Pseudouridine synthase, catalytic domain (1);	0.047687	0.85682	D	0.000000	T	0.69700	0.3140	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76482	-0.2943	10	0.87932	D	0	-22.4607	18.8836	0.92367	0.0:0.0:1.0:0.0	.	399	Q8IZ73	RUSD2_HUMAN	R	399;378	ENSP00000323288:G399R	ENSP00000323288:G399R	G	+	1	0	RPUSD2	38653309	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	9.445000	0.97587	2.797000	0.96272	0.563000	0.77884	GGC		0.572	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260		71	202	0	0	0	1	0	71	202				
CAPN2	824	broad.mit.edu	37	1	223940635	223940635	+	Missense_Mutation	SNP	C	C	T	rs145466296	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:223940635C>T	ENST00000295006.5	+	9	1421	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V	CAPN2_ENST00000433674.2_Missense_Mutation_p.A293V	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	371	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GGCTCCACCGCGGGAGGTTGC	0.567													C|||	4	0.000798722	0.0	0.0014	5008	,	,		16640	0.0		0.003	False		,,,				2504	0.0					ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(1111-1113)gCg>gTg		calpain 2, (m/II) large subunit		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	80.0	90.0	86.0		878,1112	5.3	0.9	1	dbSNP_134	86	14,8586	9.8+/-36.6	0,14,4286	yes	missense,missense	CAPN2	NM_001146068.1,NM_001748.4	64,64	0,14,6489	TT,TC,CC		0.1628,0.0,0.1076	probably-damaging,probably-damaging	293/623,371/701	223940635	14,12992	2203	4300	6503	SO:0001583	missense	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223940635C>T	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1112C>T	1.37:g.223940635C>T	ENSP00000295006:p.Ala371Val					CAPN2_ENST00000433674.2_Missense_Mutation_p.A293V	p.A371V	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	9	1421	+			371			Domain III.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	c.1112C>T	CCDS31035.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	32	5.156569	0.94686	0.0	0.001628	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.95554	-3.74;-3.74	5.3	5.3	0.74995	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99513	1.0956	10	0.87932	D	0	.	19.3177	0.94223	0.0:1.0:0.0:0.0	.	293;371	B7ZA96;P17655	.;CAN2_HUMAN	V	293;371;400	ENSP00000413158:A293V;ENSP00000295006:A371V	ENSP00000295006:A371V	A	+	2	0	CAPN2	222007258	1.000000	0.71417	0.861000	0.33841	0.582000	0.36321	7.742000	0.85008	2.640000	0.89533	0.561000	0.74099	GCG		0.567	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		9	163	0	0	0	1	0	9	163				
RYR1	6261	broad.mit.edu	37	19	39051932	39051932	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:39051932G>A	ENST00000359596.3	+	90	12462	c.12462G>A	c.(12460-12462)ccG>ccA	p.P4154P	RYR1_ENST00000355481.4_Silent_p.P4149P|RYR1_ENST00000360985.3_Silent_p.P4149P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4154					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.P4154P(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGCATGTGCCGCATGACCCTC	0.627																																						ENST00000355481.4																			1	Substitution - coding silent(1)	p.P4154P(1)	kidney(1)	NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(12445-12447)ccG>ccA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						112.0	85.0	94.0					19																	39051932		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39051932G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12462G>A	19.37:g.39051932G>A						RYR1_ENST00000359596.3_Silent_p.P4154P|RYR1_ENST00000360985.3_Silent_p.P4149P	p.P4149P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		89	12578	+	all_cancers(60;7.91e-06)		4154					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.12447G>A	CCDS33011.1																																																																																				0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			202	455	0	0	0	1	0	202	455				
GDI2	2665	broad.mit.edu	37	10	5838827	5838827	+	Splice_Site	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr10:5838827T>A	ENST00000380191.4	-	3	444		c.e3-2		GDI2_ENST00000380132.4_Splice_Site|GDI2_ENST00000380181.3_Splice_Site	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2						protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TTTGTATAACTAAAAGCAAGG	0.308																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.e3-2		GDP dissociation inhibitor 2							72.0	72.0	72.0					10																	5838827		2203	4300	6503	SO:0001630	splice_region_variant	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5838827T>A	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.154-2A>T	10.37:g.5838827T>A						GDI2_ENST00000380132.4_Splice_Site|GDI2_ENST00000380181.3_Splice_Site		NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			3	444	-								O43928|Q5SX88|Q9UQM6	Splice_Site	SNP	ENST00000380191.4	37		CCDS7071.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182383	0.78677	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000418688;ENST00000380127	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2081	0.65748	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GDI2	5878833	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.928000	0.87587	1.884000	0.54569	0.533000	0.62120	.		0.308	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494	Intron	4	33	0	0	0	1	0	4	33				
TBATA	219793	broad.mit.edu	37	10	72532300	72532300	+	Missense_Mutation	SNP	T	T	C	rs143899859	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr10:72532300T>C	ENST00000299290.1	-	10	1329	c.940A>G	c.(940-942)Ata>Gta	p.I314V	TBATA_ENST00000394982.2_5'Flank	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	314					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											AAAGGTGATATCTTCGTTTTC	0.512													T|||	10	0.00199681	0.0008	0.0	5008	,	,		19913	0.0		0.0089	False		,,,				2504	0.0					ENST00000299290.1																			0											c.(940-942)Ata>Gta		thymus, brain and testes associated		T	VAL/ILE	4,4402	8.1+/-20.4	0,4,2199	203.0	198.0	199.0		940	-2.8	0.0	10	dbSNP_134	199	32,8568	22.2+/-67.0	0,32,4268	yes	missense	C10orf27	NM_152710.2	29	0,36,6467	CC,CT,TT		0.3721,0.0908,0.2768	benign	314/352	72532300	36,12970	2203	4300	6503	SO:0001583	missense	219793							g.chr10:72532300T>C	AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.940A>G	10.37:g.72532300T>C	ENSP00000299290:p.Ile314Val						p.I314V	NM_152710.2	NP_689923.2					10	1329	-								A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	ENST00000299290.1	37	c.940A>G	CCDS7308.1	8	0.003663003663003663	0	0.0	0	0.0	0	0.0	8	0.010554089709762533	T	6.078	0.382725	0.11524	9.08E-4	0.003721	ENSG00000166220	ENST00000299290	T	0.40476	1.03	4.3	-2.75	0.05914	.	1.237830	0.05930	N	0.635040	T	0.16769	0.0403	N	0.22421	0.69	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.08055	0.003;0.002;0.002	T	0.17653	-1.0362	10	0.15952	T	0.53	3.6105	4.4167	0.11459	0.4464:0.0:0.229:0.3245	.	313;315;314	B7ZMN4;B7ZMN5;Q96M53	.;.;SPATL_HUMAN	V	314	ENSP00000299290:I314V	ENSP00000299290:I314V	I	-	1	0	C10orf27	72202306	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.288000	0.08377	-0.159000	0.11021	-0.368000	0.07277	ATA		0.512	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048519.1	NM_152710		25	365	0	0	0	1	0	25	365				
SRCIN1	80725	broad.mit.edu	37	17	36708271	36708271	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:36708271A>C	ENST00000264659.7	-	14	2802	c.2578T>G	c.(2578-2580)Ttc>Gtc	p.F860V	SRCIN1_ENST00000578925.1_Missense_Mutation_p.F894V|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	732	Pro-rich.				exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.F860V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGCATTTCGAAGTCCACGCTC	0.617																																						ENST00000264659.7																			1	Substitution - Missense(1)	p.F860V(1)	kidney(1)	endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(2578-2580)Ttc>Gtc		SRC kinase signaling inhibitor 1							39.0	46.0	44.0					17																	36708271		1976	4130	6106	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36708271A>C		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2578T>G	17.37:g.36708271A>C	ENSP00000264659:p.Phe860Val					SRCIN1_ENST00000578925.1_Missense_Mutation_p.F894V|SRCIN1_ENST00000398579.4_5'UTR	p.F860V	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			14	2802	-			732			Pro-rich.		Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.2578T>G	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429381	0.43122	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.52526	0.66	4.69	3.61	0.41365	.	0.051181	0.85682	D	0.000000	T	0.33556	0.0867	L	0.40543	1.245	0.47245	D	0.999366	P;B;P;P	0.40230	0.708;0.4;0.655;0.655	B;B;B;B	0.40702	0.338;0.173;0.269;0.269	T	0.23762	-1.0179	10	0.02654	T	1	-12.0781	9.3762	0.38283	0.9132:0.0:0.0868:0.0	.	166;732;732;860	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	V	860;641;714	ENSP00000264659:F860V	ENSP00000264659:F860V	F	-	1	0	SRCIN1	33961797	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	2.446000	0.44908	0.942000	0.37525	0.459000	0.35465	TTC		0.617	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		23	35	0	0	0	1	0	23	35				
VPS13B	157680	broad.mit.edu	37	8	100887766	100887766	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr8:100887766G>T	ENST00000358544.2	+	62	12052	c.11941G>T	c.(11941-11943)Gtg>Ttg	p.V3981L	VPS13B_ENST00000357162.2_Missense_Mutation_p.V3956L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3981					protein transport (GO:0015031)			p.V3981L(1)|p.V3956L(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATGCCCTGTGGTGGCTGCAGA	0.468																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			2	Substitution - Missense(2)	p.V3981L(1)|p.V3956L(1)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(11941-11943)Gtg>Ttg		vacuolar protein sorting 13 homolog B (yeast)							150.0	129.0	136.0					8																	100887766		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100887766G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11941G>T	8.37:g.100887766G>T	ENSP00000351346:p.Val3981Leu					VPS13B_ENST00000357162.2_Missense_Mutation_p.V3956L|VPS13B_ENST00000395996.1_3'UTR	p.V3981L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		62	12052	+	Breast(36;3.73e-07)		3981					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.11941G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266546	0.59540	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69561	-0.4;-0.41	5.65	3.86	0.44501	.	0.217749	0.38897	N	0.001530	T	0.61337	0.2339	N	0.19112	0.55	0.80722	D	1	P;B	0.50943	0.94;0.117	P;B	0.53649	0.731;0.034	T	0.58387	-0.7645	10	0.33940	T	0.23	.	12.2247	0.54453	0.138:0.0:0.862:0.0	.	3956;3981	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	L	3956;3981	ENSP00000349685:V3956L;ENSP00000351346:V3981L	ENSP00000349685:V3956L	V	+	1	0	VPS13B	100956942	1.000000	0.71417	0.991000	0.47740	0.810000	0.45777	3.238000	0.51352	0.747000	0.32809	-0.150000	0.13652	GTG		0.468	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		11	214	1	0	4.93089e-13	1	5.65156e-13	11	214				
RELN	5649	broad.mit.edu	37	7	103132475	103132475	+	Splice_Site	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr7:103132475T>A	ENST00000428762.1	-	58	9529		c.e58-2		CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Splice_Site|RELN_ENST00000343529.5_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACCACAATCTAAAACAAACA	0.333																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.e58-2		reelin							86.0	77.0	80.0					7																	103132475		2203	4300	6503	SO:0001630	splice_region_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103132475T>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9370-2A>T	7.37:g.103132475T>A						CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Splice_Site|RELN_ENST00000343529.5_Splice_Site				P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	58	9529	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	37		CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684761	0.88639	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3829	0.83481	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	102919711	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.359000	0.79477	2.271000	0.75665	0.459000	0.35465	.		0.333	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Intron	4	30	0	0	0	1	0	4	30				
KRT31	3881	broad.mit.edu	37	17	39553696	39553696	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:39553696G>A	ENST00000251645.2	-	1	148	c.96C>T	c.(94-96)ccC>ccT	p.P32P		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	32	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGCAGGCCCCGGGCAGGGTGC	0.637																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(94-96)ccC>ccT		keratin 31							40.0	44.0	42.0					17																	39553696		2203	4300	6503	SO:0001819	synonymous_variant	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39553696G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.96C>T	17.37:g.39553696G>A							p.P32P	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			1	148	-		Breast(137;0.000496)	32			Head.		Q9UE12	Silent	SNP	ENST00000251645.2	37	c.96C>T	CCDS11391.1																																																																																				0.637	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		11	267	0	0	0	1	0	11	267				
EPB41L5	57669	broad.mit.edu	37	2	120900686	120900686	+	Silent	SNP	T	T	C	rs61730480	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:120900686T>C	ENST00000263713.5	+	19	1921	c.1707T>C	c.(1705-1707)gcT>gcC	p.A569A	EPB41L5_ENST00000452780.1_Silent_p.A569A|EPB41L5_ENST00000443902.2_Silent_p.A569A	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	569					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TTTTGAAGGCTCAAGTAGAAG	0.428													T|||	2	0.000399361	0.0	0.0029	5008	,	,		17527	0.0		0.0	False		,,,				2504	0.0					ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(1705-1707)gcT>gcC		erythrocyte membrane protein band 4.1 like 5		T	,	0,4406		0,0,2203	120.0	113.0	116.0		1707,1707	4.0	1.0	2	dbSNP_129	116	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous,coding-synonymous	EPB41L5	NM_001184937.1,NM_020909.3	,	0,9,6494	CC,CT,TT		0.1047,0.0,0.0692	,	569/688,569/734	120900686	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120900686T>C	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1707T>C	2.37:g.120900686T>C						EPB41L5_ENST00000443902.2_Silent_p.A569A|EPB41L5_ENST00000452780.1_Silent_p.A569A	p.A569A	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			19	1921	+			569					Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	ENST00000263713.5	37	c.1707T>C	CCDS2130.1																																																																																				0.428	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		15	442	0	0	0	1	0	15	442				
NOS1	4842	broad.mit.edu	37	12	117681127	117681127	+	Silent	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:117681127C>T	ENST00000338101.4	-	19	3043	c.3039G>A	c.(3037-3039)gtG>gtA	p.V1013V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.V979V			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.V979V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GAGCTTCGGCCACAAAGGTGA	0.517																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			1	Substitution - coding silent(1)	p.V979V(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2935-2937)gtG>gtA		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						220.0	211.0	214.0					12																	117681127		2021	4179	6200	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117681127C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3039G>A	12.37:g.117681127C>T						NOS1_ENST00000338101.4_Silent_p.V1013V|NOS1_ENST00000344089.3_3'UTR	p.V979V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	19	3622	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		979						Silent	SNP	ENST00000338101.4	37	c.2937G>A	CCDS55890.1																																																																																				0.517	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			52	473	0	0	0	1	0	52	473				
CYTH2	9266	broad.mit.edu	37	19	48977501	48977501	+	Missense_Mutation	SNP	G	G	A	rs1804728		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:48977501G>A	ENST00000452733.2	+	7	1086	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	CYTH2_ENST00000427476.1_Missense_Mutation_p.V204I			Q99418	CYH2_HUMAN	cytohesin 2	204					actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)	p.V204I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CAATCCCAATGTCCGGGACAA	0.632																																						ENST00000427476.1																			1	Substitution - Missense(1)	p.V204I(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(610-612)Gtc>Atc		cytohesin 2							105.0	87.0	93.0					19																	48977501		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48977501G>A	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.610G>A	19.37:g.48977501G>A	ENSP00000408236:p.Val204Ile					CYTH2_ENST00000452733.2_Missense_Mutation_p.V204I	p.V204I	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN			7	910	+			204					A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.610G>A	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695349	0.68386	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.54675	0.56;0.56;0.56	4.16	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	L	0.46741	1.465	0.58432	D	0.999999	B	0.32543	0.375	B	0.43889	0.435	T	0.52313	-0.8592	10	0.45353	T	0.12	.	10.0301	0.42096	0.1:0.0:0.9:0.0	.	204	Q99418-2	.	I	204;204;226	ENSP00000408236:V204I;ENSP00000391648:V204I;ENSP00000314566:V226I	ENSP00000314566:V226I	V	+	1	0	CYTH2	53669313	1.000000	0.71417	0.974000	0.42286	0.642000	0.38348	9.621000	0.98376	1.117000	0.41842	0.561000	0.74099	GTC		0.632	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		57	139	0	0	0	1	0	57	139				
IGSF8	93185	broad.mit.edu	37	1	160062372	160062372	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:160062372C>A	ENST00000368086.1	-	5	1642	c.1426G>T	c.(1426-1428)Gcc>Tcc	p.A476S	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Missense_Mutation_p.A476S			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	476	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGCTGGCGGCCAGCCGCAGT	0.687																																						ENST00000368086.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(1426-1428)Gcc>Tcc		immunoglobulin superfamily, member 8							16.0	19.0	18.0					1																	160062372		2164	4240	6404	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160062372C>A	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1426G>T	1.37:g.160062372C>A	ENSP00000357065:p.Ala476Ser					IGSF8_ENST00000314485.7_Missense_Mutation_p.A476S	p.A476S			Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		5	1642	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		476			Ig-like C2-type 4.		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.1426G>T	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	7.877	0.729382	0.15507	.	.	ENSG00000162729	ENST00000314485;ENST00000368086	T;T	0.21031	2.03;2.03	2.98	2.98	0.34508	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.606258	0.14489	U	0.316455	T	0.03011	0.0089	N	0.14661	0.345	0.36525	D	0.870417	P	0.42456	0.78	B	0.35182	0.197	T	0.10683	-1.0619	10	0.02654	T	1	-2.0708	10.8685	0.46869	0.0:1.0:0.0:0.0	.	476	Q969P0	IGSF8_HUMAN	S	476	ENSP00000316664:A476S;ENSP00000357065:A476S	ENSP00000316664:A476S	A	-	1	0	IGSF8	158328996	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	5.546000	0.67243	1.475000	0.48197	0.462000	0.41574	GCC		0.687	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		5	75	1	0	0.014758	1	0.0150612	5	75				
UNC5C	8633	broad.mit.edu	37	4	96106258	96106258	+	Silent	SNP	G	G	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr4:96106258G>T	ENST00000453304.1	-	13	2574	c.2226C>A	c.(2224-2226)cgC>cgA	p.R742R		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	742					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)		GAATTGACAGGCGCAGGTTGT	0.458																																						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.(2224-2226)cgC>cgA		unc-5 homolog C (C. elegans)							119.0	119.0	119.0					4																	96106258		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96106258G>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.2226C>A	4.37:g.96106258G>T							p.R742R	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	13	2574	-		Hepatocellular(203;0.114)	742					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.2226C>A	CCDS3643.1																																																																																				0.458	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		36	180	1	0	1.43246e-33	1	1.77864e-33	36	180				
DPY19L1	23333	broad.mit.edu	37	7	34981390	34981390	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr7:34981390A>G	ENST00000310974.4	-	18	1601	c.1457T>C	c.(1456-1458)aTc>aCc	p.I486T	MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	486						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.I486T(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCTTGAGCAGATCAGTGATGC	0.343																																						ENST00000310974.4																			1	Substitution - Missense(1)	p.I486T(1)	kidney(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(1456-1458)aTc>aCc		dpy-19-like 1 (C. elegans)							74.0	69.0	71.0					7																	34981390		1824	4101	5925	SO:0001583	missense	23333					integral to membrane		g.chr7:34981390A>G	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1457T>C	7.37:g.34981390A>G	ENSP00000308695:p.Ile486Thr						p.I486T	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			18	1601	-			486					O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.1457T>C	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731486	0.69189	.	.	ENSG00000173852	ENST00000310974	T	0.58506	0.33	5.14	5.14	0.70334	.	0.349338	0.31909	N	0.006871	T	0.64103	0.2568	M	0.73598	2.24	0.42507	D	0.992958	B	0.25048	0.117	B	0.35655	0.207	T	0.67325	-0.5699	10	0.72032	D	0.01	-10.7255	14.4374	0.67290	1.0:0.0:0.0:0.0	.	486	Q2PZI1	D19L1_HUMAN	T	486	ENSP00000308695:I486T	ENSP00000308695:I486T	I	-	2	0	DPY19L1	34947915	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.301000	0.96167	2.072000	0.62099	0.472000	0.43445	ATC		0.343	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			13	42	0	0	0	1	0	13	42				
PCDHB7	56129	broad.mit.edu	37	5	140554161	140554161	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr5:140554161C>T	ENST00000231137.3	+	1	1919	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P582L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCCGAGCCGGGCTACCTG	0.697																																						ENST00000231137.3																			1	Substitution - Missense(1)	p.P582L(1)	kidney(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1744-1746)cCg>cTg									27.0	38.0	34.0					5																	140554161		2069	4111	6180	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554161C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1745C>T	5.37:g.140554161C>T	ENSP00000231137:p.Pro582Leu						p.P582L	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1919	+			582			Cadherin 6.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1745C>T	CCDS4249.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.25|14.25	2.478042|2.478042	0.44044|0.44044	.|.	.|.	ENSG00000113212|ENSG00000113212	ENST00000231137|ENST00000543636	T|.	0.68903|.	-0.36|.	4.3|4.3	2.47|2.47	0.30058|0.30058	Cadherin (3);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.56659|0.56659	0.2000|0.2000	M|M	0.80422|0.80422	2.495|2.495	0.09310|0.09310	N|N	0.999996|0.999996	P|.	0.49253|.	0.921|.	B|.	0.41571|.	0.36|.	T|T	0.51647|0.51647	-0.8679|-0.8679	9|6	0.66056|0.87932	D|D	0.02|0	.|.	6.7023|6.7023	0.23232|0.23232	0.3129:0.6026:0.0:0.0845|0.3129:0.6026:0.0:0.0845	.|.	582|.	Q9Y5E2|.	PCDB7_HUMAN|.	L|W	582|365	ENSP00000231137:P582L|.	ENSP00000231137:P582L|ENSP00000440828:R365W	P|R	+|+	2|1	0|2	PCDHB7|PCDHB7	140534345|140534345	0.000000|0.000000	0.05858|0.05858	0.942000|0.942000	0.38095|0.38095	0.744000|0.744000	0.42396|0.42396	0.121000|0.121000	0.15667|0.15667	0.359000|0.359000	0.24239|0.24239	0.449000|0.449000	0.29647|0.29647	CCG|CGG		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		7	22	0	0	0	1	0	7	22				
ALG3	10195	broad.mit.edu	37	3	183960405	183960405	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:183960405C>T	ENST00000397676.3	-	9	1244	c.1214G>A	c.(1213-1215)aGc>aAc	p.S405N	ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000455059.1_Missense_Mutation_p.S365N|MIR1224_ENST00000408193.1_RNA|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.S357N|ALG3_ENST00000418734.2_Missense_Mutation_p.S349N	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	405					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCAGCAGAGCTGCAGGATGT	0.572																																						ENST00000455059.1																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(1093-1095)aGc>aAc		ALG3, alpha-1,3- mannosyltransferase							63.0	67.0	66.0					3																	183960405		2055	4214	6269	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183960405C>T	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1214G>A	3.37:g.183960405C>T	ENSP00000380793:p.Ser405Asn					ALG3_ENST00000397676.3_Missense_Mutation_p.S405N|ALG3_ENST00000418734.2_Missense_Mutation_p.S349N|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.S357N	p.S365N			Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1548	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		405					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.1094G>A	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227841	0.79576	.	.	ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	5.62	5.62	0.85841	.	0.000000	0.85682	U	0.000000	D	0.96433	0.8836	H	0.95187	3.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.97323	0.9945	10	0.87932	D	0	-14.5266	18.6456	0.91409	0.0:1.0:0.0:0.0	.	357;349;365;405	A8JZZ6;B4DS50;C9J7S5;Q92685	.;.;.;ALG3_HUMAN	N	349;405;357;365	ENSP00000402976:S349N;ENSP00000380793:S405N;ENSP00000402744:S357N;ENSP00000397613:S365N	ENSP00000380793:S405N	S	-	2	0	ALG3	185443099	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.966000	0.70395	2.645000	0.89757	0.462000	0.41574	AGC		0.572	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		5	99	0	0	0	1	0	5	99				
EHD3	30845	broad.mit.edu	37	2	31484489	31484489	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:31484489G>A	ENST00000322054.5	+	5	1275	c.990G>A	c.(988-990)gaG>gaA	p.E330E	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	330					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.E330E(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AGAAGAAGGAGCTGGTCAACA	0.572																																						ENST00000322054.5																			1	Substitution - coding silent(1)	p.E330E(1)	kidney(1)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(988-990)gaG>gaA		EH-domain containing 3							152.0	140.0	144.0					2																	31484489		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484489G>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.990G>A	2.37:g.31484489G>A						EHD3_ENST00000541626.1_Intron	p.E330E	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			5	1275	+	Acute lymphoblastic leukemia(172;0.155)		330					B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.990G>A	CCDS1774.1																																																																																				0.572	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		203	86	0	0	0	1	0	203	86				
ANK3	288	broad.mit.edu	37	10	61840378	61840378	+	Splice_Site	SNP	T	T	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr10:61840378T>A	ENST00000280772.2	-	36	4542		c.e36-2		ANK3_ENST00000373827.2_Splice_Site|Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000503366.1_Splice_Site|ANK3_ENST00000355288.2_Splice_Site	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTCAATCTGAAAAGGAAA	0.378																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.e36-2		ankyrin 3, node of Ranvier (ankyrin G)							62.0	59.0	60.0					10																	61840378		2203	4300	6503	SO:0001630	splice_region_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61840378T>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4351-2A>T	10.37:g.61840378T>A						ANK3_ENST00000355288.2_Splice_Site|ANK3_ENST00000373827.2_Splice_Site|ANK3_ENST00000503366.1_Splice_Site		NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			36	4542	-								B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Splice_Site	SNP	ENST00000280772.2	37		CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.48|18.48	3.632590|3.632590	0.67015|0.67015	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304|ENST00000511043	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.36|15.36	0.74464|0.74464	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|X	-1|1	.|.	.|.	.|R	-|-	.|1	.|2	ANK3|ANK3	61510384|61510384	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.974000|0.974000	0.67602|0.67602	7.698000|7.698000	0.84413|0.84413	2.029000|2.029000	0.59856|0.59856	0.460000|0.460000	0.39030|0.39030	.|AGA		0.378	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	Intron	4	56	0	0	0	1	0	4	56				
RASGRP2	10235	broad.mit.edu	37	11	64507132	64507132	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:64507132G>C	ENST00000354024.3	-	7	924	c.672C>G	c.(670-672)atC>atG	p.I224M	RASGRP2_ENST00000377497.3_Missense_Mutation_p.I224M|RASGRP2_ENST00000377494.1_Missense_Mutation_p.I224M|RASGRP2_ENST00000394432.3_Missense_Mutation_p.I224M	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	224	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)	p.I286M(1)		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						CAAAGTGTGTGATGACCAGGG	0.637																																						ENST00000377494.1																			1	Substitution - Missense(1)	p.I286M(1)	kidney(1)	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.(670-672)atC>atG		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							84.0	97.0	92.0					11																	64507132		2201	4297	6498	SO:0001583	missense	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.chr11:64507132G>C	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.672C>G	11.37:g.64507132G>C	ENSP00000338864:p.Ile224Met					RASGRP2_ENST00000377497.3_Missense_Mutation_p.I224M|RASGRP2_ENST00000354024.3_Missense_Mutation_p.I224M|RASGRP2_ENST00000394432.3_Missense_Mutation_p.I224M	p.I224M			Q7LDG7	GRP2_HUMAN			6	1594	-			224			Ras-GEF.		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.672C>G	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726841	0.69074	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	4.63	4.63	0.57726	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.052243	0.85682	D	0.000000	T	0.49474	0.1559	M	0.65498	2.005	0.80722	D	1	B;P	0.41393	0.208;0.748	B;P	0.54924	0.433;0.764	T	0.47249	-0.9132	10	0.46703	T	0.11	-15.6043	9.0912	0.36612	0.1019:0.0:0.8981:0.0	.	224;224	Q7LDG7;A6NDC7	GRP2_HUMAN;.	M	224	ENSP00000366714:I224M;ENSP00000377953:I224M;ENSP00000366717:I224M;ENSP00000338864:I224M;ENSP00000399114:I224M	ENSP00000338864:I224M	I	-	3	3	RASGRP2	64263708	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.834000	0.55798	2.295000	0.77249	0.555000	0.69702	ATC		0.637	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		22	61	0	0	0	1	0	22	61				
C1orf141	400757	broad.mit.edu	37	1	67559027	67559027	+	Silent	SNP	C	C	T	rs139606703		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:67559027C>T	ENST00000371007.2	-	8	973	c.864G>A	c.(862-864)gcG>gcA	p.A288A	C1orf141_ENST00000371006.1_Silent_p.A288A|C1orf141_ENST00000544837.1_Silent_p.A288A	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	288										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTGTGTGGCCCGCTTTAAAAG	0.323													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15789	0.0		0.0	False		,,,				2504	0.0					ENST00000371007.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(862-864)gcG>gcA		chromosome 1 open reading frame 141		C		1,4405	2.1+/-5.4	0,1,2202	89.0	90.0	89.0		864	-9.1	0.0	1	dbSNP_134	89	0,8598		0,0,4299	no	coding-synonymous	C1orf141	NM_001013674.1		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		288/401	67559027	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	400757							g.chr1:67559027C>T	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.864G>A	1.37:g.67559027C>T						C1orf141_ENST00000544837.1_Silent_p.A288A|C1orf141_ENST00000371006.1_Silent_p.A288A	p.A288A	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN			8	973	-			288					Q0P5P5|Q5JVX5	Silent	SNP	ENST00000371007.2	37	c.864G>A	CCDS30745.1																																																																																				0.323	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		6	51	0	0	0	1	0	6	51				
FMN1	342184	broad.mit.edu	37	15	33091085	33091085	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr15:33091085G>A	ENST00000559047.1	-	16	4049	c.4050C>T	c.(4048-4050)taC>taT	p.Y1350Y	FMN1_ENST00000561249.1_Silent_p.Y1252Y|FMN1_ENST00000334528.9_Silent_p.Y1127Y			Q68DA7	FMN1_HUMAN	formin 1	1350	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCATAAACACGTAGCTGGGTG	0.403																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(3379-3381)taC>taT		formin 1							107.0	97.0	100.0					15																	33091085		1882	4122	6004	SO:0001819	synonymous_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33091085G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.4050C>T	15.37:g.33091085G>A						FMN1_ENST00000559047.1_Silent_p.Y1350Y|FMN1_ENST00000561249.1_Silent_p.Y1252Y	p.Y1127Y	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	15	3380	-		all_lung(180;1.14e-07)	1350			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.3381C>T																																																																																					0.403	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		5	101	0	0	0	1	0	5	101				
TLN2	83660	broad.mit.edu	37	15	63030443	63030443	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr15:63030443A>G	ENST00000561311.1	+	29	3828	c.3598A>G	c.(3598-3600)Aac>Gac	p.N1200D	TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.N1200D			Q9Y4G6	TLN2_HUMAN	talin 2	1200					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.N1200D(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTCCTTGAATAACTGCGTAAA	0.502																																						ENST00000561311.1																			1	Substitution - Missense(1)	p.N1200D(1)	kidney(1)	NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(3598-3600)Aac>Gac		talin 2							144.0	128.0	133.0					15																	63030443		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.chr15:63030443A>G	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.3598A>G	15.37:g.63030443A>G	ENSP00000453508:p.Asn1200Asp					TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.N1200D	p.N1200D			Q9Y4G6	TLN2_HUMAN			29	3828	+			1200					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3598A>G	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555221	0.65425	.	.	ENSG00000171914	ENST00000306829	T	0.13778	2.56	5.35	5.35	0.76521	.	0.132804	0.64402	D	0.000002	T	0.15132	0.0365	L	0.46157	1.445	0.49582	D	0.999803	B	0.25850	0.136	B	0.28991	0.097	T	0.06373	-1.0830	10	0.20046	T	0.44	-23.0431	15.6362	0.76953	1.0:0.0:0.0:0.0	.	1200	Q9Y4G6	TLN2_HUMAN	D	1200	ENSP00000303476:N1200D	ENSP00000303476:N1200D	N	+	1	0	TLN2	60817735	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.451000	0.80668	2.155000	0.67459	0.533000	0.62120	AAC		0.502	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			237	171	0	0	0	1	0	237	171				
CDC42BPB	9578	broad.mit.edu	37	14	103452870	103452870	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr14:103452870C>A	ENST00000361246.2	-	6	932	c.644G>T	c.(643-645)cGc>cTc	p.R215L		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GTCAGCCAGGCGGATATGACC	0.378																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(643-645)cGc>cTc		CDC42 binding protein kinase beta (DMPK-like)							216.0	183.0	194.0					14																	103452870		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103452870C>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.644G>T	14.37:g.103452870C>A	ENSP00000355237:p.Arg215Leu						p.R215L	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	6	932	-		Melanoma(154;0.155)	215			Protein kinase.			Missense_Mutation	SNP	ENST00000361246.2	37	c.644G>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200754	0.94997	.	.	ENSG00000198752	ENST00000361246	T	0.39056	1.1	5.41	4.51	0.55191	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	L	0.28054	0.825	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59461	-0.7450	10	0.87932	D	0	.	16.5028	0.84262	0.0:0.8688:0.1312:0.0	.	215	Q9Y5S2	MRCKB_HUMAN	L	215	ENSP00000355237:R215L	ENSP00000355237:R215L	R	-	2	0	CDC42BPB	102522623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.750000	0.85110	1.400000	0.46741	0.650000	0.86243	CGC		0.378	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		19	288	1	0	0.667858	1	0.667858	19	288				
ARHGAP27	201176	broad.mit.edu	37	17	43481848	43481848	+	Missense_Mutation	SNP	C	C	A	rs112715622	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:43481848C>A	ENST00000428638.1	-	5	1375	c.1376G>T	c.(1375-1377)gGt>gTt	p.G459V	ARHGAP27_ENST00000442348.1_Missense_Mutation_p.G432V|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.G259V|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.G459V|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.G118V|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.G118V|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.G91V			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	459					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TGGGGTGTCACCATCCTGGCT	0.607													C|||	2	0.000399361	0.0	0.0	5008	,	,		18414	0.0		0.002	False		,,,				2504	0.0					ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(775-777)gGt>gTt		Rho GTPase activating protein 27		C	VAL/GLY	7,4399	12.9+/-30.5	0,7,2196	62.0	62.0	62.0		353	1.4	0.3	17	dbSNP_132	62	40,8560	26.3+/-74.7	0,40,4260	yes	missense	ARHGAP27	NM_199282.2	109	0,47,6456	AA,AC,CC		0.4651,0.1589,0.3614	benign	118/549	43481848	47,12959	2203	4300	6503	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43481848C>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1376G>T	17.37:g.43481848C>A	ENSP00000403323:p.Gly459Val					ARHGAP27_ENST00000376922.2_Missense_Mutation_p.G118V|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.G459V|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.G459V|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.G91V|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.G118V|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.G432V	p.G259V			Q6ZUM4	RHG27_HUMAN			5	911	-	Renal(3;0.0405)		459			WW 1.		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.776G>T		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	5.554	0.287023	0.10513	0.001589	0.004651	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881;ENST00000528677	T;T;T;T;T;T;T;T	0.47177	2.76;3.11;3.1;2.76;2.76;3.09;3.11;0.85	5.83	1.42	0.22433	.	4.601480	0.00166	N	0.000008	T	0.32466	0.0830	N	0.14661	0.345	0.58432	D	0.999996	B;B;B	0.30146	0.112;0.27;0.215	B;B;B	0.29716	0.094;0.106;0.067	T	0.09292	-1.0681	10	0.24483	T	0.36	.	7.239	0.26086	0.125:0.6472:0.0:0.2278	.	259;432;459	B7Z6T0;F8WBX1;Q6ZUM4	.;.;RHG27_HUMAN	V	259;118;91;459;459;432;118;202	ENSP00000432762:G259V;ENSP00000366121:G118V;ENSP00000431591:G91V;ENSP00000433942:G459V;ENSP00000403323:G459V;ENSP00000409330:G432V;ENSP00000408235:G118V;ENSP00000437100:G202V	ENSP00000366121:G118V	G	-	2	0	ARHGAP27	40837631	0.848000	0.29623	0.341000	0.25589	0.056000	0.15407	0.046000	0.14035	0.391000	0.25143	-1.094000	0.02160	GGT		0.607	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		4	37	1	0	0.014758	1	0.0150612	4	37				
SSU72	29101	broad.mit.edu	37	1	1500119	1500120	+	Intron	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:1500119_1500120insG	ENST00000291386.3	-	2	536				SSU72_ENST00000359060.4_Frame_Shift_Ins_p.P86fs	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)						dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GAGGACCACACGGGGGGTTTTT	0.505																																						ENST00000359060.4																			0				large_intestine(2)|lung(5)	7						c.(256-258)ctgfs		SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)																																				SO:0001627	intron_variant	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1500119_1500120insG	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.224+32->C	1.37:g.1500125_1500125dupG						SSU72_ENST00000291386.3_Intron	p.L86fs			Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	2	283_284	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	0					Q9BZS6|Q9H933	Frame_Shift_Ins	INS	ENST00000291386.3	37	c.257_258insC	CCDS32.1																																																																																				0.505	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		11	616						11	616	---	---	---	---
KIAA2013	90231	broad.mit.edu	37	1	11983199	11983200	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:11983199_11983200insC	ENST00000376572.3	-	2	1565_1566	c.1380_1381insG	c.(1378-1383)gggctgfs	p.L461fs	KIAA2013_ENST00000376576.3_Frame_Shift_Ins_p.L461fs	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	461						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G460G(1)		endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGAACTGCAGCCCCCCAAAGC	0.604																																						ENST00000376572.3																			1	Substitution - coding silent(1)	p.G460G(1)	ovary(1)	endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7						c.(1378-1383)ggtgcafs		KIAA2013																																				SO:0001589	frameshift_variant	90231					integral to membrane		g.chr1:11983199_11983200insC	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1381dupG	1.37:g.11983205_11983205dupC	ENSP00000365756:p.Leu461fs					KIAA2013_ENST00000376576.3_Frame_Shift_Ins_p.A461fs	p.A461fs	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	1565_1566	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	461					Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Frame_Shift_Ins	INS	ENST00000376572.3	37	c.1380_1381insG	CCDS141.1																																																																																				0.604	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		7	501						7	501	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)gccfs	p.A3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.A3375fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10198-10200)cccfs		vacuolar protein sorting 13 homolog D (S. cerevisiae)																																				SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12422832_12422833insC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10204dupC	1.37:g.12422838_12422838dupC	ENSP00000350854:p.Ala3400fs					VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	p.P3400fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	51	10328_10329	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3399						Frame_Shift_Ins	INS	ENST00000358136.3	37	c.10198_10199insC	CCDS30588.1																																																																																				0.426	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		11	481						11	481	---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17603074	17603075	+	Frame_Shift_Ins	INS	-	-	C	rs148039282	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:17603074_17603075insC	ENST00000375460.3	+	12	1408_1409	c.1368_1369insC	c.(1369-1371)cccfs	p.P457fs	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	457					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGAAGGTGCAGCCCCCCGTGGA	0.564																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1366-1371)caccccfs		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)																																			SO:0001589	frameshift_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17603074_17603075insC	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1374dupC	1.37:g.17603080_17603080dupC	ENSP00000364609:p.Pro457fs						p.HP456fs	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	12	1408_1409	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	456					Q58EY7|Q70SX5	Frame_Shift_Ins	INS	ENST00000375460.3	37	c.1368_1369insC	CCDS179.1																																																																																				0.564	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			8	587						8	587	---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18554419	18554420	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:18554419_18554420insC	ENST00000251296.1	+	2	481_482	c.98_99insC	c.(97-102)ctccccfs	p.LP33fs		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	33	Ig-like 1.					extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATTGAGCCTCTCCCCCCTGTGG	0.574																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(97-99)cccfs		immunoglobin superfamily, member 21																																				SO:0001589	frameshift_variant	84966					extracellular region		g.chr1:18554419_18554420insC	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.104dupC	1.37:g.18554425_18554425dupC	ENSP00000251296:p.Leu33fs						p.P33fs	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	2	481_482	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	33			Ig-like 1.		Q8NBR8	Frame_Shift_Ins	INS	ENST00000251296.1	37	c.98_99insC	CCDS184.1																																																																																				0.574	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		8	541						8	541	---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23222908	23222909	+	Splice_Site	INS	-	-	G	rs200219468		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:23222908_23222909insG	ENST00000400191.3	+	9	1720_1721	c.1702_1703insG	c.(1702-1704)cgg>cGgg	p.R568fs	EPHB2_ENST00000374632.3_Frame_Shift_Ins_p.R569fs|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Splice_Site_p.R563fs|EPHB2_ENST00000374630.3_Splice_Site_p.R568fs	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	568					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.R568W(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTCCAGAAGACGGGGGTTTGAG	0.614																																						ENST00000374632.3																			1	Substitution - Missense(1)	p.R568W(1)	endometrium(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56	GRCh37	CM065141	EPHB2	M		c.(1705-1707)gggfs		EPH receptor B2																																				SO:0001630	splice_region_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23222908_23222909insG	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1701-1->G	1.37:g.23222913_23222913dupG						EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Splice_Site_p.G563_splice|EPHB2_ENST00000400191.3_Splice_Site_p.G568_splice|EPHB2_ENST00000374630.3_Splice_Site_p.G568_splice	p.G569fs			P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	9	1718_1719	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	568					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Frame_Shift_Ins	INS	ENST00000400191.3	37	c.1705_1706insG																																																																																					0.614	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449	Frame_Shift_Ins	7	659						7	659	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G	rs202132789		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)ccafs	p.P937fs	LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.P937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2809-2811)cacfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23417944_23417945insG	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2811dupC	1.37:g.23417950_23417950dupG	ENSP00000303758:p.Pro937fs					LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs	p.H937fs			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3611_3612	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	937					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Ins	INS	ENST00000302291.4	37	c.2810_2811insC	CCDS30628.1																																																																																				0.495	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		12	429						12	429	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23419318	23419319	+	Frame_Shift_Ins	INS	-	-	G	rs200183824	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:23419318_23419319insG	ENST00000302291.4	-	4	2237_2238	c.1436_1437insC	c.(1435-1437)ccgfs	p.P479fs	LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.P479fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.P479fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.P479fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	479					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCTGAGCAGCCGGGGGGTAGCG	0.569																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1435-1437)cgcfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23419318_23419319insG	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1437dupC	1.37:g.23419324_23419324dupG	ENSP00000303758:p.Pro479fs					LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.R479fs	p.R479fs			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2237_2238	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	479					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Ins	INS	ENST00000302291.4	37	c.1436_1437insC	CCDS30628.1																																																																																				0.569	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		10	508						10	508	---	---	---	---
STPG1	90529	broad.mit.edu	37	1	24700193	24700194	+	Splice_Site	INS	-	-	G	rs538591348		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:24700193_24700194insG	ENST00000374409.1	-	6	823_824	c.569_570insC	c.(568-570)cca>ccCa	p.P190fs	STPG1_ENST00000440416.1_Splice_Site_p.P143fs|STPG1_ENST00000337248.4_Splice_Site_p.P190fs|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Splice_Site_p.P143fs	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	190					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCTGCTTACCTGGGGGAGGTCC	0.485																																						ENST00000374409.1																			0											c.e6+1		sperm-tail PG-rich repeat containing 1																																				SO:0001630	splice_region_variant	90529							g.chr1:24700193_24700194insG	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.571+1->C	1.37:g.24700198_24700198dupG						STPG1_ENST00000440416.1_Splice_Site_p.R143_splice|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Splice_Site_p.R190_splice|STPG1_ENST00000003583.8_Splice_Site_p.R143_splice	p.R190_splice	NM_001199012.1	NP_001185941.1					6	823_824	-								Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Splice_Site	INS	ENST00000374409.1	37	c.571_splice	CCDS55581.1																																																																																				0.485	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122	Frame_Shift_Ins	10	2473						10	2473	---	---	---	---
LDLRAP1	26119	broad.mit.edu	37	1	25889626	25889627	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:25889626_25889627insC	ENST00000374338.4	+	6	717_718	c.598_599insC	c.(598-600)accfs	p.T200fs	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	200					amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAGACTGCACCCCCTCCTTG	0.634																																						ENST00000374338.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(598-600)cccfs		low density lipoprotein receptor adaptor protein 1																																				SO:0001589	frameshift_variant	26119				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	g.chr1:25889626_25889627insC	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.603dupC	1.37:g.25889631_25889631dupC	ENSP00000363458:p.Thr200fs					LDLRAP1_ENST00000488127.1_3'UTR	p.P200fs	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)	6	717_718	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	200					A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Frame_Shift_Ins	INS	ENST00000374338.4	37	c.598_599insC	CCDS30639.1																																																																																				0.634	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627		10	156						10	156	---	---	---	---
RPS6KA1	6195	broad.mit.edu	37	1	26885310	26885311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:26885310_26885311insC	ENST00000374168.2	+	14	1251_1252	c.1097_1098insC	c.(1096-1101)atccccfs	p.IP366fs	RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.IP355fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.IP274fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.IP350fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.IP375fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.IP274fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	366	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCCCCAGGCATCCCCCCCAGCG	0.673																																						ENST00000374168.2																			0				lung(1)	1						c.(1096-1098)accfs		ribosomal protein S6 kinase, 90kDa, polypeptide 1																																				SO:0001589	frameshift_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26885310_26885311insC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1104dupC	1.37:g.26885317_26885317dupC	ENSP00000363283:p.Ile366fs					RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.T355fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.T375fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.T350fs	p.T366fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	14	1251_1252	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	366			AGC-kinase C-terminal.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Ins	INS	ENST00000374168.2	37	c.1097_1098insC	CCDS284.1																																																																																				0.673	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		7	214						7	214	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27101267	27101268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:27101267_27101268insC	ENST00000324856.7	+	18	4920_4921	c.4549_4550insC	c.(4549-4551)gccfs	p.A1517fs	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.A1134fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1517					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)		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)		CACGGGCTCTGCCCCCCAGGGC	0.584			"""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)	0				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.(4549-4551)cccfs		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.chr1:27101267_27101268insC	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.4555dupC	1.37:g.27101273_27101273dupC	ENSP00000320485:p.Ala1517fs					ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.P1134fs|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	p.P1517fs	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)	18	4920_4921	+		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)	1517					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.4549_4550insC	CCDS285.1																																																																																				0.584	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		10	557						10	557	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1848					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Insertion - Frameshift(3)	p.G1848fs*6(3)	ovary(2)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5539-5544)ggggggfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105930_27105931insG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5548dupG	1.37:g.27105937_27105937dupG	ENSP00000320485:p.Gly1848fs					ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs	p.GG1847fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5912_5913	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1847					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.5541_5542insG	CCDS285.1																																																																																				0.579	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		20	381						20	381	---	---	---	---
WASF2	10163	broad.mit.edu	37	1	27736340	27736340	+	Frame_Shift_Del	DEL	A	A	-	rs71584884		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:27736340delA	ENST00000430629.2	-	8	1400	c.1185delT	c.(1183-1185)cctfs	p.P400fs	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	400	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggaggagggggaggag	0.642																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(1183-1185)ccfs		WAS protein family, member 2							51.0	53.0	52.0					1																	27736340		2203	4300	6503	SO:0001589	frameshift_variant	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27736340delA	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1185delT	1.37:g.27736340delA	ENSP00000396211:p.Pro400fs					WASF2_ENST00000536657.1_Intron	p.P400fs	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	8	1400	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	400			Poly-Pro.		B4DZN0|O60794|Q9UDY7	Frame_Shift_Del	DEL	ENST00000430629.2	37	c.1185delT	CCDS304.1																																																																																				0.642	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		15	157						15	157	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs					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		12	506						12	506	---	---	---	---
SDC3	9672	broad.mit.edu	37	1	31347369	31347370	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:31347369_31347370insC	ENST00000339394.6	-	4	1110_1111	c.936_937insG	c.(934-939)gggcccfs	p.P313fs	SDC3_ENST00000336798.7_Frame_Shift_Ins_p.P255fs|SDC3_ENST00000471567.1_5'Flank	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	313					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|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)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCACTGGGCCCCCCACTCA	0.609																																						ENST00000336798.7																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(760-765)ggccagfs		syndecan 3																																				SO:0001589	frameshift_variant	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31347369_31347370insC	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.937dupG	1.37:g.31347375_31347375dupC	ENSP00000344468:p.Pro313fs					SDC3_ENST00000339394.6_Frame_Shift_Ins_p.Q313fs	p.Q255fs			O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	2	2254_2255	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	313			Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Frame_Shift_Ins	INS	ENST00000339394.6	37	c.762_763insG	CCDS30661.1																																																																																				0.609	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		8	251						8	251	---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31406073	31406074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:31406073_31406074insG	ENST00000257075.5	-	22	3638_3639	c.3545_3546insC	c.(3544-3546)cctfs	p.P1182fs	PUM1_ENST00000423018.2_Frame_Shift_Ins_p.P1040fs|SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.P1158fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.P1184fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.P940fs|PUM1_ENST00000373747.3_Frame_Shift_Ins_p.P1185fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.P1123fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.P1220fs	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1182					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TGATACCATTAGGGGGGCCACA	0.525																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3553-3555)caafs		pumilio RNA-binding family member 1																																				SO:0001589	frameshift_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31406073_31406074insG	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3546dupC	1.37:g.31406079_31406079dupG	ENSP00000257075:p.Pro1182fs					PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q1158fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q1184fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q940fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q1040fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q1220fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q1123fs|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q1182fs	p.Q1185fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	22	3653_3654	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1182					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Frame_Shift_Ins	INS	ENST00000257075.5	37	c.3554_3555insC	CCDS338.1																																																																																				0.525	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			13	516						13	516	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:32673442_32673443insG	ENST00000291358.6	+	5	1181_1182	c.1160_1161insG	c.(1159-1164)ttggggfs	p.LG387fs	RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_Frame_Shift_Ins_p.LG467fs|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.55																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1399-1401)tggfs		IQ motif containing C																																				SO:0001589	frameshift_variant	55721							g.chr1:32673442_32673443insG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1167dupG	1.37:g.32673449_32673449dupG	ENSP00000291358:p.Leu387fs					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		22	383						22	383	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs	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			13	192						13	192	---	---	---	---
AZIN2	113451	broad.mit.edu	37	1	33583704	33583705	+	In_Frame_Ins	INS	-	-	TGG			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:33583704_33583705insTGG	ENST00000294517.6	+	11	1818_1819	c.1231_1232insTGG	c.(1231-1233)tcc>tTGGcc	p.411_411S>LA	ADC_ENST00000373443.3_In_Frame_Ins_p.411_411S>LA|ADC_ENST00000398167.1_In_Frame_Ins_p.431_431S>LA|ADC_ENST00000373441.1_In_Frame_Ins_p.431_431S>LA|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		411					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CTATGCCATGTCCCGGGTGGCC	0.579																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1231-1233)ccg>TGGccg		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)																																			SO:0001652	inframe_insertion	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583704_33583705insTGG																												Exception_encountered	1.37:g.33583704_33583705insTGG	ENSP00000294517:p.Ser411delinsLeuAla					ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_In_Frame_Ins_p.410_411insW|ADC_ENST00000398167.1_In_Frame_Ins_p.430_431insW|ADC_ENST00000373441.1_In_Frame_Ins_p.430_431insW	p.410_411insW	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			11	1818_1819	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	410					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	In_Frame_Ins	INS	ENST00000294517.6	37	c.1231_1232insTGG	CCDS375.1																																																																																				0.579	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			7	119						7	119	---	---	---	---
PHC2	1912	broad.mit.edu	37	1	33799791	33799792	+	Frame_Shift_Ins	INS	-	-	G	rs34753508		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:33799791_33799792insG	ENST00000257118.5	-	9	1710_1711	c.1657_1658insC	c.(1657-1659)cagfs	p.Q553fs	PHC2_ENST00000485928.1_5'UTR|RN7SKP16_ENST00000410180.1_RNA|PHC2_ENST00000373418.3_Frame_Shift_Ins_p.Q18fs|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000431992.1_Frame_Shift_Ins_p.Q524fs|PHC2_ENST00000373416.1_Frame_Shift_Ins_p.Q18fs|PHC2_ENST00000419414.2_Frame_Shift_Ins_p.Q554fs|PHC2_ENST00000373422.3_Frame_Shift_Ins_p.Q159fs	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	553					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCACCATTCTGGGGGGCAGTG	0.589																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1657-1659)gaafs		polyhomeotic homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33799791_33799792insG	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1658dupC	1.37:g.33799797_33799797dupG	ENSP00000257118:p.Gln553fs					PHC2_ENST00000431992.1_Frame_Shift_Ins_p.E524fs|PHC2_ENST00000419414.2_Frame_Shift_Ins_p.E554fs|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Frame_Shift_Ins_p.E159fs|PHC2_ENST00000373416.1_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000373418.3_Frame_Shift_Ins_p.E18fs	p.E553fs	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			9	1710_1711	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	553					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Frame_Shift_Ins	INS	ENST00000257118.5	37	c.1657_1658insC	CCDS378.1																																																																																				0.589	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		8	387						8	387	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34035115	34035116	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:34035115_34035116insG	ENST00000373381.4	-	52	8165_8166	c.7989_7990insC	c.(7987-7992)cccaatfs	p.N2664fs		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2666	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGTGGCCATTGGGGGGAATCG	0.554																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(7987-7992)ccatggfs		CUB and Sushi multiple domains 2																																				SO:0001589	frameshift_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34035115_34035116insG	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7990dupC	1.37:g.34035121_34035121dupG	ENSP00000362479:p.Asn2664fs						p.W2664fs	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			52	8165_8166	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2666			Sushi 17.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Frame_Shift_Ins	INS	ENST00000373381.4	37	c.7989_7990insC																																																																																					0.554	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		7	159						7	159	---	---	---	---
AGO1	26523	broad.mit.edu	37	1	36354044	36354045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:36354044_36354045insC	ENST00000373204.4	+	2	255_256	c.42_43insC	c.(43-45)cccfs	p.P15fs	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	15					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GCGCTTACCTGCCCCCCCTGCA	0.569																																						ENST00000373204.4																			0											c.(40-45)ctccccfs		argonaute RISC catalytic component 1																																				SO:0001589	frameshift_variant	26523							g.chr1:36354044_36354045insC	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.49dupC	1.37:g.36354051_36354051dupC	ENSP00000362300:p.Pro15fs					AGO1_ENST00000373206.1_5'UTR	p.LP14fs	NM_012199.2	NP_036331.1					2	255_256	+								Q5TA57|Q6P4S0	Frame_Shift_Ins	INS	ENST00000373204.4	37	c.42_43insC	CCDS398.1																																																																																				0.569	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			17	184						17	184	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36636763	36636764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:36636763_36636764insC	ENST00000373151.2	+	2	454_455	c.238_239insC	c.(238-240)gccfs	p.A80fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.A80fs|MAP7D1_ENST00000316156.4_Frame_Shift_Ins_p.A80fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	80	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCTAGGCCAGCCCCCCCGCAG	0.653																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(238-240)cccfs		MAP7 domain containing 1																																				SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36636763_36636764insC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.245dupC	1.37:g.36636770_36636770dupC	ENSP00000362244:p.Ala80fs					MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P80fs|MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P80fs	p.P80fs			Q3KQU3	MA7D1_HUMAN			2	691_692	+		Myeloproliferative disorder(586;0.0393)	80			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Ins	INS	ENST00000373151.2	37	c.238_239insC	CCDS30673.1																																																																																				0.653	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		21	260						21	260	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:36935322_36935323insG	ENST00000373106.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)cccagcfs	p.S469fs	CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373103.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.S469fs	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1402-1407)ccgcgcfs		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)																																			SO:0001589	frameshift_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36935322_36935323insG	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1405dupC	1.37:g.36935329_36935329dupG	ENSP00000362198:p.Ser469fs					CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_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		31	636						31	636	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37291402	37291403	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:37291402_37291403insG	ENST00000373091.3	-	11	1571_1572	c.1555_1556insC	c.(1555-1557)ctgfs	p.L519fs	GRIK3_ENST00000373093.4_Frame_Shift_Ins_p.L519fs	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	519					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GGTGATGGTCAGGGGGGCCACG	0.54																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1555-1557)gacfs		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37291402_37291403insG	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1556dupC	1.37:g.37291408_37291408dupG	ENSP00000362183:p.Leu519fs					GRIK3_ENST00000373093.4_Frame_Shift_Ins_p.D519fs	p.D519fs	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			11	1571_1572	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	519					A9Z1Z8|B1AMS6|Q13004|Q16136	Frame_Shift_Ins	INS	ENST00000373091.3	37	c.1555_1556insC	CCDS416.1																																																																																				0.540	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		9	1555						9	1555	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)caafs	p.Q304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.Q194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(910-912)aaafs		zinc finger, MYND-type containing 12																																				SO:0001589	frameshift_variant	84217					intracellular	zinc ion binding	g.chr1:42898878_42898879insG	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.911dupC	1.37:g.42898884_42898884dupG	ENSP00000361646:p.Gln304fs					ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR	p.K304fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			7	1179_1180	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	304					Q5VUS6|Q8TC87|Q96M51	Frame_Shift_Ins	INS	ENST00000372565.3	37	c.910_911insC	CCDS467.1																																																																																				0.411	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		9	312						9	312	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-267)ttccccfs	p.FP88fs	RNF220_ENST00000361799.2_Frame_Shift_Ins_p.FP88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.FP88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(262-264)tccfs		ring finger protein 220																																				SO:0001589	frameshift_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878032_44878033insC	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.269dupC	1.37:g.44878038_44878038dupC	ENSP00000347548:p.Phe88fs					RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs	p.S88fs			Q5VTB9	RN220_HUMAN			2	713_714	+			88					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Frame_Shift_Ins	INS	ENST00000355387.2	37	c.263_264insC	CCDS510.1																																																																																				0.515	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		11	806						11	806	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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					ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		32	478						32	478	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65143921	65143922	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:65143921_65143922insC	ENST00000371073.2	+	23	3172_3173	c.3172_3173insC	c.(3172-3174)gccfs	p.A1058fs	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.A1007fs			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1058					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCCTACTGTGCCCCCCAGAAA	0.485																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3172-3174)cccfs		cache domain containing 1																																				SO:0001589	frameshift_variant	57685				calcium ion transport	integral to membrane		g.chr1:65143921_65143922insC	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3178dupC	1.37:g.65143927_65143927dupC	ENSP00000360113:p.Ala1058fs					CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1007fs|CACHD1_ENST00000495994.1_3'UTR	p.P1058fs			Q5VU97	CAHD1_HUMAN			23	3172_3173	+			1058					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Frame_Shift_Ins	INS	ENST00000371073.2	37	c.3172_3173insC																																																																																					0.485	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		9	199						9	199	---	---	---	---
PTGFR	5737	broad.mit.edu	37	1	78958518	78958519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:78958518_78958519insT	ENST00000370757.3	+	2	327_328	c.90_91insT	c.(91-93)tttfs	p.F31fs	PTGFR_ENST00000370758.1_Frame_Shift_Ins_p.F31fs|PTGFR_ENST00000370756.3_Frame_Shift_Ins_p.F31fs	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	31					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GGCTTTCCGTATTTTTTTCAGT	0.45																																						ENST00000370756.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(88-93)gtttttfs		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)																																			SO:0001589	frameshift_variant	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958518_78958519insT	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.97dupT	1.37:g.78958525_78958525dupT	ENSP00000359793:p.Phe31fs					PTGFR_ENST00000370758.1_Frame_Shift_Ins_p.VF30fs|PTGFR_ENST00000370757.3_Frame_Shift_Ins_p.VF30fs	p.VF30fs	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	327_328	+			30					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Frame_Shift_Ins	INS	ENST00000370757.3	37	c.90_91insT	CCDS686.1																																																																																				0.450	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		17	1740						17	1740	---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86921042	86921043	+	Frame_Shift_Ins	INS	-	-	C	rs375222512		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:86921042_86921043insC	ENST00000370565.4	+	14	2826_2827	c.2664_2665insC	c.(2665-2667)cccfs	p.P889fs		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	889					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CTCTGTTTATTCCCCCCAATTC	0.396																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.(2662-2667)atccccfs		chloride channel accessory 2																																				SO:0001589	frameshift_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86921042_86921043insC		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2670dupC	1.37:g.86921048_86921048dupC	ENSP00000359596:p.Pro889fs						p.IP888fs	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	14	2826_2827	+		Lung NSC(277;0.238)	888					A8K2T3|Q9Y6N2	Frame_Shift_Ins	INS	ENST00000370565.4	37	c.2664_2665insC	CCDS708.1																																																																																				0.396	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		7	375						7	375	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555|rs185821757		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		8	103						8	103	---	---	---	---
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1521)ctccccfs	p.LP506fs	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_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					RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_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		11	314						11	314	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		55	754						55	754	---	---	---	---
PPM1J	333926	broad.mit.edu	37	1	113253630	113253631	+	Splice_Site	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:113253630_113253631insT	ENST00000309276.6	-	7	1284_1285	c.1109_1110insA	c.(1108-1110)aag>aaAg	p.K370fs	PPM1J_ENST00000359994.4_Splice_Site_p.K164fs|RP11-426L16.10_ENST00000471038.2_Intron|PPM1J_ENST00000464951.1_Splice_Site_p.K164fs|RP11-426L16.10_ENST00000606505.1_Splice_Site_p.G52fs	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	370	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAGTTTACCTTTTTGCCCTC	0.559																																						ENST00000464951.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.e8+1		protein phosphatase, Mg2+/Mn2+ dependent, 1J																																				SO:0001630	splice_region_variant	333926							g.chr1:113253630_113253631insT	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1110+1->A	1.37:g.113253635_113253635dupT						RP11-426L16.10_ENST00000471038.2_Intron|PPM1J_ENST00000359994.4_Splice_Site_p.S164_splice|PPM1J_ENST00000309276.6_Splice_Site_p.S370_splice|RP11-426L16.10_ENST00000606505.1_Splice_Site_p.L52_splice	p.S164_splice			Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1899_1900	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	370			PP2C-like.		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Splice_Site	INS	ENST00000309276.6	37	c.492_splice	CCDS855.2																																																																																				0.559	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167	Frame_Shift_Ins	8	1803						8	1803	---	---	---	---
SLC16A1	6566	broad.mit.edu	37	1	113471889	113471890	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:113471889_113471890insG	ENST00000538576.1	-	2	872_873	c.41_42insC	c.(40-42)ccafs	p.P14fs	SLC16A1_ENST00000433570.4_Frame_Shift_Ins_p.P14fs|SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Frame_Shift_Ins_p.P14fs	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	14					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AGCCTCCATCTGGGGGGGTGTA	0.426																																						ENST00000538576.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20						c.(40-42)cgafs		solute carrier family 16 (monocarboxylate transporter), member 1	Pyruvic acid(DB00119)																																			SO:0001589	frameshift_variant	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113471889_113471890insG	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.42dupC	1.37:g.113471896_113471896dupG	ENSP00000441065:p.Pro14fs					SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Frame_Shift_Ins_p.R14fs|SLC16A1_ENST00000433570.4_Frame_Shift_Ins_p.R14fs	p.R14fs	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	2	872_873	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	14					Q49A45|Q5T8R6|Q9NSJ9	Frame_Shift_Ins	INS	ENST00000538576.1	37	c.41_42insC	CCDS858.1																																																																																				0.426	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		7	77						7	77	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118584454	118584455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:118584454_118584455insG	ENST00000336338.5	-	21	3090_3091	c.3025_3026insC	c.(3025-3027)cacfs	p.H1009fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1009						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTGGTTGGTGGGGGGACTCT	0.371																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(3025-3027)ccafs		sperm associated antigen 17																																				SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118584454_118584455insG		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3026dupC	1.37:g.118584460_118584460dupG	ENSP00000337804:p.His1009fs						p.P1009fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	21	3090_3091	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1009					Q8NAZ1|Q9NT21	Frame_Shift_Ins	INS	ENST00000336338.5	37	c.3025_3026insC	CCDS899.1																																																																																				0.371	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		8	517						8	517	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		20	906						20	906	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1798-1800)gggfs	p.G600fs	NUDT17_ENST00000444015.2_5'Flank|PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.G565fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	600					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1795-1800)ccggggfs		protein inhibitor of activated STAT, 3				11,4249		0,11,2119						4.1	1.0			46	12,8224		0,12,4106	no	frameshift	PIAS3	NM_006099.3		0,23,6225	A1A1,A1R,RR		0.1457,0.2582,0.1841				23,12473				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145585532_145585533insG	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1804dupG	1.37:g.145585539_145585539dupG	ENSP00000376765:p.Gly600fs					PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	p.PG599fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			14	1887_1888	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		599					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1797_1798insG	CCDS920.2																																																																																				0.663	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		10	105						10	105	---	---	---	---
GJA5	2702	broad.mit.edu	37	1	147230551	147230552	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:147230551_147230552insG	ENST00000271348.2	-	2	956_957	c.795_796insC	c.(793-798)cccgacfs	p.D266fs	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Frame_Shift_Ins_p.D266fs	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	266					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.P265P(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGATTAAAGTCGGGGGGTGGTG	0.53																																						ENST00000271348.2																			1	Substitution - coding silent(1)	p.P265P(1)	lung(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(793-798)ccacttfs		gap junction protein, alpha 5, 40kDa																																				SO:0001589	frameshift_variant	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230551_147230552insG		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.796dupC	1.37:g.147230557_147230557dupG	ENSP00000271348:p.Asp266fs					GJA5_ENST00000369237.1_Frame_Shift_Ins_p.L266fs	p.L266fs	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	956_957	-	all_hematologic(923;0.0276)		266					Q5T3B6|Q5U0N6	Frame_Shift_Ins	INS	ENST00000271348.2	37	c.795_796insC	CCDS929.1																																																																																				0.530	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		7	308						7	308	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1810-1812)gggfs	p.G604fs	TARS2_ENST00000606933.1_Frame_Shift_Ins_p.G522fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.G474fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	604					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569																																						ENST00000369064.3																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.C603C(2)|p.G604W(1)	urinary_tract(1)|lung(1)|endometrium(1)	cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1807-1812)tgggggfs		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)																																			SO:0001589	frameshift_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150477198_150477199insG	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1815dupG	1.37:g.150477204_150477204dupG	ENSP00000358060:p.Gly604fs					TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs	p.WG603fs	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)		15	1843_1844	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		603					Q53GW7|Q96I50|Q9H9V2	Frame_Shift_Ins	INS	ENST00000369064.3	37	c.1809_1810insG	CCDS952.1																																																																																				0.569	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		7	444						7	444	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150917623	150917624	+	Intron	INS	-	-	G	rs587715611|rs587751384|rs186820437	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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_ENST00000459773.1_Intron|SETDB1_ENST00000271640.5_Intron|SETDB1_ENST00000368969.4_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			10	91						10	91	---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G	rs548049340		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.P19fs|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_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_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		17	312						17	312	---	---	---	---
SELENBP1	8991	broad.mit.edu	37	1	151338280	151338281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:151338280_151338281insG	ENST00000368868.5	-	8	976_977	c.885_886insC	c.(883-888)cccaagfs	p.K296fs	SELENBP1_ENST00000426705.2_Frame_Shift_Ins_p.K338fs|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000435071.1_Frame_Shift_Ins_p.K232fs|SELENBP1_ENST00000447402.3_Frame_Shift_Ins_p.K234fs	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	296					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			TTCACTTTCTTGGGGGGCACCT	0.545																																						ENST00000435071.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(691-696)ccagaafs		selenium binding protein 1																																				SO:0001589	frameshift_variant	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151338280_151338281insG	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.886dupC	1.37:g.151338286_151338286dupG	ENSP00000357861:p.Lys296fs					SELENBP1_ENST00000368868.5_Frame_Shift_Ins_p.E296fs|SELENBP1_ENST00000447402.3_Frame_Shift_Ins_p.E234fs|SELENBP1_ENST00000426705.2_Frame_Shift_Ins_p.E338fs	p.E232fs			Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	1155_1156	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		296					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Frame_Shift_Ins	INS	ENST00000368868.5	37	c.693_694insC	CCDS995.1																																																																																				0.545	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			7	294						7	294	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152279926	152279936	+	Frame_Shift_Del	DEL	TCGTAGTGGGA	TCGTAGTGGGA	-	rs77498426|rs144157090		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:152279926_152279936delTCGTAGTGGGA	ENST00000368799.1	-	3	7461_7471	c.7426_7436delTCCCACTACGA	c.(7426-7437)tcccactacgagfs	p.SHYE2476fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2476	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)			TACCAATTGCTCGTAGTGGGATCCCTGCCTT	0.573									Ichthyosis																													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.(7426-7437)gfs		filaggrin																																				SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279926_152279936delTCGTAGTGGGA	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.7426_7436delTCCCACTACGA	1.37:g.152279926_152279936delTCGTAGTGGGA	ENSP00000357789:p.Ser2476fs					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.SHYE2476fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7461_7471	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2476			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.7426_7436delTCCCACTACGA	CCDS30860.1																																																																																				0.573	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		11	387						11	387	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281828	152281828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:152281828delT	ENST00000368799.1	-	3	5569	c.5534delA	c.(5533-5535)cacfs	p.H1845fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1845	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)			GGACGTGGTGTGGCTGTGATG	0.542									Ichthyosis																													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.(5533-5535)ccfs		filaggrin							358.0	350.0	353.0					1																	152281828		2203	4300	6503	SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281828delT	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.5534delA	1.37:g.152281828delT	ENSP00000357789:p.His1845fs					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H1845fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5569	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1845			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.5534delA	CCDS30860.1																																																																																				0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		33	513						33	513	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152282888	152282893	+	In_Frame_Del	DEL	GTCCAC	GTCCAC	-	rs143101193		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:152282888_152282893delGTCCAC	ENST00000368799.1	-	3	4504_4509	c.4469_4474delGTGGAC	c.(4468-4476)cgtggacac>cac	p.RG1490del	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1490	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)			GACCCCGGGTGTCCACGAATGGTGTC	0.583									Ichthyosis																													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.(4468-4476)cac>c		filaggrin																																				SO:0001651	inframe_deletion	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.chr1:152282888_152282893delGTCCAC	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.4469_4474delGTGGAC	1.37:g.152282888_152282893delGTCCAC	ENSP00000357789:p.Arg1490_Gly1491del					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.RGH1490del	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4504_4509	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1490			Ser-rich.		Q01720|Q5T583|Q9UC71	In_Frame_Del	DEL	ENST00000368799.1	37	c.4469_4474delGTGGAC	CCDS30860.1																																																																																				0.583	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		14	631						14	631	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152283772	152283772	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:152283772delT	ENST00000368799.1	-	3	3625	c.3590delA	c.(3589-3591)cacfs	p.H1197fs	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	1197	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)			GGATGTGGTGTGGCTGTGATG	0.562									Ichthyosis																													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.(3589-3591)ccfs		filaggrin							319.0	326.0	324.0					1																	152283772		2203	4298	6501	SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283772delT	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.3590delA	1.37:g.152283772delT	ENSP00000357789:p.His1197fs					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H1197fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3625	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1197			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.3590delA	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		33	502						33	502	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152283860	152283865	+	In_Frame_Del	DEL	GTGCAC	GTGCAC	-	rs58001094	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:152283860_152283865delGTGCAC	ENST00000368799.1	-	3	3532_3537	c.3497_3502delGTGCAC	c.(3496-3504)cgtgcacac>cac	p.RA1166del	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	1166	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)			GACCCCGGGTGTGCACGAATGGTGTC	0.602									Ichthyosis																													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.(3496-3504)cac>c		filaggrin																																				SO:0001651	inframe_deletion	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.chr1:152283860_152283865delGTGCAC	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.3497_3502delGTGCAC	1.37:g.152283860_152283865delGTGCAC	ENSP00000357789:p.Arg1166_Ala1167del					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.RAH1166del	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3532_3537	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1166			Ser-rich.		Q01720|Q5T583|Q9UC71	In_Frame_Del	DEL	ENST00000368799.1	37	c.3497_3502delGTGCAC	CCDS30860.1																																																																																				0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		11	575						11	575	---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152732677	152732678	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:152732677_152732678insC	ENST00000606109.1	+	1	641_642	c.613_614insC	c.(613-615)accfs	p.T205fs	KPRP_ENST00000368773.1_Frame_Shift_Ins_p.T205fs			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	205	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAACAACTACACCCCCCAGTTC	0.574																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(613-615)cccfs		keratinocyte proline-rich protein																																				SO:0001589	frameshift_variant	448834					cytoplasm		g.chr1:152732677_152732678insC	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.619dupC	1.37:g.152732683_152732683dupC	ENSP00000475216:p.Thr205fs					KPRP_ENST00000606109.1_Frame_Shift_Ins_p.P205fs	p.P205fs	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	671_672	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		205			Gln-rich.			Frame_Shift_Ins	INS	ENST00000606109.1	37	c.613_614insC	CCDS30862.1																																																																																				0.574	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		8	406						8	406	---	---	---	---
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs	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		9	650						9	650	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G	rs200778148		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(424-426)gggfs	p.G142fs	HAX1_ENST00000483970.2_Frame_Shift_Ins_p.G150fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.G94fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.G14fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	142	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(421-426)ttggggfs		HCLS1 associated protein X-1																																				SO:0001589	frameshift_variant	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246356_154246357insG	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.430dupG	1.37:g.154246363_154246363dupG	ENSP00000329002:p.Gly142fs					HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs	p.LG141fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	636_637	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		141		F -> L (in SCN3; mild form).	Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Frame_Shift_Ins	INS	ENST00000328703.7	37	c.423_424insG	CCDS1064.1																																																																																				0.554	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		19	299						19	299	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156628493	156628494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:156628493_156628494insC	ENST00000329117.5	+	13	2932_2933	c.2596_2597insC	c.(2596-2598)gccfs	p.A866fs	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	866	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGTTGGGAGGCCCCCCAGATC	0.604																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2596-2598)cccfs		brevican																																				SO:0001589	frameshift_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156628493_156628494insC	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2602dupC	1.37:g.156628499_156628499dupC	ENSP00000331210:p.Ala866fs					RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000496038.1_3'UTR	p.P866fs	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			13	2932_2933	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		866			Sushi.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Frame_Shift_Ins	INS	ENST00000329117.5	37	c.2596_2597insC	CCDS1149.1																																																																																				0.604	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		8	273						8	273	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs|MRPL24_ENST00000478899.1_5'Flank			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						ENST00000368211.4																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(52-54)ttafs		mitochondrial ribosomal protein L24																																				SO:0001589	frameshift_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708444_156708445insG	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs					MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs	p.L18fs	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN			2	190_191	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		18					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	ENST00000361531.2	37	c.52_53insC	CCDS1155.1																																																																																				0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		17	302						17	302	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)cccaagfs	p.K234fs	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.K234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(697-702)ccagaafs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159904586_159904587insG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.700dupC	1.37:g.159904592_159904592dupG	ENSP00000357073:p.Lys234fs					IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	p.E234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	896_897	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	234			Ig-like 3.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.699_700insC	CCDS44254.1																																																																																				0.569	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		11	464						11	464	---	---	---	---
VANGL2	57216	broad.mit.edu	37	1	160388801	160388802	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:160388801_160388802insG	ENST00000368061.2	+	4	676_677	c.202_203insG	c.(202-204)tggfs	p.W68fs		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	68					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.E70fs*17(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATGACAACTGGGGGGAAACG	0.554																																						ENST00000368061.2																			1	Insertion - Frameshift(1)	p.E70fs*17(1)	large_intestine(1)	biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(202-204)gggfs		VANGL planar cell polarity protein 2																																				SO:0001589	frameshift_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160388801_160388802insG	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.208dupG	1.37:g.160388807_160388807dupG	ENSP00000357040:p.Trp68fs						p.G68fs	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	676_677	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		68					D3DVE9|Q5T212	Frame_Shift_Ins	INS	ENST00000368061.2	37	c.202_203insG	CCDS30915.1																																																																																				0.554	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		13	526						13	526	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161059028	161059030	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:161059028_161059030delAGC	ENST00000368012.3	-	1	359_361	c.57_59delGCT	c.(55-60)ctgcta>cta	p.19_20LL>L	RP11-544M22.8_ENST00000447167.1_RNA	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	19					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCAGCAGTAGCAGCAGCAGCA	0.567																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(55-60)cta>ct		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161059028_161059030delAGC	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.57_59delGCT	1.37:g.161059037_161059039delAGC	ENSP00000356991:p.Leu22del						p.LL21del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		1	359_361	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		21					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.57_59delGCT	CCDS1216.1																																																																																				0.567	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		8	557						8	557	---	---	---	---
B4GALT3	8703	broad.mit.edu	37	1	161145761	161145762	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:161145761_161145762insC	ENST00000319769.5	-	3	311_312	c.89_90insG	c.(88-90)ggcfs	p.G30fs	PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Ins_p.G30fs|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	30					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)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GACTTCGGAAGCCCCCCAGTGA	0.599																																						ENST00000319769.5																			0				cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18						c.(88-90)gttfs		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	N-Acetyl-D-glucosamine(DB00141)																																			SO:0001589	frameshift_variant	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161145761_161145762insC	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.90dupG	1.37:g.161145767_161145767dupC	ENSP00000320965:p.Gly30fs					PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Ins_p.V30fs|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'UTR	p.V30fs	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	311_312	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		30					D3DVG3|O60910|Q9BPZ4|Q9H8T2	Frame_Shift_Ins	INS	ENST00000319769.5	37	c.89_90insG	CCDS1222.1																																																																																				0.599	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		11	519						11	519	---	---	---	---
DDR2	4921	broad.mit.edu	37	1	162745595	162745596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:162745595_162745596insC	ENST00000367922.3	+	16	2448_2449	c.2010_2011insC	c.(2011-2013)cccfs	p.P671fs	DDR2_ENST00000367921.3_Frame_Shift_Ins_p.P671fs|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	671	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CCCGCCACGAGCCCCCTAATTC	0.47																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(2008-2013)gaccccfs		discoidin domain receptor tyrosine kinase 2																																				SO:0001589	frameshift_variant	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162745595_162745596insC	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2015dupC	1.37:g.162745600_162745600dupC	ENSP00000356899:p.Pro671fs					DDR2_ENST00000367921.3_Frame_Shift_Ins_p.DP670fs	p.DP670fs	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		16	2448_2449	+	all_hematologic(112;0.115)		670			Protein kinase.		Q7Z730	Frame_Shift_Ins	INS	ENST00000367922.3	37	c.2010_2011insC	CCDS1241.1																																																																																				0.470	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		7	492						7	492	---	---	---	---
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-165)ttccccfs	p.FP54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554																																						ENST00000367854.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(160-162)tccfs		RCSD domain containing 1																																				SO:0001589	frameshift_variant	92241							g.chr1:167654710_167654711insC	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.168dupC	1.37:g.167654717_167654717dupC	ENSP00000356828:p.Phe54fs					RCSD1_ENST00000537350.1_Intron	p.S54fs	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN			3	492_493	+	all_hematologic(923;0.215)		54					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Frame_Shift_Ins	INS	ENST00000367854.3	37	c.161_162insC	CCDS1263.1																																																																																				0.554	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		8	256						8	256	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171227337	171227338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:171227337_171227338insG	ENST00000354841.4	+	1	242_243	c.111_112insG	c.(112-114)gggfs	p.G38fs	FMO1_ENST00000402921.2_Frame_Shift_Ins_p.G38fs|FMO1_ENST00000367750.3_Frame_Shift_Ins_p.G38fs|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	38					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GCGATGACCTTGGGGGGCTGTG	0.53																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(109-114)ctggggfs		flavin containing monooxygenase 1																																				SO:0001589	frameshift_variant	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171227337_171227338insG	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.117dupG	1.37:g.171227343_171227343dupG	ENSP00000346901:p.Gly38fs					FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000402921.2_Frame_Shift_Ins_p.LG37fs	p.LG37fs			Q01740	FMO1_HUMAN			1	242_243	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		37					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Frame_Shift_Ins	INS	ENST00000354841.4	37	c.111_112insG	CCDS1294.1																																																																																				0.530	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		17	873						17	873	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1227)ctggggfs	p.LG408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.LG408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574																																						ENST00000367662.3																			4	Deletion - Frameshift(2)|Substitution - coding silent(2)	p.L408fs*49(2)|p.L408L(2)	lung(4)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1222-1224)cggfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563963_176563964insG	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1229dupG	1.37:g.176563969_176563969dupG	ENSP00000356634:p.Leu408fs					PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	2387_2388	+			408					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.1223_1224insG	CCDS41438.1																																																																																				0.574	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			15	506						15	506	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:181549749_181549750insC	ENST00000367573.2	+	6	788_789	c.788_789insC	c.(787-792)gaccccfs	p.DP263fs	CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.DP214fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.DP214fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.DP263fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(787-789)gccfs		calcium channel, voltage-dependent, R type, alpha 1E subunit																																				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181549749_181549750insC	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.794dupC	1.37:g.181549755_181549755dupC	ENSP00000356545:p.Asp263fs					CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs	p.A263fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			6	953_954	+			263					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Ins	INS	ENST00000367573.2	37	c.788_789insC	CCDS55664.1																																																																																				0.505	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		13	1457						13	1457	---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182554908	182554909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:182554908_182554909insC	ENST00000367559.3	-	2	1286_1287	c.1033_1034insG	c.(1033-1035)gcafs	p.A345fs	RNASEL_ENST00000444138.1_Frame_Shift_Ins_p.A345fs|RNASEL_ENST00000539397.1_Frame_Shift_Ins_p.A345fs	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	345					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CTTCAGGGCTGCCCCCCAGTGT	0.455																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(1033-1035)agcfs		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)																																				SO:0001589	frameshift_variant	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182554908_182554909insC	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1034dupG	1.37:g.182554914_182554914dupC	ENSP00000356530:p.Ala345fs					RNASEL_ENST00000444138.1_Frame_Shift_Ins_p.S345fs|RNASEL_ENST00000539397.1_Frame_Shift_Ins_p.S345fs	p.S345fs	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	1286_1287	-			345					Q5W0L2|Q6AI46	Frame_Shift_Ins	INS	ENST00000367559.3	37	c.1033_1034insG	CCDS1347.1																																																																																				0.455	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		8	255						8	255	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184764537	184764538	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:184764537_184764538insC	ENST00000367511.3	-	14	2553_2554	c.2360_2361insG	c.(2359-2361)ggafs	p.G787fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	787	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTCTGGAAATCCCCCCAACTC	0.668																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(2359-2361)gttfs		family with sequence similarity 129, member A																																				SO:0001589	frameshift_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764537_184764538insC	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2361dupG	1.37:g.184764543_184764543dupC	ENSP00000356481:p.Gly787fs					FAM129A_ENST00000487074.1_5'UTR	p.V787fs	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			14	2553_2554	-			787			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Frame_Shift_Ins	INS	ENST00000367511.3	37	c.2360_2361insG	CCDS1364.1																																																																																				0.668	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			11	425						11	425	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200956270	200956271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:200956270_200956271insG	ENST00000422435.2	-	25	3783_3784	c.3467_3468insC	c.(3466-3468)ccafs	p.P1156fs	KIF21B_ENST00000461742.2_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000360529.5_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000332129.2_Frame_Shift_Ins_p.P1156fs	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1156					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)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGATATCCAGTGGGGGGCCCAG	0.559																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(3466-3468)cctfs		kinesin family member 21B																																				SO:0001589	frameshift_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200956270_200956271insG	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3468dupC	1.37:g.200956276_200956276dupG	ENSP00000411831:p.Pro1156fs					KIF21B_ENST00000422435.2_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000360529.5_Frame_Shift_Ins_p.P1156fs|KIF21B_ENST00000461742.2_Frame_Shift_Ins_p.P1156fs	p.P1156fs	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			25	3783_3784	-			1156					B2RP62|B7ZMI0|Q5T4J3	Frame_Shift_Ins	INS	ENST00000422435.2	37	c.3467_3468insC	CCDS58056.1																																																																																				0.559	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		19	1137						19	1137	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)gggaggfs	p.R584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.R584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1747-1752)ggggtafs		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046125_201046126insC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1750dupG	1.37:g.201046131_201046131dupC	ENSP00000355192:p.Arg584fs					CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	1975_1976	-			584					A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Ins	INS	ENST00000362061.3	37	c.1749_1750insG	CCDS1407.1																																																																																				0.574	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		18	666						18	666	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4504-4506)cccfs	p.P1502fs	MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.P1499fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.P1455fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.P1108fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.P1494fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.P1442fs	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_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs	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		14	506						14	506	---	---	---	---
KLHL12	59349	broad.mit.edu	37	1	202862507	202862508	+	Frame_Shift_Ins	INS	-	-	C	rs573767086		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:202862507_202862508insC	ENST00000367261.3	-	11	1657_1658	c.1439_1440insG	c.(1438-1440)ggafs	p.G480fs	KLHL12_ENST00000367259.1_Intron|KLHL12_ENST00000435533.3_Frame_Shift_Ins_p.G518fs	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	480	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TACCATCAAATCCCCCCACCAC	0.455																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(1438-1440)gttfs		kelch-like family member 12																																				SO:0001589	frameshift_variant	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202862507_202862508insC	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1440dupG	1.37:g.202862513_202862513dupC	ENSP00000356230:p.Gly480fs					KLHL12_ENST00000367259.1_Intron|KLHL12_ENST00000435533.3_Frame_Shift_Ins_p.V518fs	p.V480fs	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		11	1657_1658	-			480			Interaction with DVL3.		A6NEN8|B7Z7B8|Q9HBX5	Frame_Shift_Ins	INS	ENST00000367261.3	37	c.1439_1440insG	CCDS1429.1																																																																																				0.455	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		7	846						7	846	---	---	---	---
FMOD	2331	broad.mit.edu	37	1	203316599	203316600	+	Frame_Shift_Ins	INS	-	-	C	rs139730140		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:203316599_203316600insC	ENST00000354955.4	-	2	1262_1263	c.799_800insG	c.(799-801)gcgfs	p.A267fs	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	267					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGCTTGGGCGCCCCCCGGAAG	0.579																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(799-801)gccfs		fibromodulin																																				SO:0001589	frameshift_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316599_203316600insC	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.800dupG	1.37:g.203316605_203316605dupC	ENSP00000347041:p.Ala267fs					FMOD_ENST00000464898.1_5'UTR	p.A267fs	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1262_1263	-			267					Q15331|Q8IV47	Frame_Shift_Ins	INS	ENST00000354955.4	37	c.799_800insG	CCDS30976.1																																																																																				0.579	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		9	239						9	239	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203668728	203668729	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:203668728_203668729insG	ENST00000357681.5	+	4	1655_1656	c.532_533insG	c.(532-534)cggfs	p.R178fs	ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.R178fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.R178fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.R178fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.R178fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	178					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGCAATTCCGGGGGCTGCAG	0.51																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(532-534)gggfs		ATPase, Ca++ transporting, plasma membrane 4																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203668728_203668729insG	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.537dupG	1.37:g.203668733_203668733dupG	ENSP00000350310:p.Arg178fs					ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.G178fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.G178fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.G178fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.G178fs	p.G178fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		4	1655_1656	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		178					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.532_533insG	CCDS1440.1																																																																																				0.510	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		9	908						9	908	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624																																						ENST00000367187.3																			1	Deletion - Frameshift(1)	p.R287fs*92(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(859-861)cacfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta																																				SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438071_204438072insG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.860dupC	1.37:g.204438078_204438078dupG	ENSP00000356155:p.Arg287fs					PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1415_1416	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Ins	INS	ENST00000367187.3	37	c.859_860insC	CCDS1446.1																																																																																				0.624	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		22	178						22	178	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204924032	204924033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:204924032_204924033insC	ENST00000401399.1	+	6	687_688	c.488_489insC	c.(487-492)aaccccfs	p.NP163fs	NFASC_ENST00000367169.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000367172.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.NP163fs			O94856	NFASC_HUMAN	neurofascin	163	Ig-like C2-type 2.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.P159fs*12(1)|p.P165fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAGTGCAACCCCCCGCCTG	0.559																																						ENST00000367172.4																			2	Deletion - Frameshift(2)	p.P159fs*12(1)|p.P165fs*12(1)	large_intestine(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(487-489)accfs		neurofascin																																				SO:0001589	frameshift_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204924032_204924033insC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.494dupC	1.37:g.204924038_204924038dupC	ENSP00000385637:p.Asn163fs					NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs	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		9	745						9	745	---	---	---	---
TMEM81	388730	broad.mit.edu	37	1	205052693	205052694	+	Frame_Shift_Ins	INS	-	-	C	rs562433962	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:205052693_205052694insC	ENST00000367167.3	-	1	951_952	c.755_756insG	c.(754-756)ggcfs	p.G252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCTGCAGGCCCCCCCTTAG	0.54																																						ENST00000367167.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(754-756)gctfs		transmembrane protein 81																																				SO:0001589	frameshift_variant	388730					integral to membrane		g.chr1:205052693_205052694insC	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.756dupG	1.37:g.205052700_205052700dupC	ENSP00000356135:p.Gly252fs						p.A252fs	NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	951_952	-	all_cancers(21;0.144)|Breast(84;0.0437)		252					Q6UVZ4	Frame_Shift_Ins	INS	ENST00000367167.3	37	c.755_756insG	CCDS1450.1																																																																																				0.540	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		11	207						11	207	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367059.3_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_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR	p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		23	480						23	480	---	---	---	---
LAMB3	3914	broad.mit.edu	37	1	209807794	209807795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:209807794_209807795insC	ENST00000356082.4	-	6	695_696	c.561_562insG	c.(559-564)gggaagfs	p.K188fs	LAMB3_ENST00000367030.3_Frame_Shift_Ins_p.K188fs|LAMB3_ENST00000391911.1_Frame_Shift_Ins_p.K188fs	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	188	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTACCTACCTTCCCCCCATTTA	0.599																																						ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(559-564)ggaggtfs		laminin, beta 3																																				SO:0001589	frameshift_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209807794_209807795insC	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.562dupG	1.37:g.209807800_209807800dupC	ENSP00000348384:p.Lys188fs					LAMB3_ENST00000356082.4_Frame_Shift_Ins_p.G188fs|LAMB3_ENST00000367030.3_Frame_Shift_Ins_p.G188fs	p.G188fs	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	5	950_951	-			188			Laminin N-terminal.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Frame_Shift_Ins	INS	ENST00000356082.4	37	c.561_562insG	CCDS1487.1																																																																																				0.599	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		8	372						8	372	---	---	---	---
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)tccfs	p.S451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(1351-1353)cccfs		digestive organ expansion factor homolog (zebrafish)																																				SO:0001589	frameshift_variant	27042				multicellular organismal development	nucleus		g.chr1:210014266_210014267insC	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1357dupC	1.37:g.210014272_210014272dupC	ENSP00000419005:p.Ser451fs						p.P451fs	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			8	1408_1409	+			451					O75992|Q4VY00|Q63HL9	Frame_Shift_Ins	INS	ENST00000491415.2	37	c.1351_1352insC	CCDS1493.1																																																																																				0.465	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		8	393						8	393	---	---	---	---
SUSD4	55061	broad.mit.edu	37	1	223395558	223395559	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:223395558_223395559insC	ENST00000343846.3	-	8	2081_2082	c.1448_1449insG	c.(1447-1449)attfs	p.I483fs	SUSD4_ENST00000366878.4_Frame_Shift_Ins_p.I483fs|SUSD4_ENST00000454695.2_Frame_Shift_Ins_p.I323fs|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Intron|SUSD4_ENST00000484758.2_Frame_Shift_Ins_p.I414fs			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	483						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CCATTAGAGGAATCTCTGTAAA	0.406																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(1447-1449)accfs		sushi domain containing 4																																				SO:0001589	frameshift_variant	55061					integral to membrane		g.chr1:223395558_223395559insC	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1448_1449insG	1.37:g.223395558_223395559insC	ENSP00000344219:p.Ile483fs					SUSD4_ENST00000366878.4_Frame_Shift_Ins_p.T483fs|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_Frame_Shift_Ins_p.T323fs	p.T483fs			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	8	2081_2082	-			483					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Frame_Shift_Ins	INS	ENST00000343846.3	37	c.1448_1449insG	CCDS41471.1																																																																																				0.406	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		64	599						64	599	---	---	---	---
PGBD5	79605	broad.mit.edu	37	1	230493044	230493045	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:230493044_230493045insG	ENST00000525115.1	-	2	170_171	c.147_148insC	c.(145-150)cccagcfs	p.S50fs	PGBD5_ENST00000391860.1_Frame_Shift_Ins_p.S4fs|PGBD5_ENST00000321327.2_Frame_Shift_Ins_p.S149fs			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	50						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GCACTGGCGCTGGGGGGCATCT	0.569																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(442-447)ccgcgcfs		piggyBac transposable element derived 5																																				SO:0001589	frameshift_variant	79605					integral to membrane		g.chr1:230493044_230493045insG	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.148dupC	1.37:g.230493050_230493050dupG	ENSP00000431404:p.Ser50fs					PGBD5_ENST00000391860.1_Frame_Shift_Ins_p.R4fs|PGBD5_ENST00000525115.1_Frame_Shift_Ins_p.R50fs	p.R149fs			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	4	443_444	-	Breast(184;0.0397)	Prostate(94;0.167)	50					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Frame_Shift_Ins	INS	ENST00000525115.1	37	c.444_445insC																																																																																					0.569	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		7	481						7	481	---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18112337	18112338	+	Frame_Shift_Ins	INS	-	-	G	rs35579067		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:18112337_18112338insG	ENST00000403915.1	+	3	513_514	c.62_63insG	c.(61-66)gtggggfs	p.VG21fs	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.VG21fs	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	21					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCTGAATGTGGGGGGCTTTA	0.535																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(61-63)gggfs		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3																																				SO:0001589	frameshift_variant	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112337_18112338insG	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.68dupG	2.37:g.18112343_18112343dupG	ENSP00000385968:p.Val21fs					KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.G21fs|KCNS3_ENST00000465292.1_Intron	p.G21fs			Q9BQ31	KCNS3_HUMAN			3	513_514	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		21					D6W520|O43651|Q4ZFY1|Q96B56	Frame_Shift_Ins	INS	ENST00000403915.1	37	c.62_63insG	CCDS1692.1																																																																																				0.535	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		8	879						8	879	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25523008	25523009	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:25523008_25523009insG	ENST00000264709.3	-	3	513_514	c.176_177insC	c.(175-177)ccg>ccCg	p.P59fs	DNMT3A_ENST00000406659.3_Splice_Site_p.P59fs|DNMT3A_ENST00000321117.5_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_ENST00000321117.5_Splice_Site_p.R59_splice|DNMT3A_ENST00000406659.3_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	15	354						15	354	---	---	---	---
CAD	790	broad.mit.edu	37	2	27456981	27456982	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:27456981_27456982insC	ENST00000403525.1	+	21	3460_3461	c.3316_3317insC	c.(3316-3318)accfs	p.T1106fs	CAD_ENST00000264705.4_Frame_Shift_Ins_p.T1169fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACGCTGGTGACCCCCCCACAA	0.574																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3505-3507)cccfs		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27456981_27456982insC	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3323dupC	2.37:g.27456988_27456988dupC	ENSP00000384510:p.Thr1106fs					CAD_ENST00000403525.1_Frame_Shift_Ins_p.P1106fs	p.P1169fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			22	3667_3668	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1169			ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Ins	INS	ENST00000403525.1	37	c.3505_3506insC																																																																																					0.574	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			7	197						7	197	---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27479379	27479380	+	Frame_Shift_Ins	INS	-	-	G	rs146572471	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:27479379_27479380insG	ENST00000233535.4	-	7	1244_1245	c.892_893insC	c.(892-894)cgcfs	p.R298fs	SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.R293fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	298					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)	p.R298H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACATTGCGGGGGGTACCT	0.604																																						ENST00000233535.4																			1	Substitution - Missense(1)	p.R298H(1)	pancreas(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(892-894)caafs		solute carrier family 30 (zinc transporter), member 3																																				SO:0001589	frameshift_variant	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27479379_27479380insG	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.893dupC	2.37:g.27479385_27479385dupG	ENSP00000233535:p.Arg298fs					SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.Q293fs	p.Q298fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN			7	1244_1245	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		298					Q8TC03	Frame_Shift_Ins	INS	ENST00000233535.4	37	c.892_893insC	CCDS1743.1																																																																																				0.604	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			12	978						12	978	---	---	---	---
NRBP1	29959	broad.mit.edu	37	2	27658017	27658018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:27658017_27658018insC	ENST00000233557.3	+	8	1416_1417	c.584_585insC	c.(583-588)gaccccfs	p.DP195fs	NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.DP195fs|NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.DP195fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACTCCTGTGACCCCCCCATCA	0.589																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(583-585)gccfs		nuclear receptor binding protein 1																																				SO:0001589	frameshift_variant	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27658017_27658018insC	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.591dupC	2.37:g.27658024_27658024dupC	ENSP00000233557:p.Asp195fs					NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs	p.A195fs			Q9UHY1	NRBP_HUMAN			8	1416_1417	+	Acute lymphoblastic leukemia(172;0.155)		195			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Frame_Shift_Ins	INS	ENST00000233557.3	37	c.584_585insC	CCDS1753.1																																																																																				0.589	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		9	339						9	339	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31598344	31598345	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:31598344_31598345delCA	ENST00000379416.3	-	15	1551_1552	c.1503_1504delTG	c.(1501-1506)cctggtfs	p.G503fs		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	503					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	ACCATGCCACCAGGGGCATCGG	0.604																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(1501-1506)ccgtfs		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31598344_31598345delCA	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1503_1504delTG	2.37:g.31598344_31598345delCA	ENSP00000368727:p.Gly503fs						p.PG501fs	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			15	1551_1552	-	Acute lymphoblastic leukemia(172;0.155)		501					Q16681|Q16712|Q4PJ16	Frame_Shift_Del	DEL	ENST00000379416.3	37	c.1503_1504delTG	CCDS1775.1																																																																																				0.604	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		17	110						17	110	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48030796	48030797	+	Frame_Shift_Ins	INS	-	-	G	rs587781544		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:48030796_48030797insG	ENST00000234420.5	+	5	3562_3563	c.3410_3411insG	c.(3409-3414)atggggfs	p.MG1137fs	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Frame_Shift_Ins_p.MG1007fs|MSH6_ENST00000538136.1_Frame_Shift_Ins_p.MG835fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1137					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGACCAAATATGGGGGGCAAGT	0.376			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(3409-3411)aggfs	Mismatch excision repair (MMR)	mutS homolog 6																																				SO:0001589	frameshift_variant	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48030796_48030797insG	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3416dupG	2.37:g.48030802_48030802dupG	ENSP00000234420:p.Met1137fs					MSH6_ENST00000538136.1_Frame_Shift_Ins_p.R835fs|MSH6_ENST00000540021.1_Frame_Shift_Ins_p.R1007fs|FBXO11_ENST00000405808.1_Intron	p.R1137fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	3562_3563	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1137					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Frame_Shift_Ins	INS	ENST00000234420.5	37	c.3410_3411insG	CCDS1836.1																																																																																				0.376	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		8	1093						8	1093	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54167139	54167140	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:54167139_54167140insG	ENST00000404125.1	-	4	556		c.e4-2		PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4						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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.?(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAAA	0.347																																						ENST00000404125.1																			1	Unknown(1)	p.?(1)	ovary(1)	breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.e4-2		proteasome (prosome, macropain) activator subunit 4				37,4227		0,37,2095						5.7	1.0			82	25,8229		0,25,4102	no	splice-3	PSME4	NM_014614.2		0,62,6197	A1A1,A1R,RR		0.3029,0.8677,0.4953				62,12456				SO:0001630	splice_region_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54167139_54167140insG	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.501-2->C	2.37:g.54167147_54167147dupG						PSME4_ENST00000421748.2_Intron		NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		4	556	-								Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Splice_Site	INS	ENST00000404125.1	37		CCDS33197.2																																																																																				0.347	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	Intron	7	64						7	64	---	---	---	---
B3GNT2	10678	broad.mit.edu	37	2	62449597	62449598	+	Frame_Shift_Ins	INS	-	-	G	rs530600752	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:62449597_62449598insG	ENST00000301998.4	+	2	494_495	c.242_243insG	c.(241-246)acggggfs	p.TG81fs	B3GNT2_ENST00000405767.1_Frame_Shift_Ins_p.TG81fs	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	81					axon guidance (GO:0007411)|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)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.T81T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			ACCAACCAGACGGGGGAGGCGG	0.554																																						ENST00000301998.4																			1	Substitution - coding silent(1)	p.T81T(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(241-243)aggfs		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2																																				SO:0001589	frameshift_variant	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449597_62449598insG	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.247dupG	2.37:g.62449602_62449602dupG	ENSP00000305595:p.Thr81fs					B3GNT2_ENST00000405767.1_Frame_Shift_Ins_p.R81fs	p.R81fs	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	494_495	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		81					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Frame_Shift_Ins	INS	ENST00000301998.4	37	c.242_243insG	CCDS1870.1																																																																																				0.554	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		7	2316						7	2316	---	---	---	---
PLEK	5341	broad.mit.edu	37	2	68622886	68622887	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:68622886_68622887insC	ENST00000234313.7	+	9	1170_1171	c.991_992insC	c.(991-993)accfs	p.T331fs		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	331	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GCAAGCAGCCACCCCCAAGGAG	0.54																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(991-993)cccfs		pleckstrin																																				SO:0001589	frameshift_variant	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68622886_68622887insC	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.996dupC	2.37:g.68622891_68622891dupC	ENSP00000234313:p.Thr331fs						p.P331fs	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	9	1170_1171	+		Ovarian(717;0.0129)	331			PH 2.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Frame_Shift_Ins	INS	ENST00000234313.7	37	c.991_992insC	CCDS1887.1																																																																																				0.540	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		8	740						8	740	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)tccfs	p.S442fs	RNU6-1216P_ENST00000362590.2_RNA|RNA5SP96_ENST00000516041.1_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1324-1326)cccfs		anthrax toxin receptor 1																																				SO:0001589	frameshift_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409763_69409764insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1330dupC	2.37:g.69409769_69409769dupC	ENSP00000301945:p.Ser442fs						p.P442fs	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			16	1646_1647	+			442					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1324_1325insC	CCDS1892.1																																																																																				0.421	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		7	373						7	373	---	---	---	---
NAT8	9027	broad.mit.edu	37	2	73868515	73868516	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:73868515_73868516insT	ENST00000272425.3	-	2	389_390	c.240_241insA	c.(238-243)aaacccfs	p.P81fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TCCGTCCAGGGTTTTTTGGCAA	0.564																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(238-243)aacctgfs		N-acetyltransferase 8 (GCN5-related, putative)																																				SO:0001589	frameshift_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868515_73868516insT	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.241dupA	2.37:g.73868521_73868521dupT	ENSP00000272425:p.Pro81fs						p.NL80fs	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	389_390	-			80			N-acetyltransferase.			Frame_Shift_Ins	INS	ENST00000272425.3	37	c.240_241insA	CCDS1926.1																																																																																				0.564	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		16	1432						16	1432	---	---	---	---
NAT8	9027	broad.mit.edu	37	2	73868608	73868609	+	Frame_Shift_Ins	INS	-	-	C	rs201919330	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:73868608_73868609insC	ENST00000272425.3	-	2	296_297	c.147_148insG	c.(145-150)gggcccfs	p.P50fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AGGGCGAGGGGCCCCCCAAGTA	0.614																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(145-150)ggccctfs		N-acetyltransferase 8 (GCN5-related, putative)																																				SO:0001589	frameshift_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868608_73868609insC	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.148dupG	2.37:g.73868614_73868614dupC	ENSP00000272425:p.Pro50fs						p.GP49fs	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	296_297	-			49						Frame_Shift_Ins	INS	ENST00000272425.3	37	c.147_148insG	CCDS1926.1																																																																																				0.614	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		8	593						8	593	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:74480126_74480127insG	ENST00000377634.4	-	15	1641_1642	c.1242_1243insC	c.(1240-1245)cccaagfs	p.K415fs	SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.K351fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.K351fs|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_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_ENST00000346834.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_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			8	278						8	278	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.S902fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.S912fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.S882fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.S785fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.S899fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2752-2757)ccgcaafs		dynactin 1																																				SO:0001589	frameshift_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593376_74593377insG		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2755dupC	2.37:g.74593382_74593382dupG	ENSP00000354791:p.Ser919fs					DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR	p.Q919fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			23	3071_3072	-			919					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Frame_Shift_Ins	INS	ENST00000361874.3	37	c.2754_2755insC	CCDS1939.1																																																																																				0.559	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		7	621						7	621	---	---	---	---
MOGS	7841	broad.mit.edu	37	2	74690034	74690035	+	Frame_Shift_Ins	INS	-	-	G	rs184209905	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:74690034_74690035insG	ENST00000233616.4	-	4	1043_1044	c.881_882insC	c.(880-882)cctfs	p.P294fs	MOGS_ENST00000452063.2_Frame_Shift_Ins_p.P188fs|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	294					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGTAGCGTTCAGGGGGGGCCCC	0.584																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(880-882)cgafs		mannosyl-oligosaccharide glucosidase																																				SO:0001589	frameshift_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74690034_74690035insG	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.882dupC	2.37:g.74690041_74690041dupG	ENSP00000233616:p.Pro294fs					MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Frame_Shift_Ins_p.R188fs	p.R294fs	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1043_1044	-			294					A8K938|F5H6D0|Q17RN9|Q8TCT5	Frame_Shift_Ins	INS	ENST00000233616.4	37	c.881_882insC	CCDS42700.1																																																																																				0.584	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		7	389						7	389	---	---	---	---
PCGF1	84759	broad.mit.edu	37	2	74732899	74732900	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:74732899_74732900insG	ENST00000233630.6	-	6	1442		c.e6-2		LBX2-AS1_ENST00000603175.1_RNA|LBX2-AS1_ENST00000548978.2_RNA|LBX2_ENST00000550249.1_5'Flank|LBX2_ENST00000460508.3_5'Flank|PCGF1_ENST00000480844.2_Splice_Site|LBX2_ENST00000341396.2_5'Flank	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAATA	0.53																																						ENST00000233630.6																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						c.e6-2		polycomb group ring finger 1																																				SO:0001630	splice_region_variant	84759				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding	g.chr2:74732899_74732900insG	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.531-2->C	2.37:g.74732905_74732905dupG						PCGF1_ENST00000480844.2_Splice_Site		NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN			6	1442	-								Q7Z506	Splice_Site	INS	ENST00000233630.6	37		CCDS1946.2																																																																																				0.530	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673	Intron	16	1005						16	1005	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74906845	74906846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:74906845_74906846insC	ENST00000357877.2	+	14	1971_1972	c.1822_1823insC	c.(1822-1824)accfs	p.T608fs	SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.T453fs|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	608	Ig-like C2-type.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACTGCACTCACCCCCCGGCGG	0.629																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1822-1824)cccfs		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F																																				SO:0001589	frameshift_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74906845_74906846insC	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1828dupC	2.37:g.74906851_74906851dupC	ENSP00000350547:p.Thr608fs					SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.P453fs	p.P608fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			14	1971_1972	+			608			Ig-like C2-type.		Q542Y7|Q9NS35	Frame_Shift_Ins	INS	ENST00000357877.2	37	c.1822_1823insC	CCDS1955.1																																																																																				0.629	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		26	570						26	570	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(961-963)gggfs	p.G321fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.G293fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	321	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(958-963)ttggggfs		hexokinase 2																																				SO:0001589	frameshift_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75104377_75104378insG		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.966dupG	2.37:g.75104383_75104383dupG	ENSP00000290573:p.Gly321fs					HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	p.LG320fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			8	1560_1561	+			320			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Frame_Shift_Ins	INS	ENST00000290573.2	37	c.960_961insG	CCDS1956.1																																																																																				0.545	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		29	1510						29	1510	---	---	---	---
TCF7L1	83439	broad.mit.edu	37	2	85536195	85536196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:85536195_85536196insC	ENST00000282111.3	+	12	1652_1653	c.1377_1378insC	c.(1378-1380)cccfs	p.P460fs		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	460					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TTCAGTACCTGCCCCCCGAGAA	0.614																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1375-1380)ctccccfs		transcription factor 7-like 1 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85536195_85536196insC	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1383dupC	2.37:g.85536201_85536201dupC	ENSP00000282111:p.Pro460fs						p.LP459fs	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			12	1652_1653	+			459					Q53R97|Q6PD70|Q9NP00	Frame_Shift_Ins	INS	ENST00000282111.3	37	c.1377_1378insC	CCDS1971.1																																																																																				0.614	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		11	290						11	290	---	---	---	---
USP39	10713	broad.mit.edu	37	2	85863227	85863228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:85863227_85863228insG	ENST00000323701.6	+	7	1011_1012	c.1001_1002insG	c.(1000-1005)ctggggfs	p.LG334fs	USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.LG231fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.LG334fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	334	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CACTCAGCTCTGGGGGGCACAA	0.416																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(1000-1002)cggfs		ubiquitin specific peptidase 39																																				SO:0001589	frameshift_variant	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85863227_85863228insG	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1007dupG	2.37:g.85863233_85863233dupG	ENSP00000312981:p.Leu334fs					USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs	p.R334fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN			7	1011_1012	+			334					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Frame_Shift_Ins	INS	ENST00000323701.6	37	c.1001_1002insG	CCDS33234.1																																																																																				0.416	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		7	457						7	457	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			645784							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	6						3	6	---	---	---	---
ANKRD23	200539	broad.mit.edu	37	2	97507820	97507821	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:97507820_97507821insG	ENST00000318357.4	-	3	317_318	c.276_277insC	c.(274-279)cccaggfs	p.R93fs	ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.R93fs|ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.R93fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	93					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACTC	0.53																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(274-279)ccggaafs		ankyrin repeat domain 23				3,4263		0,3,2130						4.5	1.0			89	6,8248		0,6,4121	no	frameshift	ANKRD23	NM_144994.7		0,9,6251	A1A1,A1R,RR		0.0727,0.0703,0.0719				9,12511				SO:0001589	frameshift_variant	200539					nucleus		g.chr2:97507820_97507821insG		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.277dupC	2.37:g.97507827_97507827dupG	ENSP00000321679:p.Arg93fs					ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.E93fs|ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.E93fs	p.E93fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN			3	317_318	-			93					Q711K7|Q8NAJ7	Frame_Shift_Ins	INS	ENST00000318357.4	37	c.276_277insC	CCDS2027.1																																																																																				0.530	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		7	230						7	230	---	---	---	---
MFSD9	84804	broad.mit.edu	37	2	103334977	103334978	+	Frame_Shift_Ins	INS	-	-	G	rs145424077	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:103334977_103334978insG	ENST00000258436.5	-	6	1369_1370	c.1326_1327insC	c.(1324-1329)cccagcfs	p.S443fs	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	443					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GCGCCCAGGCTGGGGGGGCCGC	0.554																																						ENST00000258436.5																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(1324-1329)ccgcctfs		major facilitator superfamily domain containing 9																																				SO:0001589	frameshift_variant	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103334977_103334978insG		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.1327dupC	2.37:g.103334984_103334984dupG	ENSP00000258436:p.Ser443fs						p.P443fs	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN			6	1369_1370	-			443					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Frame_Shift_Ins	INS	ENST00000258436.5	37	c.1326_1327insC	CCDS2063.1																																																																																				0.554	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		9	84						9	84	---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:109539836_109539837insG	ENST00000258443.2	-	5	859_860	c.429_430insC	c.(427-432)cccaacfs	p.N144fs	EDAR_ENST00000376651.1_Frame_Shift_Ins_p.N144fs|EDAR_ENST00000409271.1_Frame_Shift_Ins_p.N144fs	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(427-432)ccacacfs		ectodysplasin A receptor																																				SO:0001589	frameshift_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109539836_109539837insG	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.430dupC	2.37:g.109539842_109539842dupG	ENSP00000258443:p.Asn144fs					EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs	p.H144fs			Q9UNE0	EDAR_HUMAN			6	872_873	-			144					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Frame_Shift_Ins	INS	ENST00000258443.2	37	c.429_430insC	CCDS2081.1																																																																																				0.535	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			12	436						12	436	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128467384	128467385	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:128467384_128467385insG	ENST00000322313.4	-	19	3512_3513	c.3354_3355insC	c.(3352-3357)cccagafs	p.R1119fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1119					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCCTTCCTCTGGGGGGAGCAC	0.545																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3352-3357)ccgaggfs		WD repeat domain 33																																				SO:0001589	frameshift_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128467384_128467385insG		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3355dupC	2.37:g.128467390_128467390dupG	ENSP00000325377:p.Arg1119fs						p.R1119fs	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	19	3512_3513	-	Colorectal(110;0.1)		1119					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Ins	INS	ENST00000322313.4	37	c.3354_3355insC	CCDS2150.1																																																																																				0.545	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		8	1102						8	1102	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135740765	135740766	+	Intron	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:135740765_135740766insC	ENST00000375845.3	-	8	3253				MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Frame_Shift_Ins_p.V1137fs|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392917.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19								ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										ttcatcgcccaccccCCAAGAT	0.376																																						ENST00000392915.1																			0											c.(3409-3411)gggfs		mitogen-activated protein kinase kinase kinase 19																																				SO:0001627	intron_variant	80122							g.chr2:135740765_135740766insC	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3222+479->G	2.37:g.135740771_135740771dupC						MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron	p.G1137fs							9	3528_3529	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Frame_Shift_Ins	INS	ENST00000375845.3	37	c.3409_3410insG	CCDS2176.2																																																																																				0.376	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		9	270						9	270	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2053-2058)acggggfs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099957_168099958insG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2062dupG	2.37:g.168099964_168099964dupG	ENSP00000386840:p.Gly686fs					XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409043.1_Intron	p.TG685fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2144_2145	+			510					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.2055_2056insG	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		12	241						12	241	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	409	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1249-1254)aaccccfs		myosin IIIB																																				SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240258_171240259insC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1231dupC	2.37:g.171240265_171240265dupC	ENSP00000386213:p.Pro409fs					MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs	p.NP417fs			Q8WXR4	MYO3B_HUMAN			12	1251_1252	+			408			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	37	c.1251_1252insC	CCDS42773.1																																																																																				0.465	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			16	363						16	363	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179398169	179398170	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:179398169_179398170insG	ENST00000591111.1	-	308	98473_98474	c.98249_98250insC	c.(98248-98250)ccafs	p.P32750fs	TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.P25451fs|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.P34391fs|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P25326fs|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P25518fs|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P31823fs|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32750	Ig-like 145.				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)			TTAATGTTGGTGGGGGGATGCC	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.(103171-103173)cccfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398169_179398170insG	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.98250dupC	2.37:g.179398175_179398175dupG	ENSP00000465570:p.Pro32750fs					TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.P25451fs|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P31823fs|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P25518fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P25326fs|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.P32750fs	p.P34391fs	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)		358	103396_103397	-			32750					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.103172_103173insC																																																																																					0.460	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	391						10	391	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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					NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.P206fs	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1073_1074	-			206					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	c.616_617insC	CCDS2283.1																																																																																				0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		28	594						28	594	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs					ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA	p.G559fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		16	415						16	415	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197171262	197171263	+	Frame_Shift_Ins	INS	-	-	G	rs144884935	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:197171262_197171263insG	ENST00000260983.3	-	13	2945_2946	c.2763_2764insC	c.(2761-2766)cccgtgfs	p.V922fs	HECW2_ENST00000409111.1_Frame_Shift_Ins_p.V566fs	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	922	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGAACTTCACGGGGGGAGACT	0.53																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2761-2766)cctgaafs		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197171262_197171263insG	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2764dupC	2.37:g.197171268_197171268dupG	ENSP00000260983:p.Val922fs					HECW2_ENST00000409111.1_Frame_Shift_Ins_p.E566fs	p.E922fs	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			13	2945_2946	-			922			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Frame_Shift_Ins	INS	ENST00000260983.3	37	c.2763_2764insC	CCDS33354.1																																																																																				0.530	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		10	574						10	574	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202588159	202588160	+	Frame_Shift_Ins	INS	-	-	C	rs41309046	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:202588159_202588160insC	ENST00000264276.6	-	22	3889_3890	c.3517_3518insG	c.(3517-3519)gaafs	p.E1173fs	ALS2_ENST00000457679.2_Frame_Shift_Ins_p.E485fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1173					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATATACTTTTCCCCCCTGCAC	0.406																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(3517-3519)aaafs		amyotrophic lateral sclerosis 2 (juvenile)																																				SO:0001589	frameshift_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202588159_202588160insC	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3518dupG	2.37:g.202588165_202588165dupC	ENSP00000264276:p.Glu1173fs					ALS2_ENST00000457679.2_Frame_Shift_Ins_p.K485fs	p.K1173fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			22	3889_3890	-			1173					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Frame_Shift_Ins	INS	ENST00000264276.6	37	c.3517_3518insG	CCDS42800.1																																																																																				0.406	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		8	431						8	431	---	---	---	---
GPR1	2825	broad.mit.edu	37	2	207041591	207041592	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		10	404						10	404	---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219529513	219529514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:219529513_219529514insC	ENST00000295704.2	-	9	1189_1190	c.749_750insG	c.(748-750)ggafs	p.G250fs		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	250					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I251fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAATGATTCCCCCCCGCTC	0.564																																						ENST00000295704.2																			1	Insertion - Frameshift(1)	p.I251fs*3(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(748-750)gatfs		ring finger protein 25																																				SO:0001589	frameshift_variant	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529513_219529514insC		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.750dupG	2.37:g.219529520_219529520dupC	ENSP00000295704:p.Gly250fs						p.D250fs	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1189_1190	-		Renal(207;0.0474)	250					A8K0D6|Q53HQ5|Q9H874	Frame_Shift_Ins	INS	ENST00000295704.2	37	c.749_750insG	CCDS2420.1																																																																																				0.564	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		9	308						9	308	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219883882	219883883	+	Frame_Shift_Ins	INS	-	-	G	rs568903495|rs189561241	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:219883882_219883883insG	ENST00000341552.5	-	21	3575_3576	c.3492_3493insC	c.(3490-3495)cccgtcfs	p.V1165fs	CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.V1165fs|CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.V1165fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1165						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTGAGGACGGGGGGGATCT	0.614																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3490-3495)cctcctfs		coiled-coil domain containing 108				4,4248		0,4,2122						-2.8	0.0			53	5,8229		0,5,4112	no	frameshift	CCDC108	NM_194302.2		0,9,6234	A1A1,A1R,RR		0.0607,0.0941,0.0721				9,12477				SO:0001589	frameshift_variant	255101					integral to membrane	structural molecule activity	g.chr2:219883882_219883883insG	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3493dupC	2.37:g.219883889_219883889dupG	ENSP00000340776:p.Val1165fs					CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.P1165fs|CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.P1165fs	p.P1165fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	21	3575_3576	-		Renal(207;0.0915)	1165					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Ins	INS	ENST00000341552.5	37	c.3492_3493insC	CCDS2430.2																																																																																				0.614	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		7	92						7	92	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-942)tgccccfs	p.CP313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCAGTGCCATGCCCCCCCAAGG	0.619																																						ENST00000272907.6																			0											c.(937-939)tccfs		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2																																				SO:0001589	frameshift_variant	57624							g.chr2:226447071_226447072insC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.945dupC	2.37:g.226447078_226447078dupC	ENSP00000272907:p.Cys313fs					NYAP2_ENST00000409269.2_Intron	p.S313fs	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1351_1352	+			313			Pro-rich.		A2RRN4|Q96NL2	Frame_Shift_Ins	INS	ENST00000272907.6	37	c.938_939insC	CCDS46529.1																																																																																				0.619	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		13	220						13	220	---	---	---	---
ATG16L1	55054	broad.mit.edu	37	2	234171866	234171866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:234171866delC	ENST00000392017.4	+	3	557	c.300delC	c.(298-300)cacfs	p.H100fs	ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392020.4_Frame_Shift_Del_p.H100fs|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392018.1_Frame_Shift_Del_p.H100fs	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	100					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		CTGAATTACACAAGAAACGTG	0.502																																						ENST00000392017.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25						c.(298-300)cafs		autophagy related 16-like 1 (S. cerevisiae)							138.0	106.0	117.0					2																	234171866		2203	4300	6503	SO:0001589	frameshift_variant	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234171866delC	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.300delC	2.37:g.234171866delC	ENSP00000375872:p.His100fs					ATG16L1_ENST00000392020.4_Frame_Shift_Del_p.H100fs|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392018.1_Frame_Shift_Del_p.H100fs|ATG16L1_ENST00000347464.5_Intron	p.H100fs	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	3	557	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	100					A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Frame_Shift_Del	DEL	ENST00000392017.4	37	c.300delC	CCDS2503.2																																																																																				0.502	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		10	44						10	44	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs					NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		21	370						21	370	---	---	---	---
PPP1R7	5510	broad.mit.edu	37	2	242092998	242092999	+	Frame_Shift_Ins	INS	-	-	G	rs140300724|rs372463197		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:242092998_242092999insG	ENST00000234038.6	+	2	634_635	c.160_161insG	c.(160-162)cggfs	p.R54fs	PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000407025.1_Frame_Shift_Ins_p.R54fs|PPP1R7_ENST00000404405.3_Frame_Shift_Ins_p.R54fs|PPP1R7_ENST00000406106.3_Frame_Shift_Ins_p.R54fs|PPP1R7_ENST00000402734.1_Intron	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	54					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TGGGGAGGAGCGGGGGGAGGAG	0.629																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(160-162)gggfs		protein phosphatase 1, regulatory subunit 7																																				SO:0001589	frameshift_variant	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242092998_242092999insG	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.166dupG	2.37:g.242093004_242093004dupG	ENSP00000234038:p.Arg54fs					PPP1R7_ENST00000406106.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000404405.3_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000407025.1_Frame_Shift_Ins_p.G54fs|PPP1R7_ENST00000272983.8_Intron	p.G54fs	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	2	634_635	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	54					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Frame_Shift_Ins	INS	ENST00000234038.6	37	c.160_161insG	CCDS2546.1																																																																																				0.629	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		8	424						8	424	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gtgfs	p.V850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.V826fs	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2548-2550)gatfs		SLIT-ROBO Rho GTPase activating protein 3																																				SO:0001589	frameshift_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9034599_9034600insC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2549dupG	3.37:g.9034606_9034606dupC	ENSP00000373347:p.Val850fs					SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	p.D850fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	20	2975_2976	-			850					Q8IX13|Q8IZV8	Frame_Shift_Ins	INS	ENST00000383836.3	37	c.2548_2549insG	CCDS2572.1																																																																																				0.554	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			11	81						11	81	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10188268	10188269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:10188268_10188269insC	ENST00000256474.2	+	2	1251_1252	c.411_412insC	c.(412-414)ccafs	p.P138fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	138	Involved in binding to CCT complex.				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.P138fs*1(2)		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)		AATTATTTGTGCCATCTCTCAA	0.421		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"""		2	Deletion - Frameshift(2)	p.P138fs*1(2)	kidney(2)	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.(409-414)gtcatcfs		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase																																				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.chr3:10188268_10188269insC	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.413dupC	3.37:g.10188270_10188270dupC	ENSP00000256474:p.Pro138fs					VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	p.I138fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1251_1252	+			138			Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	c.411_412insC	CCDS2597.1																																																																																				0.421	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		78	139						78	139	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10312538	10312539	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:10312538_10312539insG	ENST00000287652.4	+	4	2723_2724	c.1672_1673insG	c.(1672-1674)tggfs	p.W558fs	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.W558fs	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	558					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGATCTGGTCTGGGGGGCCTTT	0.505																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1672-1674)gggfs		TatD DNase domain containing 2																																				SO:0001589	frameshift_variant	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312538_10312539insG	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1678dupG	3.37:g.10312544_10312544dupG	ENSP00000287652:p.Trp558fs					RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.G558fs	p.G558fs	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			4	2723_2724	+			558					Q3MIL9|Q5BKU0	Frame_Shift_Ins	INS	ENST00000287652.4	37	c.1672_1673insG	CCDS33698.1																																																																																				0.505	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		10	940						10	940	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14538073	14538073	+	RNA	DEL	A	A	-	rs11333211	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:14538073delA	ENST00000273083.3	-	0	2744							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGATGCCTGCAAGGAACACGG	0.607													A|AA|A|insertion	2914	0.581869	0.5598	0.5749	5008	,	,		21109	0.6458		0.4006	False		,,,				2504	0.7372					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2				2072,1830		611,850,490	16.0	20.0	18.0			-9.8	0.0	3	dbSNP_131	28	3411,4601		756,1899,1351	no	intron	GRIP2	NM_001080423.2		1367,2749,1841	A1A1,A1R,RR		42.5736,46.899,46.0215			14538073	5483,6431	1773	3875	5648			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14538073delA	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14538073delA										Q9C0E4	GRIP2_HUMAN			0	2744	-								Q8TEH9|Q9H7H3	RNA	DEL	ENST00000273083.3	37																																																																																						0.607	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		8	146						8	146	---	---	---	---
VILL	50853	broad.mit.edu	37	3	38043303	38043304	+	Frame_Shift_Ins	INS	-	-	C	rs374442833		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:38043303_38043304insC	ENST00000283713.6	+	13	1697_1698	c.1431_1432insC	c.(1432-1434)cccfs	p.P478fs	VILL_ENST00000383759.2_Frame_Shift_Ins_p.P478fs|VILL_ENST00000465644.1_Frame_Shift_Ins_p.P196fs			O15195	VILL_HUMAN	villin-like	478					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.H480fs*38(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGGCAGCGAGCCCCCCCACTT	0.594																																						ENST00000283713.6																			1	Insertion - Frameshift(1)	p.H480fs*38(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(1429-1434)gaccccfs		villin-like				6,4260		0,6,2127						5.0	1.0			127	3,8251		0,3,4124	no	frameshift	VILL	NM_015873.3		0,9,6251	A1A1,A1R,RR		0.0363,0.1406,0.0719				9,12511				SO:0001589	frameshift_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38043303_38043304insC		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1438dupC	3.37:g.38043310_38043310dupC	ENSP00000283713:p.Pro478fs					VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs|VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs	p.DP477fs			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	13	1697_1698	+			477					A8MZP1|Q9BT80|Q9BWH7	Frame_Shift_Ins	INS	ENST00000283713.6	37	c.1431_1432insC	CCDS2670.2																																																																																				0.594	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		10	139						10	139	---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42242449	42242450	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:42242449_42242450insC	ENST00000327628.5	+	12	1730_1731	c.1330_1331insC	c.(1330-1332)accfs	p.T444fs	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Frame_Shift_Ins_p.T370fs|TRAK1_ENST00000341421.3_Frame_Shift_Ins_p.T386fs|TRAK1_ENST00000396175.1_Frame_Shift_Ins_p.T386fs	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	444	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGCGTCAGCACCCCCCGGTCC	0.594																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1330-1332)cccfs		trafficking protein, kinesin binding 1																																				SO:0001589	frameshift_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42242449_42242450insC		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1336dupC	3.37:g.42242455_42242455dupC	ENSP00000328998:p.Thr444fs					TRAK1_ENST00000396175.1_Frame_Shift_Ins_p.P386fs|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Frame_Shift_Ins_p.P386fs|TRAK1_ENST00000449246.1_Frame_Shift_Ins_p.P370fs	p.P444fs	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			12	1730_1731	+			444			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Frame_Shift_Ins	INS	ENST00000327628.5	37	c.1330_1331insC	CCDS43072.1																																																																																				0.594	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		7	540						7	540	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)aggfs	p.R96fs	RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495																																						ENST00000266022.4																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(286-288)gggfs		RNA binding motif protein 6																																				SO:0001589	frameshift_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005144_50005145insG	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.293dupG	3.37:g.50005151_50005151dupG	ENSP00000266022:p.Arg96fs					RBM6_ENST00000539992.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000422955.1_Intron	p.G96fs	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	545_546	+			96					O60549|O75524|Q86SS3	Frame_Shift_Ins	INS	ENST00000266022.4	37	c.286_287insG	CCDS2809.1																																																																																				0.495	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		11	142						11	142	---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52962211	52962212	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:52962211_52962212insG	ENST00000394752.3	-	9	1425_1426	c.1043_1044insC	c.(1042-1044)cctfs	p.P348fs	SFMBT1_ENST00000358080.2_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000296295.6_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000394750.1_Frame_Shift_Ins_p.P348fs	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	348					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GTGCACCTGGAGGGGGGCTGAT	0.53																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(1042-1044)cccfs		Scm-like with four mbt domains 1																																				SO:0001589	frameshift_variant	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52962211_52962212insG	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1044dupC	3.37:g.52962217_52962217dupG	ENSP00000378235:p.Pro348fs					SFMBT1_ENST00000296295.6_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000394750.1_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000358080.2_Frame_Shift_Ins_p.P348fs	p.P348fs	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	9	1425_1426	-			348					Q402F7|Q96C73|Q9Y4Q9	Frame_Shift_Ins	INS	ENST00000394752.3	37	c.1043_1044insC	CCDS2867.1																																																																																				0.530	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		8	474						8	474	---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:53898813_53898814insC	ENST00000288167.3	+	11	996_997	c.987_988insC	c.(988-990)cccfs	p.P330fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	330					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(985-990)ctccccfs		interleukin 17 receptor B																																				SO:0001589	frameshift_variant	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53898813_53898814insC	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.993dupC	3.37:g.53898819_53898819dupC	ENSP00000288167:p.Pro330fs						p.LP329fs	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	11	996_997	+			329					Q9BPZ0|Q9NRL4|Q9NRM5	Frame_Shift_Ins	INS	ENST00000288167.3	37	c.987_988insC	CCDS2874.1																																																																																				0.406	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		7	799						7	799	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000404589.3_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_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR	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		10	194						10	194	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62459994	62459995	+	Splice_Site	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:62459994_62459995insA	ENST00000383710.4	-	24	3679_3680	c.3330_3331insT	c.(3328-3333)agaacc>agaTacc	p.T1111fs	CADPS_ENST00000357948.3_Splice_Site_p.T1032fs|CADPS_ENST00000283269.9_Splice_Site_p.T1072fs	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1111	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCAATCCTGGTTCTATTAAAAC	0.396																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.e24-1		Ca++-dependent secretion activator																																				SO:0001630	splice_region_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62459994_62459995insA	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3330-1->T	3.37:g.62459994_62459995insA						CADPS_ENST00000357948.3_Splice_Site_p.Q1032_splice|CADPS_ENST00000283269.9_Splice_Site_p.Q1072_splice	p.Q1111_splice	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	24	3679_3680	-		Lung SC(41;0.0452)	1111			Interaction with DRD2.|MHD1.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Splice_Site	INS	ENST00000383710.4	37	c.3329_splice	CCDS46858.1																																																																																				0.396	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	Frame_Shift_Ins	24	144						24	144	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggafs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(493-495)ggtfs		vestigial like 3 (Drosophila)																																				SO:0001589	frameshift_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018182_87018183insC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.495dupG	3.37:g.87018188_87018188dupC	ENSP00000381436:p.Gly165fs					VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	857_858	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	165						Frame_Shift_Ins	INS	ENST00000398399.2	37	c.494_495insG	CCDS43110.1																																																																																				0.579	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		9	325						9	325	---	---	---	---
CPOX	1371	broad.mit.edu	37	3	98304318	98304319	+	Frame_Shift_Ins	INS	-	-	G	rs201231166		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:98304318_98304319insG	ENST00000264193.2	-	5	1356_1357	c.1138_1139insC	c.(1138-1140)cagfs	p.Q380fs		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	380					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGCTTCTCCTGGGGGGTGAAT	0.5																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16	GRCh37	CD011866	CPOX	D		c.(1138-1140)ggafs		coproporphyrinogen oxidase																																				SO:0001589	frameshift_variant	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98304318_98304319insG	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.1139dupC	3.37:g.98304324_98304324dupG	ENSP00000264193:p.Gln380fs						p.G380fs	NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN			5	1356_1357	-			380					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Frame_Shift_Ins	INS	ENST00000264193.2	37	c.1138_1139insC	CCDS2932.1																																																																																				0.500	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		10	565						10	565	---	---	---	---
TAGLN3	29114	broad.mit.edu	37	3	111718404	111718405	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:111718404_111718405insC	ENST00000393917.2	+	2	687_688	c.135_136insC	c.(136-138)cccfs	p.P46fs	TAGLN3_ENST00000478951.1_Frame_Shift_Ins_p.P46fs|TAGLN3_ENST00000486460.1_5'Flank|TAGLN3_ENST00000273368.4_Frame_Shift_Ins_p.P46fs|TAGLN3_ENST00000455401.2_Frame_Shift_Ins_p.P46fs	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	46	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						TAGAGCACCCGCCCCCCGGCAG	0.614																																						ENST00000393917.2																			0				endometrium(2)|lung(5)|urinary_tract(1)	8						c.(133-138)ccccccfs		transgelin 3																																				SO:0001589	frameshift_variant	29114				central nervous system development|muscle organ development			g.chr3:111718404_111718405insC	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.141dupC	3.37:g.111718410_111718410dupC	ENSP00000377494:p.Pro46fs					TAGLN3_ENST00000455401.2_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000478951.1_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000273368.4_Frame_Shift_Ins_p.PP45fs	p.PP45fs	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN			2	687_688	+			45			CH.		D3DN64|Q96A74	Frame_Shift_Ins	INS	ENST00000393917.2	37	c.135_136insC	CCDS33816.1																																																																																				0.614	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		9	168						9	168	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118647520	118647521	+	Frame_Shift_Ins	INS	-	-	G	rs145433873		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:118647520_118647521insG	ENST00000393775.2	-	3	564_565	c.259_260insC	c.(259-261)cggfs	p.R87fs	IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.R87fs|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.R87fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.R86fs|IGSF11_ENST00000354673.2_Frame_Shift_Ins_p.R86fs|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.R86fs|IGSF11_ENST00000459718.1_5'UTR	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	87	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGGAACCGGGGGGCACCA	0.465																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(256-258)gttfs		immunoglobulin superfamily, member 11																																				SO:0001589	frameshift_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118647520_118647521insG	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.260dupC	3.37:g.118647526_118647526dupG	ENSP00000377370:p.Arg87fs					IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs	p.V86fs	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			5	636_637	-			87			Ig-like V-type.		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Frame_Shift_Ins	INS	ENST00000393775.2	37	c.256_257insC	CCDS46891.1																																																																																				0.465	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			8	208						8	208	---	---	---	---
GPR156	165829	broad.mit.edu	37	3	119885959	119885960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:119885959_119885960insC	ENST00000464295.1	-	10	2809_2810	c.2364_2365insG	c.(2362-2367)gggctgfs	p.L789fs	GPR156_ENST00000315843.3_Frame_Shift_Ins_p.L789fs|GPR156_ENST00000461057.1_Frame_Shift_Ins_p.L785fs			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	789						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGGAAGCCAGCCCCCCAGTAG	0.55																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(2362-2367)ggtggcfs		G protein-coupled receptor 156																																				SO:0001589	frameshift_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119885959_119885960insC	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2365dupG	3.37:g.119885965_119885965dupC	ENSP00000417261:p.Leu789fs					GPR156_ENST00000461057.1_Frame_Shift_Ins_p.G785fs|GPR156_ENST00000315843.3_Frame_Shift_Ins_p.G789fs	p.G789fs			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	2809_2810	-			789					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Frame_Shift_Ins	INS	ENST00000464295.1	37	c.2364_2365insG	CCDS2997.1																																																																																				0.550	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		13	553						13	553	---	---	---	---
GPR156	165829	broad.mit.edu	37	3	119900210	119900211	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:119900210_119900211insG	ENST00000464295.1	-	8	1142		c.e8-2		GPR156_ENST00000315843.3_Splice_Site|GPR156_ENST00000461057.1_Splice_Site			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GAGCAGACCCTGGGGGGTGAAG	0.515																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.e8-2		G protein-coupled receptor 156																																				SO:0001630	splice_region_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119900210_119900211insG	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.697-2->C	3.37:g.119900216_119900216dupG						GPR156_ENST00000461057.1_Splice_Site|GPR156_ENST00000315843.3_Splice_Site				Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	8	1142	-								B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Splice_Site	INS	ENST00000464295.1	37		CCDS2997.1																																																																																				0.515	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	Intron	7	262						7	262	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	-	G	rs41431347|rs200371896	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:123368043_123368044insG	ENST00000475616.1	-	22	4288		c.e22-2		MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000360772.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site			Q15746	MYLK_HUMAN	myosin light chain kinase						actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													?|GGGGGGGG|GGGGGGGGG|unsure	129	0.0257588	0.034	0.0303	5008	,	,		18148	0.0089		0.0348	False		,,,				2504	0.0194					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.e26-2		myosin light chain kinase																																				SO:0001630	splice_region_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123368043_123368044insG	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4289-2->C	3.37:g.123368051_123368051dupG						MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000475616.1_Splice_Site				Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	26	4667	-		Lung NSC(201;0.0496)						B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Splice_Site	INS	ENST00000475616.1	37		CCDS46896.1																																																																																				0.624	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	Intron	10	109						10	109	---	---	---	---
ZXDC	79364	broad.mit.edu	37	3	126180565	126180566	+	Frame_Shift_Ins	INS	-	-	G	rs201583972	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:126180565_126180566insG	ENST00000389709.3	-	6	1992_1993	c.1939_1940insC	c.(1939-1941)cgafs	p.R647fs	ZXDC_ENST00000336332.5_Frame_Shift_Ins_p.R647fs	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	647	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGCATTTTCTCGGGGGGTGCTC	0.579																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1939-1941)agafs		ZXD family zinc finger C																																				SO:0001589	frameshift_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126180565_126180566insG	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1940dupC	3.37:g.126180571_126180571dupG	ENSP00000374359:p.Arg647fs					ZXDC_ENST00000336332.5_Frame_Shift_Ins_p.R647fs	p.R647fs	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	6	1992_1993	-			647			Required for transcriptional activation.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Frame_Shift_Ins	INS	ENST00000389709.3	37	c.1939_1940insC	CCDS43145.1																																																																																				0.579	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		7	407						7	407	---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129183576	129183577	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:129183576_129183577insG	ENST00000348417.2	+	7	592_593	c.515_516insG	c.(514-519)ccggggfs	p.PG172fs	IFT122_ENST00000504021.1_Frame_Shift_Ins_p.PG125fs|IFT122_ENST00000296266.3_Frame_Shift_Ins_p.PG223fs|IFT122_ENST00000431818.2_Frame_Shift_Ins_p.PG22fs|IFT122_ENST00000349441.2_Frame_Shift_Ins_p.PG120fs|IFT122_ENST00000507564.1_Frame_Shift_Ins_p.PG223fs|IFT122_ENST00000440957.2_Frame_Shift_Ins_p.PG22fs|IFT122_ENST00000347300.2_Frame_Shift_Ins_p.PG172fs	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	172					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.P223P(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATCGAGCGGCCGGGGGGCTCCC	0.505																																						ENST00000296266.3																			1	Substitution - coding silent(1)	p.P223P(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(667-669)cggfs		intraflagellar transport 122 homolog (Chlamydomonas)																																				SO:0001589	frameshift_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129183576_129183577insG	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.521dupG	3.37:g.129183582_129183582dupG	ENSP00000324005:p.Pro172fs					IFT122_ENST00000440957.2_Frame_Shift_Ins_p.R22fs|IFT122_ENST00000349441.2_Frame_Shift_Ins_p.R120fs|IFT122_ENST00000348417.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000347300.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000507564.1_Frame_Shift_Ins_p.R223fs|IFT122_ENST00000504021.1_Frame_Shift_Ins_p.R125fs|IFT122_ENST00000431818.2_Frame_Shift_Ins_p.R22fs	p.R223fs	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			8	860_861	+			172					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Frame_Shift_Ins	INS	ENST00000348417.2	37	c.668_669insG	CCDS3061.1																																																																																				0.505	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		8	324						8	324	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129324871	129324872	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:129324871_129324872insC	ENST00000324093.4	-	1	789_790	c.611_612insG	c.(610-612)ggcfs	p.G204fs	PLXND1_ENST00000393239.1_Frame_Shift_Ins_p.G204fs	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	204	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCAGGCGGCTgccccccgcgcc	0.708																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(610-612)gagfs		plexin D1																																				SO:0001589	frameshift_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129324871_129324872insC	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.612dupG	3.37:g.129324877_129324877dupC	ENSP00000317128:p.Gly204fs					PLXND1_ENST00000324093.4_Frame_Shift_Ins_p.E204fs	p.E204fs			Q9Y4D7	PLXD1_HUMAN			1	789_790	-			204			Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Frame_Shift_Ins	INS	ENST00000324093.4	37	c.611_612insG	CCDS33854.1																																																																																				0.708	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		2	4						2	4	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130281934	130281935	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:130281934_130281935insT	ENST00000358511.6	+	2	118_119	c.87_88insT	c.(88-90)tttfs	p.F30fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.F30fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	30	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGATGTTGTGTTTTTGGTGGA	0.431																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(85-90)gtttttfs		collagen, type VI, alpha 6																																				SO:0001589	frameshift_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130281934_130281935insT	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.92dupT	3.37:g.130281939_130281939dupT	ENSP00000351310:p.Phe30fs					COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.VF29fs	p.VF29fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			2	118_119	+			29			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Ins	INS	ENST00000358511.6	37	c.87_88insT	CCDS46911.1																																																																																				0.431	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		8	723						8	723	---	---	---	---
TF	7018	broad.mit.edu	37	3	133476713	133476714	+	Frame_Shift_Ins	INS	-	-	C	rs148358704		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:133476713_133476714insC	ENST00000402696.3	+	8	1456_1457	c.971_972insC	c.(970-975)gtccccfs	p.VP324fs	TF_ENST00000264998.3_Frame_Shift_Ins_p.VP197fs	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	324	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TTTTTAAAAGTCCCCCCCAGGA	0.485																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(970-972)gccfs		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)																																			SO:0001589	frameshift_variant	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133476713_133476714insC		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.978dupC	3.37:g.133476720_133476720dupC	ENSP00000385834:p.Val324fs					TF_ENST00000264998.3_Frame_Shift_Ins_p.A197fs	p.A324fs	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			8	1456_1457	+			324			Transferrin-like 1.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Frame_Shift_Ins	INS	ENST00000402696.3	37	c.971_972insC	CCDS3080.1																																																																																				0.485	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		7	204						7	204	---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136141378	136141379	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:136141378_136141379delAC	ENST00000383202.2	-	19	2166_2167	c.1910_1911delGT	c.(1909-1911)agtfs	p.S637fs	STAG1_ENST00000434713.2_Frame_Shift_Del_p.S411fs|STAG1_ENST00000236698.5_Frame_Shift_Del_p.S637fs|STAG1_ENST00000536929.1_Frame_Shift_Del_p.S221fs	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	637					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TATAGGTTTTACTGCAGGCTTC	0.371																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1909-1911)afs		stromal antigen 1																																				SO:0001589	frameshift_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136141378_136141379delAC	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1910_1911delGT	3.37:g.136141378_136141379delAC	ENSP00000372689:p.Ser637fs					STAG1_ENST00000434713.2_Frame_Shift_Del_p.S411fs|STAG1_ENST00000236698.5_Frame_Shift_Del_p.S637fs|STAG1_ENST00000536929.1_Frame_Shift_Del_p.S221fs	p.S637fs	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			19	2166_2167	-			637					O00539|Q6P275	Frame_Shift_Del	DEL	ENST00000383202.2	37	c.1910_1911delGT	CCDS3090.1																																																																																				0.371	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		33	108						33	108	---	---	---	---
LOC100507291	100507291	broad.mit.edu	37	3	139212981	139212982	+	RNA	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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			7	117						7	117	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.46																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.R493L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1477-1479)gggfs		G protein-coupled receptor kinase 7																																				SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535707_141535708insG		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1483dupG	3.37:g.141535713_141535713dupG	ENSP00000264952:p.Arg493fs						p.G493fs	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			4	1614_1615	+			493			AGC-kinase C-terminal.			Frame_Shift_Ins	INS	ENST00000264952.2	37	c.1477_1478insG	CCDS3120.1																																																																																				0.460	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		15	794						15	794	---	---	---	---
KPNA4	3840	broad.mit.edu	37	3	160245789	160245789	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:160245789delG	ENST00000334256.4	-	8	813	c.508delC	c.(508-510)catfs	p.H170fs		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	170	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACATTCTGATGGGGTGAATGG	0.348																																						ENST00000334256.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22						c.(508-510)atfs		karyopherin alpha 4 (importin alpha 3)							66.0	69.0	68.0					3																	160245789		2203	4300	6503	SO:0001589	frameshift_variant	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160245789delG	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.508delC	3.37:g.160245789delG	ENSP00000334373:p.His170fs						p.H170fs	NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		8	813	-			170			NLS binding site (major) (By similarity).		A8K4S6|D3DNM2|O00190	Frame_Shift_Del	DEL	ENST00000334256.4	37	c.508delC	CCDS3191.1																																																																																				0.348	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		48	51						48	51	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165547909	165547915	+	Frame_Shift_Del	DEL	CTTCATT	CTTCATT	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:165547909_165547915delCTTCATT	ENST00000264381.3	-	2	1073_1079	c.907_913delAATGAAG	c.(907-915)aatgaagcafs	p.NEA303fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	303					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	ACAACAAATGCTTCATTCAGAAGAATT	0.401																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(907-915)cafs		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)																																			SO:0001589	frameshift_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547909_165547915delCTTCATT	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.907_913delAATGAAG	3.37:g.165547909_165547915delCTTCATT	ENSP00000264381:p.Asn303fs					BCHE_ENST00000540653.1_Intron	p.NEA303fs	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	1073_1079	-			303					A8K7P8	Frame_Shift_Del	DEL	ENST00000264381.3	37	c.907_913delAATGAAG	CCDS3198.1																																																																																				0.401	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			33	123						33	123	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172096209	172096210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:172096209_172096210insC	ENST00000336824.4	+	24	3257_3258	c.3158_3159insC	c.(3157-3162)gtccccfs	p.VP1053fs	FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.VP1053fs|FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.VP1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.47																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(3157-3159)gccfs		fibronectin type III domain containing 3B																																				SO:0001589	frameshift_variant	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096209_172096210insC	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3165dupC	3.37:g.172096216_172096216dupC	ENSP00000338523:p.Val1053fs					FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.A1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.A1053fs	p.A1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3257_3258	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1053					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Frame_Shift_Ins	INS	ENST00000336824.4	37	c.3158_3159insC	CCDS3217.1																																																																																				0.470	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		9	177						9	177	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183777416	183777417	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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	629						8	629	---	---	---	---
LPP	4026	broad.mit.edu	37	3	188478066	188478066	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:188478066delA	ENST00000312675.4	+	8	1652	c.1406delA	c.(1405-1407)tacfs	p.Y469fs	LPP_ENST00000543006.1_Frame_Shift_Del_p.Y469fs	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	469	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GAGCCCTGCTACATTGTAAGT	0.453			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1405-1407)tcfs		LIM domain containing preferred translocation partner in lipoma							130.0	123.0	125.0					3																	188478066		2203	4300	6503	SO:0001589	frameshift_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188478066delA	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1406delA	3.37:g.188478066delA	ENSP00000318089:p.Tyr469fs					LPP_ENST00000543006.1_Frame_Shift_Del_p.Y469fs	p.Y469fs	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	8	1652	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	469			LIM zinc-binding 1.		A1L4L6|D3DNV6|Q8NFX5	Frame_Shift_Del	DEL	ENST00000312675.4	37	c.1406delA	CCDS3291.1																																																																																				0.453	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		11	250						11	250	---	---	---	---
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G	rs559993367		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccgcafs	p.A145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(430-435)cccagafs		leucine zipper-EF-hand containing transmembrane protein 1																																				SO:0001589	frameshift_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843235_1843236insG	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.433dupC	4.37:g.1843242_1843242dupG	ENSP00000305653:p.Ala145fs						p.R145fs	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		3	728_729	-			145					B4DED2|Q9UF65	Frame_Shift_Ins	INS	ENST00000302787.2	37	c.432_433insC	CCDS3355.1																																																																																				0.604	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			22	330						22	330	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-687)gaccccfs	p.DP228fs	FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.DP252fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(682-684)gccfs		family with sequence similarity 193, member A																																				SO:0001589	frameshift_variant	8603							g.chr4:2661592_2661593insC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.690dupC	4.37:g.2661599_2661599dupC	ENSP00000324587:p.Asp228fs					FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000505311.1_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		17	778						17	778	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2674078	2674079	+	Frame_Shift_Ins	INS	-	-	C	rs369298637		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:2674078_2674079insC	ENST00000324666.5	+	11	1788_1789	c.1437_1438insC	c.(1438-1440)cccfs	p.P480fs	FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.P480fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.P480fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.P480fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.P502fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	480										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						TGTATGCAACGCCCCCCTTCAC	0.51																																						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.(1435-1440)acccccfs		family with sequence similarity 193, member A																																				SO:0001589	frameshift_variant	8603							g.chr4:2674078_2674079insC	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.1443dupC	4.37:g.2674084_2674084dupC	ENSP00000324587:p.Pro480fs					FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.TP479fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.TP501fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.TP479fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.TP479fs	p.TP479fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			11	1788_1789	+			479					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Ins	INS	ENST00000324666.5	37	c.1437_1438insC	CCDS58875.1																																																																																				0.510	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		7	258						7	258	---	---	---	---
ZBTB49	166793	broad.mit.edu	37	4	4304018	4304019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:4304018_4304019insC	ENST00000337872.4	+	3	576_577	c.455_456insC	c.(454-459)taccccfs	p.YP152fs	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Frame_Shift_Ins_p.YP152fs	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	152					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(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGTGAAAACTACCCCCCTCATT	0.47																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(454-456)tccfs		zinc finger and BTB domain containing 49																																				SO:0001589	frameshift_variant	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4304018_4304019insC	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.461dupC	4.37:g.4304024_4304024dupC	ENSP00000338807:p.Tyr152fs					ZBTB49_ENST00000355834.3_Frame_Shift_Ins_p.S152fs|ZBTB49_ENST00000538529.1_5'UTR	p.S152fs	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			3	576_577	+			152					Q59FJ4|Q5EBN0|Q8TB80	Frame_Shift_Ins	INS	ENST00000337872.4	37	c.455_456insC	CCDS3375.1																																																																																				0.470	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		7	276						7	276	---	---	---	---
CPEB2	132864	broad.mit.edu	37	4	15067857	15067858	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:15067857_15067858insT	ENST00000507071.1	+	11	1710_1711	c.1623_1624insT	c.(1624-1626)tttfs	p.F542fs	CPEB2_ENST00000382395.3_Frame_Shift_Ins_p.F520fs|CPEB2_ENST00000259997.5_Frame_Shift_Ins_p.F550fs|CPEB2_ENST00000538197.1_Frame_Shift_Ins_p.F987fs|CPEB2_ENST00000345451.3_Frame_Shift_Ins_p.F512fs|CPEB2_ENST00000442003.2_Frame_Shift_Ins_p.F960fs|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382401.3_Frame_Shift_Ins_p.F515fs|CPEB2_ENST00000541112.1_Frame_Shift_Ins_p.F979fs|RP11-665G4.1_ENST00000513384.1_RNA			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	542					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)	p.P541P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AATTTGCTCCCTTTTTTTGTGC	0.441																																						ENST00000538197.1																			1	Substitution - coding silent(1)	p.P541P(1)	lung(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(2956-2961)ccttttfs		cytoplasmic polyadenylation element binding protein 2																																				SO:0001589	frameshift_variant	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15067857_15067858insT	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1630dupT	4.37:g.15067864_15067864dupT	ENSP00000424084:p.Phe542fs					RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000507071.1_Frame_Shift_Ins_p.PF541fs|CPEB2_ENST00000382401.3_Frame_Shift_Ins_p.PF514fs|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Frame_Shift_Ins_p.PF511fs|CPEB2_ENST00000259997.5_Frame_Shift_Ins_p.PF549fs|CPEB2_ENST00000442003.2_Frame_Shift_Ins_p.PF959fs|CPEB2_ENST00000382395.3_Frame_Shift_Ins_p.PF519fs|CPEB2_ENST00000541112.1_Frame_Shift_Ins_p.PF978fs	p.PF986fs	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN			12	2958_2959	+			541					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Frame_Shift_Ins	INS	ENST00000507071.1	37	c.2958_2959insT																																																																																					0.441	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		10	423						10	423	---	---	---	---
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:38691475_38691476insC	ENST00000261438.5	+	4	975_976	c.670_671insC	c.(670-672)tccfs	p.S224fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.S224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(670-672)cccfs		Kruppel-like factor 3 (basic)																																				SO:0001589	frameshift_variant	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38691475_38691476insC	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.677dupC	4.37:g.38691482_38691482dupC	ENSP00000261438:p.Ser224fs					KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs	p.P224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN			4	975_976	+			224			Pro-rich.		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Ins	INS	ENST00000261438.5	37	c.670_671insC	CCDS3444.1																																																																																				0.426	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			7	353						7	353	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47676518	47676519	+	Splice_Site	INS	-	-	TT			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:47676518_47676519insTT	ENST00000273857.4	-	10	1249		c.e10-1		CORIN_ENST00000502252.1_Splice_Site|CORIN_ENST00000505909.1_Splice_Site|CORIN_ENST00000508498.1_Splice_Site|CORIN_ENST00000504584.1_Splice_Site	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase						female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GAAGTCTGAACTACAGAGGGAG	0.441																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.e10-1		corin, serine peptidase																																				SO:0001630	splice_region_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47676518_47676519insTT	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1250-1->AA	4.37:g.47676518_47676519insTT						CORIN_ENST00000504584.1_Splice_Site|CORIN_ENST00000508498.1_Splice_Site|CORIN_ENST00000505909.1_Splice_Site|CORIN_ENST00000502252.1_Splice_Site		NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			10	1249	-								B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Splice_Site	INS	ENST00000273857.4	37		CCDS3477.1																																																																																				0.441	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		Intron	56	421						56	421	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71503554	71503555	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:71503554_71503555insG	ENST00000396073.3	+	8	863_864	c.582_583insG	c.(583-585)gggfs	p.G195fs	ENAM_ENST00000472903.1_3'UTR	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	195					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GCAATGAAGAAGGGGGGGTAAG	0.431																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(580-585)gaggggfs		enamelin																																				SO:0001589	frameshift_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71503554_71503555insG	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.588dupG	4.37:g.71503561_71503561dupG	ENSP00000379383:p.Gly195fs					ENAM_ENST00000472903.1_3'UTR	p.EG194fs	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		8	863_864	+			194					Q17RI5|Q9H3D1	Frame_Shift_Ins	INS	ENST00000396073.3	37	c.582_583insG	CCDS3544.2																																																																																				0.431	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		17	380						17	380	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:79238582_79238583insC	ENST00000325942.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1884)agccccfs	p.SP627fs	FRAS1_ENST00000264895.6_Frame_Shift_Ins_p.SP627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.SP627fs	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	627					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1879-1881)accfs		Fraser syndrome 1																																				SO:0001589	frameshift_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79238582_79238583insC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1887dupC	4.37:g.79238589_79238589dupC	ENSP00000326330:p.Ser627fs					FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs	p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			17	2320_2321	+			627					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Frame_Shift_Ins	INS	ENST00000325942.6	37	c.1880_1881insC	CCDS54772.1																																																																																				0.574	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			8	112						8	112	---	---	---	---
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351																																					Colon(86;1802 1843 17863 46794)	ENST00000295256.5																			0				breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7						c.(409-414)gggagafs		hematopoietic prostaglandin D synthase	Glutathione(DB00143)																																			SO:0001589	frameshift_variant	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95223320_95223321insC	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.412dupG	4.37:g.95223326_95223326dupC	ENSP00000295256:p.Arg138fs						p.R138fs	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN			5	501_502	-			138			GST C-terminal.		Q6FHT9	Frame_Shift_Ins	INS	ENST00000295256.5	37	c.411_412insG	CCDS3640.1																																																																																				0.351	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		7	555						7	555	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		14	659						14	659	---	---	---	---
EGF	1950	broad.mit.edu	37	4	110909773	110909774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:110909773_110909774insC	ENST00000265171.5	+	18	3087_3088	c.2642_2643insC	c.(2641-2646)tgccccfs	p.CP881fs	EGF_ENST00000509793.1_Frame_Shift_Ins_p.CP839fs|EGF_ENST00000503392.1_Frame_Shift_Ins_p.CP881fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	881	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GTCCCAGTGTGCCCCCCTGCCT	0.47																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2641-2643)tccfs		epidermal growth factor	Sulindac(DB00605)																																			SO:0001589	frameshift_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110909773_110909774insC	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2648dupC	4.37:g.110909779_110909779dupC	ENSP00000265171:p.Cys881fs					EGF_ENST00000503392.1_Frame_Shift_Ins_p.S881fs|EGF_ENST00000509793.1_Frame_Shift_Ins_p.S839fs	p.S881fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	18	3087_3088	+		Hepatocellular(203;0.0893)	881			EGF-like 7; calcium-binding (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Frame_Shift_Ins	INS	ENST00000265171.5	37	c.2642_2643insC	CCDS3689.1																																																																																				0.470	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			10	323						10	323	---	---	---	---
C4orf32	132720	broad.mit.edu	37	4	113107915	113107916	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:113107915_113107916insT	ENST00000309733.5	+	2	404_405	c.220_221insT	c.(220-222)cttfs	p.L74fs		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	74						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		AATGGGAACACTTTTTGGTGAA	0.366																																						ENST00000309733.4																			0											c.(220-222)tttfs		chromosome 4 open reading frame 32																																				SO:0001589	frameshift_variant	132720					integral to membrane		g.chr4:113107915_113107916insT	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.225dupT	4.37:g.113107920_113107920dupT	ENSP00000310182:p.Leu74fs						p.F74fs	NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00198)	2	404_405	+		Ovarian(17;0.156)	74					Q49A91|Q4W5C7|Q8TBF9	Frame_Shift_Ins	INS	ENST00000309733.5	37	c.220_221insT	CCDS3695.1																																																																																				0.366	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		8	760						8	760	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071648	134071649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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	213						7	213	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:155526058_155526059insC	ENST00000336098.3	-	9	1327_1328	c.1289_1290insG	c.(1288-1290)ggafs	p.G430fs	FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000404648.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.45																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1288-1290)ggcfs		fibrinogen gamma chain	Sucralfate(DB00364)																																			SO:0001589	frameshift_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155526058_155526059insC		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1290dupG	4.37:g.155526064_155526064dupC	ENSP00000336829:p.Gly430fs					FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs	p.G430fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			9	1528_1529	-	all_hematologic(180;0.215)	Renal(120;0.0458)	430			Platelet aggregation and Staphylococcus clumping.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Frame_Shift_Ins	INS	ENST00000336098.3	37	c.1289_1290insG	CCDS3788.1																																																																																				0.450	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		10	609						10	609	---	---	---	---
SNX25	83891	broad.mit.edu	37	4	186188239	186188240	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:186188239_186188240insC	ENST00000504273.1	+	5	823_824	c.529_530insC	c.(529-531)gccfs	p.A177fs	SNX25_ENST00000264694.8_Frame_Shift_Ins_p.A177fs			Q9H3E2	SNX25_HUMAN	sorting nexin 25	177					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CTACACCTATGCCCCCTCTTAC	0.441																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(529-531)cccfs		sorting nexin 25																																				SO:0001589	frameshift_variant	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186188239_186188240insC	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.534dupC	4.37:g.186188244_186188244dupC	ENSP00000426255:p.Ala177fs					SNX25_ENST00000264694.8_Frame_Shift_Ins_p.P177fs	p.P177fs			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	5	823_824	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	177					Q3ZT30|Q8N6K3	Frame_Shift_Ins	INS	ENST00000504273.1	37	c.529_530insC	CCDS34116.1																																																																																				0.441	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		10	381						10	381	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:186997804_186997805insG	ENST00000296795.3	+	2	135_136	c.31_32insG	c.(31-33)tggfs	p.W11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(31-33)gggfs		toll-like receptor 3																																				SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997804_186997805insG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.38dupG	4.37:g.186997811_186997811dupG	ENSP00000296795:p.Trp11fs						p.G11fs	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	135_136	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	11					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Ins	INS	ENST00000296795.3	37	c.31_32insG	CCDS3846.1																																																																																				0.446	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			28	587						28	587	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(919-921)cctfs		tripartite motif family-like 2																																				SO:0001589	frameshift_variant	205860						ligase activity	g.chr4:189012770_189012771insG	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.921dupC	4.37:g.189012776_189012776dupG	ENSP00000422581:p.Pro307fs					TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	p.P307fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1294_1295	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	307			B30.2/SPRY.		B7Z6J6	Frame_Shift_Ins	INS	ENST00000512729.1	37	c.920_921insC	CCDS3850.1																																																																																				0.559	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		8	354						8	354	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9044549	9044550	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:9044549_9044550insG	ENST00000382496.5	-	22	3705_3706	c.3040_3041insC	c.(3040-3042)cttfs	p.L1014fs	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1014					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGGTATTAAGGGGGGCAGGT	0.525																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(3040-3042)taafs		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A																																				SO:0001589	frameshift_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9044549_9044550insG	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.3041dupC	5.37:g.9044555_9044555dupG	ENSP00000371936:p.Leu1014fs					CTD-2215L10.1_ENST00000506519.1_RNA	p.*1014fs	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			22	3705_3706	-			1014					D3DTC6|O60408|Q1RLL9	Frame_Shift_Ins	INS	ENST00000382496.5	37	c.3040_3041insC	CCDS3875.1																																																																																				0.525	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			8	1316						8	1316	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24487951	24487952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:24487951_24487952insG	ENST00000264463.4	-	12	2694_2695	c.2187_2188insC	c.(2185-2190)ccctacfs	p.Y730fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	730					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTGAGTCGTAGGGGGGTGCGG	0.46										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2185-2190)ccacgafs		cadherin 10, type 2 (T2-cadherin)																																				SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487951_24487952insG	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2188dupC	5.37:g.24487957_24487957dupG	ENSP00000264463:p.Tyr730fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.R730fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2694_2695	-			730					Q9ULB3	Frame_Shift_Ins	INS	ENST00000264463.4	37	c.2187_2188insC	CCDS3892.1																																																																																				0.460	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		8	502						8	502	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs					CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		29	1419						29	1419	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G	rs540141603	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:38407191_38407192insG	ENST00000354891.3	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)tggfs	p.W364fs	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Frame_Shift_Ins_p.W364fs|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.W130fs	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_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|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		10	260						10	260	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)gggccafs	p.P325fs	FYB_ENST00000540520.1_Frame_Shift_Ins_p.P335fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.P325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.54																																						ENST00000351578.6																			4	Substitution - Missense(4)	p.P325A(3)|p.P335A(1)	kidney(4)	endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(970-975)ggcatgfs		FYN binding protein																																				SO:0001589	frameshift_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202090_39202091insC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.973dupG	5.37:g.39202097_39202097dupC	ENSP00000316460:p.Pro325fs					FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs	p.M325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	1162_1163	-	all_lung(31;0.000343)		325					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Ins	INS	ENST00000351578.6	37	c.972_973insG	CCDS47200.1																																																																																				0.540	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		11	116						11	116	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G	rs375101987|rs398122799		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:52402939_52402940insG	ENST00000396954.3	-	3	742_743	c.65_66insC	c.(64-66)ccafs	p.P22fs	MOCS2_ENST00000361377.4_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000502171.2_RNA|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000527216.1_Frame_Shift_Ins_p.I80fs|CTD-2366F13.1_ENST00000499459.2_RNA	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426																																						ENST00000361377.4																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5	GRCh37	CI992095	MOCS2	I		c.(250-255)ccttagfs		molybdenum cofactor synthesis 2																																				SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52402939_52402940insG	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.66dupC	5.37:g.52402946_52402946dupG	ENSP00000380157:p.Pro22fs					MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs	p.*85fs			O96033	MOC2A_HUMAN			3	293_294	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	85						Frame_Shift_Ins	INS	ENST00000396954.3	37	c.252_253insC	CCDS3958.1																																																																																				0.426	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		17	390						17	390	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71490419	71490420	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:71490419_71490420insA	ENST00000296755.7	+	5	1535_1536	c.1237_1238insA	c.(1237-1239)caafs	p.Q413fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	413					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)		CATTCTTTTCCAAAAAATGGGA	0.401																																					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.(1237-1239)aaafs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71490419_71490420insA	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.1243dupA	5.37:g.71490425_71490425dupA	ENSP00000296755:p.Gln413fs						p.K413fs	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	1535_1536	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	413					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.1237_1238insA	CCDS4012.1																																																																																				0.401	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		7	872						7	872	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		11	256						11	256	---	---	---	---
BHMT2	23743	broad.mit.edu	37	5	78378743	78378744	+	Frame_Shift_Ins	INS	-	-	C	rs139619947		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:78378743_78378744insC	ENST00000255192.3	+	5	628_629	c.562_563insC	c.(562-564)accfs	p.T188fs	BHMT2_ENST00000521567.1_Frame_Shift_Ins_p.T124fs|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	188	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GCATGATATAACCCCCGGAGAA	0.48																																						ENST00000255192.3																			0				endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(562-564)cccfs		betaine--homocysteine S-methyltransferase 2	L-Methionine(DB00134)																																			SO:0001589	frameshift_variant	23743				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78378743_78378744insC		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.567dupC	5.37:g.78378748_78378748dupC	ENSP00000255192:p.Thr188fs					DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Frame_Shift_Ins_p.P124fs	p.P188fs	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	5	628_629	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	188			Hcy-binding.		B7Z516|Q9NXX7	Frame_Shift_Ins	INS	ENST00000255192.3	37	c.562_563insC	CCDS4045.1																																																																																				0.480	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		8	1170						8	1170	---	---	---	---
CEP120	153241	broad.mit.edu	37	5	122713212	122713213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:122713212_122713213insT	ENST00000306467.5	-	16	2517_2518	c.2213_2214insA	c.(2212-2214)aagfs	p.K738fs	CEP120_ENST00000328236.5_Frame_Shift_Ins_p.K738fs|CEP120_ENST00000306481.6_Frame_Shift_Ins_p.K712fs			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	738					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)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ATTGCAGTTCCTTTTTTTCTCT	0.391																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(2212-2214)agafs		centrosomal protein 120kDa																																				SO:0001589	frameshift_variant	153241					centrosome		g.chr5:122713212_122713213insT	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2214dupA	5.37:g.122713219_122713219dupT	ENSP00000303058:p.Lys738fs					CEP120_ENST00000328236.5_Frame_Shift_Ins_p.R738fs|CEP120_ENST00000306481.6_Frame_Shift_Ins_p.R712fs	p.R738fs			Q8N960	CE120_HUMAN			16	2517_2518	-			738					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Frame_Shift_Ins	INS	ENST00000306467.5	37	c.2213_2214insA	CCDS4134.2																																																																																				0.391	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		9	290						9	290	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		8	244						8	244	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cctfs	p.P1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.P1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505																																						ENST00000508053.1																			2	Substitution - coding silent(2)	p.P1623P(2)	lung(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4867-4869)cgtfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648336_127648337insG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4869dupC	5.37:g.127648342_127648342dupG	ENSP00000424571:p.Pro1623fs					FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs	p.R1623fs			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	43	5842_5843	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1623			TB 6.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.4868_4869insC	CCDS34222.1																																																																																				0.505	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		9	905						9	905	---	---	---	---
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C	rs386134209|rs386134208		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		12	1081						12	1081	---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132432907	132432907	+	Frame_Shift_Del	DEL	G	G	-	rs143003242		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:132432907delG	ENST00000304858.2	+	15	2147	c.1858delG	c.(1858-1860)gcafs	p.A620fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	620					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTAAGAACGCAGTGGAGGA	0.373																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(1858-1860)cafs		heat shock 70kDa protein 4							225.0	209.0	214.0					5																	132432907		2203	4300	6503	SO:0001589	frameshift_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132432907delG	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1858delG	5.37:g.132432907delG	ENSP00000302961:p.Ala620fs						p.A620fs	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2147	+			620					O95756|Q2TAL4|Q9BUK9	Frame_Shift_Del	DEL	ENST00000304858.2	37	c.1858delG	CCDS4166.1																																																																																				0.373	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		14	580						14	580	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137727193	137727194	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		7	130						7	130	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(994-996)cccfs	p.P332fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	332					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(991-996)acccccfs		early growth response 1																																				SO:0001589	frameshift_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803131_137803132insC	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1000dupC	5.37:g.137803138_137803138dupC	ENSP00000239938:p.Pro332fs						p.TP331fs	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1265_1266	+			331						Frame_Shift_Ins	INS	ENST00000239938.4	37	c.993_994insC	CCDS4206.1																																																																																				0.649	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		24	345						24	345	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140176837	140176838	+	Frame_Shift_Ins	INS	-	-	C	rs558931090		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:140176837_140176838insC	ENST00000526136.1	+	1	2288_2289	c.2288_2289insC	c.(2287-2292)gaccccfs	p.DP763fs	PCDHA2_ENST00000520672.2_Frame_Shift_Ins_p.DP763fs|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Frame_Shift_Ins_p.DP763fs|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	763	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGGGAGGACCCCCCCAAGA	0.619																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2287-2289)gccfs					,,,	8,4254		0,8,2123					,,,	3.1	0.9			49	7,8247		0,7,4120	no	frameshift,intron,frameshift,intron	PCDHA2,PCDHA1	NM_031495.1,NM_031411.1,NM_018905.2,NM_018900.2	,,,	0,15,6243	A1A1,A1R,RR		0.0848,0.1877,0.1198	,,,	,,,		15,12501				SO:0001589	frameshift_variant	56146							g.chr5:140176837_140176838insC	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2295dupC	5.37:g.140176844_140176844dupC	ENSP00000431748:p.Asp763fs					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Frame_Shift_Ins_p.A763fs|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Frame_Shift_Ins_p.A763fs	p.A763fs	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2288_2289	+								O75287|Q9BTV3	Frame_Shift_Ins	INS	ENST00000526136.1	37	c.2288_2289insC	CCDS54914.1																																																																																				0.619	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		9	127						9	127	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		8	529						8	529	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		22	351						22	351	---	---	---	---
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs369403370|rs144353509		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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			7	318						7	318	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)ggcfs	p.G397fs	CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.G455fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.G403fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.G463fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.G400fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.G397fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.5																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1189-1191)gaafs		protein phosphatase 2, regulatory subunit B, beta																																				SO:0001589	frameshift_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969651_145969652insC	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1191dupG	5.37:g.145969657_145969657dupC	ENSP00000377935:p.Gly397fs					PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs	p.E397fs			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1760_1761	-			397					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Frame_Shift_Ins	INS	ENST00000394413.3	37	c.1190_1191insG	CCDS4284.1																																																																																				0.500	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		8	544						8	544	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161116011	161116012	+	Frame_Shift_Ins	INS	-	-	G	rs143274925		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:161116011_161116012insG	ENST00000274545.5	+	4	715_716	c.282_283insG	c.(283-285)gggfs	p.G95fs	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Frame_Shift_Ins_p.G85fs			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	95					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GGTTGAAGTTTGGGGGGCCAAC	0.406										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(250-255)ttggggfs		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)																																			SO:0001589	frameshift_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116011_161116012insG		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.288dupG	5.37:g.161116017_161116017dupG	ENSP00000274545:p.Gly95fs	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Frame_Shift_Ins_p.LG94fs|RP11-348M17.2_ENST00000521984.1_RNA	p.LG84fs	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	494_495	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	94					A8K096|Q4VAV2	Frame_Shift_Ins	INS	ENST00000274545.5	37	c.252_253insG	CCDS4356.1																																																																																				0.406	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			14	865						14	865	---	---	---	---
WWC1	23286	broad.mit.edu	37	5	167850576	167850577	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:167850576_167850577insC	ENST00000265293.4	+	11	1815_1816	c.1313_1314insC	c.(1312-1317)agccccfs	p.SP438fs	WWC1_ENST00000521089.1_Frame_Shift_Ins_p.SP438fs	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	438					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCAGGCAGCAGCCCCGGATCCC	0.614																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(1312-1314)accfs		WW and C2 domain containing 1																																				SO:0001589	frameshift_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167850576_167850577insC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1317dupC	5.37:g.167850580_167850580dupC	ENSP00000265293:p.Ser438fs					WWC1_ENST00000521089.1_Frame_Shift_Ins_p.T438fs	p.T438fs	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	11	1815_1816	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	438					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Frame_Shift_Ins	INS	ENST00000265293.4	37	c.1313_1314insC	CCDS4366.1																																																																																				0.614	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		7	2448						7	2448	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)accfs	p.T526fs	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1576-1578)cctfs		serine/threonine kinase 10				2,4262		0,2,2130						4.6	1.0		dbSNP_131	210	0,8254		0,0,4127	no	frameshift	STK10	NM_005990.3		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016				2,12516				SO:0001589	frameshift_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171517344_171517345insT	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1577dupA	5.37:g.171517351_171517351dupT	ENSP00000176763:p.Thr526fs						p.P526fs	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1919_1920	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	526					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Ins	INS	ENST00000176763.5	37	c.1576_1577insA	CCDS34290.1																																																																																				0.515	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		13	772						13	772	---	---	---	---
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)cccaagfs	p.K274fs	KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.K274fs|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.K255fs	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	274						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(817-822)ccagatfs		KIAA1191																																				SO:0001589	frameshift_variant	57179						protein binding	g.chr5:175774701_175774702insG	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.820dupC	5.37:g.175774707_175774707dupG	ENSP00000298569:p.Lys274fs					KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs	p.D274fs	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	9	1352_1353	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	274					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Frame_Shift_Ins	INS	ENST00000298569.4	37	c.819_820insC	CCDS4399.1																																																																																				0.579	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		9	435						9	435	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)cttfs	p.L9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485																																						ENST00000230449.4																			1	Deletion - Frameshift(1)	p.Q6fs*28(1)	ovary(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(25-27)tgtfs		exocyst complex component 2																																				SO:0001589	frameshift_variant	55770				exocytosis|protein transport			g.chr6:637793_637794insG	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.26dupC	6.37:g.637800_637800dupG	ENSP00000230449:p.Leu9fs					EXOC2_ENST00000448181.3_Intron	p.C9fs	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	2	160_161	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	9			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Ins	INS	ENST00000230449.4	37	c.25_26insC	CCDS34327.1																																																																																				0.485	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		35	782						35	782	---	---	---	---
WRNIP1	56897	broad.mit.edu	37	6	2785481	2785482	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:2785481_2785482insG	ENST00000380773.4	+	7	2172_2173	c.1963_1964insG	c.(1963-1965)aggfs	p.R655fs	WRNIP1_ENST00000380769.4_Frame_Shift_Ins_p.R435fs|WRNIP1_ENST00000380771.4_Frame_Shift_Ins_p.R630fs|WRNIP1_ENST00000380764.1_Frame_Shift_Ins_p.R271fs	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TGAAGAGTTGAGGGGGGTAGAT	0.52																																						ENST00000380769.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1303-1305)gggfs		Werner helicase interacting protein 1																																				SO:0001589	frameshift_variant	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2785481_2785482insG	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1969dupG	6.37:g.2785487_2785487dupG	ENSP00000370150:p.Arg655fs					WRNIP1_ENST00000380771.4_Frame_Shift_Ins_p.G630fs|WRNIP1_ENST00000380773.4_Frame_Shift_Ins_p.G655fs|WRNIP1_ENST00000380764.1_Frame_Shift_Ins_p.G271fs	p.G435fs			Q96S55	WRIP1_HUMAN			7	1534_1535	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	655						Frame_Shift_Ins	INS	ENST00000380773.4	37	c.1303_1304insG	CCDS4475.1																																																																																				0.520	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		9	422						9	422	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs					PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron	p.G251fs			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		17	314						17	314	---	---	---	---
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C	rs577436927		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(259-261)cccfs	p.P87fs		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485																																						ENST00000378491.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(256-261)gtccccfs		neurensin 1																																				SO:0001589	frameshift_variant	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145844_24145845insC	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.264dupC	6.37:g.24145850_24145850dupC	ENSP00000367752:p.Pro87fs						p.VP86fs	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN			4	559_560	+			86						Frame_Shift_Ins	INS	ENST00000378491.4	37	c.258_259insC	CCDS4549.1																																																																																				0.485	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		7	212						7	212	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(970-972)agcfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs					DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	p.S324fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			8	1271_1272	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		25	1181						25	1181	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29577143	29577144	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:29577143_29577144insG	ENST00000377034.4	-	15	2056_2057	c.1721_1722insC	c.(1720-1722)ccafs	p.P574fs	GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.P457fs|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.P457fs|GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.P512fs	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	574					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TCTGGTCAGCTGGGGGGGACCC	0.54																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1720-1722)cgcfs		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001589	frameshift_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29577143_29577144insG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1722dupC	6.37:g.29577150_29577150dupG	ENSP00000366233:p.Pro574fs					GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.R457fs|GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.R512fs|GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.R457fs	p.R574fs	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			15	2056_2057	-			574					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Frame_Shift_Ins	INS	ENST00000377034.4	37	c.1721_1722insC	CCDS4663.1																																																																																				0.540	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			20	318						20	318	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	3'UTR	INS	-	-	G	rs6933271	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:30867830_30867831insG	ENST00000324771.8	+	0	4047_4048				DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Frame_Shift_Ins_p.W433fs			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1						branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTACATTTTTGGGGGGAGAGA	0.441																																						ENST00000361741.4																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(1297-1299)gggfs		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)																																			SO:0001624	3_prime_UTR_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30867830_30867831insG	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.*758->G	6.37:g.30867836_30867836dupG						DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_3'UTR	p.G433fs			Q08345	DDR1_HUMAN			12	1492_1493	+			0					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Frame_Shift_Ins	INS	ENST00000324771.8	37	c.1297_1298insG	CCDS34385.1																																																																																				0.441	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		12	370						12	370	---	---	---	---
DDX39B	7919	broad.mit.edu	37	6	31500690	31500691	+	Splice_Site	INS	-	-	G	rs557956088	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:31500690_31500691insG	ENST00000396172.1	-	7	1366		c.e7-2		DDX39B_ENST00000462421.1_5'Flank|DDX39B_ENST00000417556.2_Splice_Site|ATP6V1G2-DDX39B_ENST00000376185.1_Splice_Site|DDX39B_ENST00000376177.2_Splice_Site|DDX39B_ENST00000458640.1_Splice_Site|DDX39B_ENST00000415382.2_Splice_Site	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B						ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTCCATTGGCTgggggggagga	0.579																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.e8-2		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B																																				SO:0001630	splice_region_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31500690_31500691insG	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.736-2->C	6.37:g.31500697_31500697dupG						DDX39B_ENST00000376177.2_Splice_Site|DDX39B_ENST00000458640.1_Splice_Site|DDX39B_ENST00000396172.1_Splice_Site|DDX39B_ENST00000415382.2_Splice_Site|ATP6V1G2-DDX39B_ENST00000376185.1_Splice_Site				Q13838	DX39B_HUMAN			8	1411	-								B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Splice_Site	INS	ENST00000396172.1	37		CCDS4697.1																																																																																				0.579	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640	Intron	19	353						19	353	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:31608570_31608571insG	ENST00000375964.6	-	20	3155_3156	c.2842_2843insC	c.(2842-2844)cag>cCag	p.Q948fs	BAG6_ENST00000211379.5_Splice_Site_p.Q942fs|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Splice_Site_p.Q978fs|BAG6_ENST00000362049.6_Splice_Site_p.Q942fs|BAG6_ENST00000439687.2_Splice_Site_p.Q816fs|BAG6_ENST00000375976.4_Splice_Site_p.Q942fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.e21+1		BCL2-associated athanogene 6																																				SO:0001630	splice_region_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31608570_31608571insG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2844+1->C	6.37:g.31608577_31608577dupG						BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice	p.A978_splice			P46379	BAG6_HUMAN			21	3221_3222	-			948					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Splice_Site	INS	ENST00000375964.6	37	c.2934_splice	CCDS47403.1																																																																																				0.535	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703	Frame_Shift_Ins	12	587						12	587	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31608920	31608921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:31608920_31608921insC	ENST00000375964.6	-	19	2970_2971	c.2657_2658insG	c.(2656-2658)ggafs	p.G886fs	BAG6_ENST00000211379.5_Frame_Shift_Ins_p.G880fs|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000404765.2_Frame_Shift_Ins_p.G916fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.G880fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.G754fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.G880fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	886					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCATCTGCTGTCCCCCCAAGCA	0.515																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(2746-2748)gcafs		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.chr6:31608920_31608921insC	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.2658dupG	6.37:g.31608926_31608926dupC	ENSP00000365131:p.Gly886fs					BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs	p.A916fs			P46379	BAG6_HUMAN			20	3036_3037	-			886					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.2747_2748insG	CCDS47403.1																																																																																				0.515	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		11	807						11	807	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|DDAH2_ENST00000480913.1_5'Flank	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered					C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN			5	558_559	+			0					Q5SRS8|Q8IY94	Frame_Shift_Ins	INS	ENST00000375819.2	37	c.547_548insC	CCDS4714.1																																																																																				0.579	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			11	227						11	227	---	---	---	---
VARS	7407	broad.mit.edu	37	6	31759454	31759455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:31759454_31759455insG	ENST00000375663.3	-	8	1472_1473	c.1032_1033insC	c.(1030-1035)cccaatfs	p.N345fs	VARS_ENST00000444930.2_Frame_Shift_Ins_p.N50fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	345					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGTCACATTGGGGGGTGGGA	0.564																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(1030-1035)ccatgtfs		valyl-tRNA synthetase	L-Valine(DB00161)																																			SO:0001589	frameshift_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31759454_31759455insG	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1033dupC	6.37:g.31759460_31759460dupG	ENSP00000364815:p.Asn345fs					VARS_ENST00000444930.2_Frame_Shift_Ins_p.C50fs	p.C345fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			8	1472_1473	-			345					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Frame_Shift_Ins	INS	ENST00000375663.3	37	c.1032_1033insC	CCDS34412.1																																																																																				0.564	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		11	505						11	505	---	---	---	---
C2	717	broad.mit.edu	37	6	31911214	31911215	+	Frame_Shift_Ins	INS	-	-	G	rs544657195	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:31911214_31911215insG	ENST00000299367.5	+	12	1753_1754	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs	CFB_ENST00000556679.1_Frame_Shift_Ins_p.R340fs|C2_ENST00000442278.2_Frame_Shift_Ins_p.R361fs|CFB_ENST00000477310.1_Frame_Shift_Ins_p.R264fs|CFB_ENST00000456570.1_Frame_Shift_Ins_p.R340fs|C2_ENST00000452323.2_Frame_Shift_Ins_p.R279fs|CFB_ENST00000425368.2_5'Flank|C2_ENST00000469372.1_Frame_Shift_Ins_p.R247fs	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	493	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGAGACCTGCCGGGGGGCCCTC	0.589																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(1018-1020)gggfs		complement factor B																																				SO:0001589	frameshift_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31911214_31911215insG		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1483dupG	6.37:g.31911220_31911220dupG	ENSP00000299367:p.Arg493fs					C2_ENST00000469372.1_Frame_Shift_Ins_p.G247fs|C2_ENST00000442278.2_Frame_Shift_Ins_p.G361fs|C2_ENST00000452323.2_Frame_Shift_Ins_p.G279fs|CFB_ENST00000556679.1_Frame_Shift_Ins_p.G340fs|CFB_ENST00000477310.1_Frame_Shift_Ins_p.G264fs|C2_ENST00000299367.5_Frame_Shift_Ins_p.G493fs	p.G340fs			P00751	CFAB_HUMAN			9	1073_1074	+			512			VWFA.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Frame_Shift_Ins	INS	ENST00000299367.5	37	c.1018_1019insG	CCDS4728.1																																																																																				0.589	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			7	299						7	299	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31937382	31937383	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:31937382_31937383insG	ENST00000375394.2	+	28	3744_3745	c.3631_3632insG	c.(3631-3633)cggfs	p.R1211fs	STK19_ENST00000375333.2_5'Flank|DXO_ENST00000478221.1_5'Flank|STK19_ENST00000375331.2_5'Flank|SKIV2L_ENST00000544581.1_Frame_Shift_Ins_p.R1018fs	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1211					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCGCTCACTGCGGGGGGCAGCC	0.653																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(3631-3633)gggfs		superkiller viralicidic activity 2-like (S. cerevisiae)																																				SO:0001589	frameshift_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31937382_31937383insG		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3637dupG	6.37:g.31937388_31937388dupG	ENSP00000364543:p.Arg1211fs					SKIV2L_ENST00000544581.1_Frame_Shift_Ins_p.G1018fs	p.G1211fs	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			28	3744_3745	+			1211					O15005|Q12902|Q15476|Q5ST66	Frame_Shift_Ins	INS	ENST00000375394.2	37	c.3631_3632insG	CCDS4731.1																																																																																				0.653	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			7	151						7	151	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32020535	32020536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:32020535_32020536insC	ENST00000375244.3	-	26	9227_9228	c.9026_9027insG	c.(9025-9027)ggcfs	p.G3009fs	TNXB_ENST00000375247.2_Frame_Shift_Ins_p.G3007fs			P22105	TENX_HUMAN	tenascin XB	3054	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGGCTCCAGGCCCCCCACGGT	0.663																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9025-9027)gctfs		tenascin XB																																				SO:0001589	frameshift_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32020535_32020536insC	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9027dupG	6.37:g.32020541_32020541dupC	ENSP00000364393:p.Gly3009fs					TNXB_ENST00000375247.2_Frame_Shift_Ins_p.A3007fs	p.A3009fs			P22105	TENX_HUMAN			26	9227_9228	-			3054			Fibronectin type-III 22.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Ins	INS	ENST00000375244.3	37	c.9026_9027insG																																																																																					0.663	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		7	160						7	160	---	---	---	---
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gagfs	p.E158fs	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										CTCTATGAGCTCCCCCCAAGTT	0.589																																						ENST00000375156.3																			0											c.(472-474)gctfs		FK506 binding protein like																																				SO:0001589	frameshift_variant	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097085_32097086insC	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.473dupG	6.37:g.32097091_32097091dupC	ENSP00000364298:p.Glu158fs						p.A158fs	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	742_743	-			158					A8K5V3|B0UYX8|Q9H5G3	Frame_Shift_Ins	INS	ENST00000375156.3	37	c.472_473insG	CCDS4738.1																																																																																				0.589	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			12	404						12	404	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33134298	33134299	+	Frame_Shift_Ins	INS	-	-	G	rs550330978|rs148262058	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:33134298_33134299insG	ENST00000374708.4	-	58	4383_4384	c.4125_4126insC	c.(4123-4128)cccggcfs	p.G1376fs	COL11A2_ENST00000374712.1_Frame_Shift_Ins_p.G1381fs|COL11A2_ENST00000341947.2_Frame_Shift_Ins_p.G1462fs|COL11A2_ENST00000361917.1_Frame_Shift_Ins_p.G1355fs|COL11A2_ENST00000357486.1_Frame_Shift_Ins_p.G1441fs|COL11A2_ENST00000395197.1_Frame_Shift_Ins_p.G1402fs|COL11A2_ENST00000374713.1_Frame_Shift_Ins_p.G1415fs|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Frame_Shift_Ins_p.G1436fs	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1462	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P1461P(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACGGGGAGGCCGGGGGGACCTC	0.619																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			1	Substitution - coding silent(1)	p.P1461P(1)	lung(1)	biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(4381-4386)ccgcctfs		collagen, type XI, alpha 2																																				SO:0001589	frameshift_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33134298_33134299insG	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4126dupC	6.37:g.33134304_33134304dupG	ENSP00000363840:p.Gly1376fs					COL11A2_ENST00000374713.1_Frame_Shift_Ins_p.P1415fs|COL11A2_ENST00000374708.4_Frame_Shift_Ins_p.P1376fs|COL11A2_ENST00000361917.1_Frame_Shift_Ins_p.P1355fs|COL11A2_ENST00000395197.1_Frame_Shift_Ins_p.P1402fs|COL11A2_ENST00000374714.1_Frame_Shift_Ins_p.P1436fs|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Frame_Shift_Ins_p.P1381fs|COL11A2_ENST00000357486.1_Frame_Shift_Ins_p.P1441fs	p.P1462fs	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			60	4610_4611	-			1462			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Frame_Shift_Ins	INS	ENST00000374708.4	37	c.4383_4384insC	CCDS43452.1																																																																																				0.619	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			7	160						7	160	---	---	---	---
PHF1	5252	broad.mit.edu	37	6	33383636	33383637	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:33383636_33383637insC	ENST00000374516.3	+	15	1736_1737	c.1465_1466insC	c.(1465-1467)gccfs	p.A489fs	PHF1_ENST00000374512.3_Frame_Shift_Ins_p.P454fs|CUTA_ENST00000492510.1_5'Flank	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			10	555						10	555	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(295-297)cccfs	p.P99fs	Y_RNA_ENST00000383990.1_RNA|UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.P99fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	99							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(292-297)cgccccfs		UHRF1 binding protein 1																																				SO:0001589	frameshift_variant	54887							g.chr6:34791081_34791082insC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.300dupC	6.37:g.34791087_34791087dupC	ENSP00000192788:p.Pro99fs					UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			4	465_466	+			98					Q9NXE0	Frame_Shift_Ins	INS	ENST00000192788.5	37	c.294_295insC	CCDS43455.1																																																																																				0.446	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		19	918						19	918	---	---	---	---
TCP11	6954	broad.mit.edu	37	6	35108559	35108560	+	Frame_Shift_Ins	INS	-	-	G	rs371490655		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:35108559_35108560insG	ENST00000512012.1	-	1	244_245	c.88_89insC	c.(88-90)cagfs	p.Q30fs	TCP11_ENST00000418521.2_Intron|TCP11_ENST00000311875.5_Frame_Shift_Ins_p.Q43fs|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000444780.2_Frame_Shift_Ins_p.Q43fs|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000373979.2_Intron			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	30					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CTTGTCTTCCTGGGGGGGTCCT	0.639																																						ENST00000311875.5																			0				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						c.(127-129)ggafs		t-complex 11, testis-specific			,	6,3644		0,6,1819					,	-4.2	0.0			24	2,7854		0,2,3926	no	utr-5,frameshift	TCP11	NM_018679.4,NM_001093728.1	,	0,8,5745	A1A1,A1R,RR		0.0255,0.1644,0.0695	,	,		8,11498				SO:0001589	frameshift_variant	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35108559_35108560insG		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.89dupC	6.37:g.35108566_35108566dupG	ENSP00000425995:p.Gln30fs					TCP11_ENST00000373979.2_Intron|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000444780.2_Frame_Shift_Ins_p.G43fs|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000512012.1_Frame_Shift_Ins_p.G30fs|TCP11_ENST00000373974.4_Intron	p.G43fs			Q8WWU5	TCP11_HUMAN			2	544_545	-			30					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Frame_Shift_Ins	INS	ENST00000512012.1	37	c.127_128insC																																																																																					0.639	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		8	236						8	236	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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			38	832						38	832	---	---	---	---
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Intron	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:36068005_36068006insC	ENST00000229794.4	+	10	1150				MAPK14_ENST00000229795.3_Frame_Shift_Ins_p.P242fs|MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Intron	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	ENST00000229795.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						c.(721-726)acccccfs		mitogen-activated protein kinase 14																																				SO:0001627	intron_variant	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36068005_36068006insC	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.763-2342->C	6.37:g.36068011_36068011dupC						MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000229794.4_Intron|MAPK14_ENST00000310795.4_Intron	p.TP241fs	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN			9	1170_1171	+			241			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Frame_Shift_Ins	INS	ENST00000229794.4	37	c.723_724insC	CCDS4816.1																																																																																				0.426	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		15	971						15	971	---	---	---	---
STK38	11329	broad.mit.edu	37	6	36463592	36463593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:36463592_36463593insC	ENST00000229812.7	-	14	1651_1652	c.1366_1367insG	c.(1366-1368)gcafs	p.A456fs		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAAGGTATTGCCCCCCTTGCA	0.455																																					Colon(180;997 3561 16158)	ENST00000229812.7																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1366-1368)aatfs		serine/threonine kinase 38																																				SO:0001589	frameshift_variant	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36463592_36463593insC		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.1367dupG	6.37:g.36463598_36463598dupC	ENSP00000229812:p.Ala456fs						p.N456fs	NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN			14	1651_1652	-			456						Frame_Shift_Ins	INS	ENST00000229812.7	37	c.1366_1367insG	CCDS4822.1																																																																																				0.455	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		7	346						7	346	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39874149	39874150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:39874149_39874150insC	ENST00000340692.5	-	11	1897_1898	c.1894_1895insG	c.(1894-1896)gacfs	p.D632fs	MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000425303.2_Frame_Shift_Ins_p.D632fs|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000308559.7_Frame_Shift_Ins_p.D616fs|MOCS1_ENST00000373195.3_Frame_Shift_Ins_p.D529fs			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	632	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCGATGGAAGTCCCCCCGCTGA	0.579																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000308559.7																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1846-1848)cttfs		molybdenum cofactor synthesis 1																																				SO:0001589	frameshift_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39874149_39874150insC	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1895dupG	6.37:g.39874155_39874155dupC	ENSP00000344794:p.Asp632fs					MOCS1_ENST00000340692.5_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373195.3_Frame_Shift_Ins_p.L529fs	p.L616fs			Q9NZB8	MOCS1_HUMAN			10	1979_1980	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		632			Molybdenum cofactor biosynthesis protein C.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Frame_Shift_Ins	INS	ENST00000340692.5	37	c.1846_1847insG																																																																																					0.579	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		12	616						12	616	---	---	---	---
RUNX2	860	broad.mit.edu	37	6	45514855	45514856	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:45514855_45514856insG	ENST00000371438.1	+	8	1737_1738	c.1379_1380insG	c.(1378-1383)ccggggfs	p.PG460fs	RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.PG424fs|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.PG506fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.PG446fs|RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.PG438fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.PG528fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.PG460fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	460	Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|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)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G462fs*22(1)|p.G530fs*22(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCCATGGTGCCGGGGGGAGACC	0.545																																						ENST00000371438.1																			2	Deletion - Frameshift(2)	p.G462fs*22(1)|p.G530fs*22(1)	breast(2)	breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	GRCh37	CI993282	RUNX2	I		c.(1378-1380)cggfs		runt-related transcription factor 2																																				SO:0001589	frameshift_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45514855_45514856insG	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1385dupG	6.37:g.45514861_45514861dupG	ENSP00000360493:p.Pro460fs					RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.R446fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.R460fs|RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.R438fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.R424fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.R506fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.R528fs	p.R460fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			8	1737_1738	+			460			Interaction with MYST4.|Pro/Ser/Thr-rich.		O14614|O14615|O95181	Frame_Shift_Ins	INS	ENST00000371438.1	37	c.1379_1380insG	CCDS43467.2																																																																																				0.545	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		7	319						7	319	---	---	---	---
MEP1A	4224	broad.mit.edu	37	6	46806746	46806747	+	Frame_Shift_Ins	INS	-	-	G	rs141276985|rs529601005		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:46806746_46806747insG	ENST00000230588.4	+	14	2123_2124	c.2114_2115insG	c.(2113-2118)acggggfs	p.TG705fs		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	705	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T705T(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTCTTCTACACGGGGGAGCGCT	0.584																																						ENST00000230588.4																			1	Substitution - coding silent(1)	p.T705T(1)	lung(1)	NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2113-2115)aggfs		meprin A, alpha (PABA peptide hydrolase)																																				SO:0001589	frameshift_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46806746_46806747insG		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2119dupG	6.37:g.46806751_46806751dupG	ENSP00000230588:p.Thr705fs						p.R705fs	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		14	2123_2124	+			705			EGF-like.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Frame_Shift_Ins	INS	ENST00000230588.4	37	c.2114_2115insG	CCDS4918.1																																																																																				0.584	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		9	1801						9	1801	---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47680115	47680115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:47680115delT	ENST00000283303.2	+	5	581	c.323delT	c.(322-324)cttfs	p.L108fs	GPR115_ENST00000327753.3_Frame_Shift_Del_p.L108fs|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Frame_Shift_Del_p.L165fs	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	108					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCATCTCGCCTTTCTGTAGCA	0.408																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(322-324)ctfs		G protein-coupled receptor 115							147.0	137.0	140.0					6																	47680115		2203	4300	6503	SO:0001589	frameshift_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47680115delT	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.323delT	6.37:g.47680115delT	ENSP00000283303:p.Leu108fs					GPR115_ENST00000327753.3_Frame_Shift_Del_p.L108fs|GPR115_ENST00000371220.1_Frame_Shift_Del_p.L165fs	p.L108fs	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			5	581	+			108					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Frame_Shift_Del	DEL	ENST00000283303.2	37	c.323delT	CCDS4922.2																																																																																				0.408	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		293	192						293	192	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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			27	468						27	468	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(361-363)tttfs	p.F121fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	121					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)			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)			CTGAGACCTGGTTTTTTGGACA	0.431																																						ENST00000370862.3																			0				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.(358-363)tgttttfs		hypocretin (orexin) receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113573_55113574insT	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.366dupT	6.37:g.55113579_55113579dupT	ENSP00000359899:p.Phe121fs						p.CF120fs	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	696_697	+	Lung NSC(77;0.107)|Renal(3;0.122)		120					Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.360_361insT	CCDS4956.1																																																																																				0.431	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			11	646						11	646	---	---	---	---
DST	667	broad.mit.edu	37	6	56471391	56471392	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:56471391_56471392delAG	ENST00000361203.3	-	36	7408_7409	c.7401_7402delCT	c.(7399-7404)agcttafs	p.L2468fs	DST_ENST00000370769.4_Frame_Shift_Del_p.L2468fs|DST_ENST00000446842.2_Frame_Shift_Del_p.L2142fs|DST_ENST00000370754.5_Frame_Shift_Del_p.L2646fs|DST_ENST00000312431.6_Frame_Shift_Del_p.L2468fs|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2468					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCACACTTAAGCTACCAACTG	0.386																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(7933-7938)agtafs		dystonin																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56471391_56471392delAG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.7401_7402delCT	6.37:g.56471391_56471392delAG	ENSP00000354508:p.Leu2468fs					DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Frame_Shift_Del_p.SL2467fs|DST_ENST00000370769.4_Frame_Shift_Del_p.SL2467fs|DST_ENST00000446842.2_Frame_Shift_Del_p.SL2141fs|DST_ENST00000361203.3_Frame_Shift_Del_p.SL2467fs	p.SL2645fs			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	7934_7935	-	Lung NSC(77;0.103)		2467					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000361203.3	37	c.7935_7936delCT																																																																																					0.386	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		10	112						10	112	---	---	---	---
KHDRBS2	202559	broad.mit.edu	37	6	62604601	62604602	+	Frame_Shift_Ins	INS	-	-	C	rs150391619		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:62604601_62604602insC	ENST00000281156.4	-	6	1026_1027	c.748_749insG	c.(748-750)gcafs	p.A250fs		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	250	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CACTGTTGGTGCCCCCCGGGCT	0.54																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(748-750)accfs		KH domain containing, RNA binding, signal transduction associated 2																																				SO:0001589	frameshift_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604601_62604602insC	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.749dupG	6.37:g.62604607_62604607dupC	ENSP00000281156:p.Ala250fs						p.T250fs	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	6	1026_1027	-			250			Pro-rich.		A8K7M8|Q8N4I4|Q8TCZ4	Frame_Shift_Ins	INS	ENST00000281156.4	37	c.748_749insG	CCDS4963.1																																																																																				0.540	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		10	236						10	236	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75827102	75827103	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:75827102_75827103insT	ENST00000322507.8	-	47	7823_7824	c.7514_7515insA	c.(7513-7515)actfs	p.T2505fs	COL12A1_ENST00000416123.2_Frame_Shift_Ins_p.T2505fs|COL12A1_ENST00000483888.2_Frame_Shift_Ins_p.T2505fs|COL12A1_ENST00000345356.6_Frame_Shift_Ins_p.T1341fs	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2505	Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACTTACTTGAAGTGGCAGTTTC	0.381																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(7513-7515)atcfs		collagen, type XII, alpha 1																																				SO:0001589	frameshift_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75827102_75827103insT	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7514_7515insA	6.37:g.75827102_75827103insT	ENSP00000325146:p.Thr2505fs					COL12A1_ENST00000416123.2_Frame_Shift_Ins_p.I2505fs|COL12A1_ENST00000483888.2_Frame_Shift_Ins_p.I2505fs|COL12A1_ENST00000345356.6_Frame_Shift_Ins_p.I1341fs	p.I2505fs	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			47	7823_7824	-			2505			Nonhelical region (NC3).		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Frame_Shift_Ins	INS	ENST00000322507.8	37	c.7514_7515insA	CCDS43482.1																																																																																				0.381	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		15	155						15	155	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75866087	75866088	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:75866087_75866088insG	ENST00000322507.8	-	15	3444_3445	c.3135_3136insC	c.(3133-3138)cccacafs	p.T1046fs	COL12A1_ENST00000416123.2_Frame_Shift_Ins_p.T1046fs|COL12A1_ENST00000483888.2_Frame_Shift_Ins_p.T1046fs|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1046	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.T1046fs*7(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAAGTGACTGTGGGGGGCACCT	0.49																																						ENST00000322507.8																			1	Deletion - Frameshift(1)	p.T1046fs*7(1)	large_intestine(1)	breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(3133-3138)cccagtfs		collagen, type XII, alpha 1																																				SO:0001589	frameshift_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75866087_75866088insG	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3136dupC	6.37:g.75866093_75866093dupG	ENSP00000325146:p.Thr1046fs					COL12A1_ENST00000416123.2_Frame_Shift_Ins_p.S1046fs|COL12A1_ENST00000483888.2_Frame_Shift_Ins_p.S1046fs|COL12A1_ENST00000345356.6_Intron	p.S1046fs	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			15	3444_3445	-			1046			Fibronectin type-III 7.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Frame_Shift_Ins	INS	ENST00000322507.8	37	c.3135_3136insC	CCDS43482.1																																																																																				0.490	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		10	245						10	245	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:87725846_87725847insC	ENST00000305344.5	+	2	1497_1498	c.794_795insC	c.(793-798)atccccfs	p.IP265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCATCAGGATCCCCCCCTTCG	0.51																																						ENST00000305344.4																			1	Insertion - Frameshift(1)	p.F268fs*4(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(793-795)accfs		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)																																			SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725846_87725847insC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.801dupC	6.37:g.87725853_87725853dupC	ENSP00000307766:p.Ile265fs					HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1497_1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265					E1P503|Q9P1Y1	Frame_Shift_Ins	INS	ENST00000305344.5	37	c.794_795insC	CCDS5006.1																																																																																				0.510	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		25	1104						25	1104	---	---	---	---
SCML4	256380	broad.mit.edu	37	6	108076790	108076791	+	Intron	INS	-	-	G	rs75302347|rs200943253	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:108076790_108076791insG	ENST00000369020.3	-	3	402				SCML4_ENST00000369022.2_Intron|SCML4_ENST00000369021.3_Frame_Shift_Ins_p.P18fs	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		TCCAGTGGAATGGGGGGGTTCT	0.48													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	111	0.0221645	0.0257	0.0	5008	,	,		15044	0.0625		0.004	False		,,,				2504	0.0102					ENST00000369021.3																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25						c.(52-54)cttfs		sex comb on midleg-like 4 (Drosophila)				79,4185		1,77,2054						-2.1	0.0		dbSNP_131	103	17,8237		0,17,4110	no	intron	SCML4	NM_198081.3		1,94,6164	A1A1,A1R,RR		0.206,1.8527,0.7669				96,12422				SO:0001627	intron_variant	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108076790_108076791insG		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.157-5773->C	6.37:g.108076797_108076797dupG						SCML4_ENST00000369020.3_Intron|SCML4_ENST00000369022.2_Intron	p.L18fs			Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	1	52_53	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	50					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Frame_Shift_Ins	INS	ENST00000369020.3	37	c.53_54insC	CCDS5060.2																																																																																				0.480	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		11	159						11	159	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:111693903_111693904insG	ENST00000358835.3	-	14	6108_6109	c.5654_5655insC	c.(5653-5655)ccafs	p.P1885fs	REV3L_ENST00000368802.3_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000435970.1_Frame_Shift_Ins_p.P1807fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.P1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5419-5421)cagfs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit																																				SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693903_111693904insG	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5655dupC	6.37:g.111693910_111693910dupG	ENSP00000351697:p.Pro1885fs					REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs	p.Q1807fs			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6236_6237	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1885					O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	c.5420_5421insC	CCDS5091.2																																																																																				0.431	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		31	596						31	596	---	---	---	---
TSPYL1	7259	broad.mit.edu	37	6	116600787	116600788	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:116600787_116600788insC	ENST00000368608.3	-	1	278_279	c.206_207insG	c.(205-207)ggcfs	p.G69fs	DSE_ENST00000540275.1_Intron|RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	69					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CCTGGGGTACGCCCCCCTCCTC	0.703																																						ENST00000368608.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11						c.(205-207)ggtfs		TSPY-like 1																																				SO:0001589	frameshift_variant	7259				nucleosome assembly	nucleolus		g.chr6:116600787_116600788insC	AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.207dupG	6.37:g.116600793_116600793dupC	ENSP00000357597:p.Gly69fs					DSE_ENST00000540275.1_Intron	p.G69fs	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)	1	278_279	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	69					O75885|Q5TFE6	Frame_Shift_Ins	INS	ENST00000368608.3	37	c.206_207insG	CCDS34518.1																																																																																				0.703	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			7	346						7	346	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117250016	117250017	+	Frame_Shift_Ins	INS	-	-	C	rs552318470		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:117250016_117250017insC	ENST00000332958.2	+	18	2509_2510	c.2493_2494insC	c.(2494-2496)cccfs	p.P832fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	832					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCGTTCACTGCCCCCCTACAG	0.455																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(2491-2496)ctccccfs		regulatory factor X, 6																																				SO:0001589	frameshift_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117250016_117250017insC	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2499dupC	6.37:g.117250022_117250022dupC	ENSP00000332208:p.Pro832fs						p.LP831fs	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			18	2509_2510	+			831					Q5T6B3	Frame_Shift_Ins	INS	ENST00000332958.2	37	c.2493_2494insC	CCDS5113.1																																																																																				0.455	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		16	848						16	848	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gcafs		KIAA0408			,	4,4260		0,4,2128					,	1.5	0.5			231	7,8247		0,7,4120	no	frameshift,utr-3	KIAA0408,C6orf174	NM_014702.4,NM_001012279.2	,	0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767595_127767596insC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1869dupG	6.37:g.127767602_127767602dupC	ENSP00000435150:p.Gly623fs					SOGA3_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		10	223						10	223	---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128388793	128388794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:128388793_128388794insG	ENST00000368215.3	-	12	2026_2027	c.2027_2028insC	c.(2026-2028)ccgfs	p.P676fs	RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368207.3_Frame_Shift_Ins_p.P676fs|PTPRK_ENST00000368213.5_Frame_Shift_Ins_p.P676fs|PTPRK_ENST00000368210.3_Frame_Shift_Ins_p.P676fs|PTPRK_ENST00000368226.4_Frame_Shift_Ins_p.P676fs|PTPRK_ENST00000532331.1_Frame_Shift_Ins_p.P676fs|PTPRK_ENST00000368227.3_Frame_Shift_Ins_p.P676fs|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	676	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GTAGGTTTCCCGGGGGGAGTTC	0.545																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2026-2028)cggfs		protein tyrosine phosphatase, receptor type, K																																				SO:0001589	frameshift_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128388793_128388794insG	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2028dupC	6.37:g.128388799_128388799dupG	ENSP00000357198:p.Pro676fs					PTPRK_ENST00000532331.1_Frame_Shift_Ins_p.R676fs|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Frame_Shift_Ins_p.R676fs|PTPRK_ENST00000368210.3_Frame_Shift_Ins_p.R676fs|PTPRK_ENST00000368226.4_Frame_Shift_Ins_p.R676fs|PTPRK_ENST00000368207.3_Frame_Shift_Ins_p.R676fs|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368215.3_Frame_Shift_Ins_p.R676fs	p.R676fs			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	12	2393_2394	-			676			Fibronectin type-III 4.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Frame_Shift_Ins	INS	ENST00000368215.3	37	c.2027_2028insC																																																																																					0.545	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			9	280						9	280	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129419357	129419358	+	Frame_Shift_Ins	INS	-	-	C	rs143680577	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:129419357_129419358insC	ENST00000421865.2	+	4	485_486	c.436_437insC	c.(436-438)tccfs	p.S146fs		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	146	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGCAGCTAACTCCCCCCGGCCT	0.446																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(436-438)cccfs		laminin, alpha 2																																				SO:0001589	frameshift_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129419357_129419358insC	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.442dupC	6.37:g.129419363_129419363dupC	ENSP00000400365:p.Ser146fs						p.P146fs	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	4	485_486	+			146			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Frame_Shift_Ins	INS	ENST00000421865.2	37	c.436_437insC	CCDS5138.1																																																																																				0.446	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			8	174						8	174	---	---	---	---
CTGF	1490	broad.mit.edu	37	6	132270567	132270568	+	Frame_Shift_Ins	INS	-	-	G	rs15960		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:132270567_132270568insG	ENST00000367976.3	-	5	1086_1087	c.886_887insC	c.(886-888)cacfs	p.H296fs	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	296	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.|Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GGTGGTTCTGTGGGGGGTGCAG	0.53																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	ENST00000367976.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13						c.(886-888)cagfs		connective tissue growth factor																																				SO:0001589	frameshift_variant	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132270567_132270568insG	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.887dupC	6.37:g.132270573_132270573dupG	ENSP00000356954:p.His296fs						p.Q296fs	NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	5	1086_1087	-	Breast(56;0.0602)		296			CTCK.|Heparin-binding.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Frame_Shift_Ins	INS	ENST00000367976.3	37	c.886_887insC	CCDS5151.1																																																																																				0.530	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		19	967						19	967	---	---	---	---
TCF21	6943	broad.mit.edu	37	6	134210862	134210863	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:134210862_134210863insC	ENST00000367882.4	+	1	587_588	c.327_328insC	c.(328-330)cccfs	p.P110fs	TCF21_ENST00000237316.3_Frame_Shift_Ins_p.P110fs|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	110	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TGCCCTGGGTGCCCCCCGACAC	0.644																																						ENST00000367882.4																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(325-330)gtccccfs		transcription factor 21																																				SO:0001589	frameshift_variant	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210862_134210863insC	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.333dupC	6.37:g.134210868_134210868dupC	ENSP00000356857:p.Pro110fs					RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Frame_Shift_Ins_p.VP109fs	p.VP109fs	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	587_588	+	Colorectal(23;0.221)|Breast(56;0.247)		109			Helix-loop-helix motif.		E1P581|O43545|Q6ICV0|Q9BZ14	Frame_Shift_Ins	INS	ENST00000367882.4	37	c.327_328insC	CCDS5167.1																																																																																				0.644	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		8	347						8	347	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146264758	146264759	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:146264758_146264759insT	ENST00000367505.2	-	9	2022_2023	c.1758_1759insA	c.(1756-1761)aaaggafs	p.G587fs	SHPRH_ENST00000275233.7_Frame_Shift_Ins_p.G587fs|SHPRH_ENST00000367503.3_Frame_Shift_Ins_p.G587fs|SHPRH_ENST00000438092.2_Frame_Shift_Ins_p.G587fs			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	587					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGACTTTTTCCTTTTTTTGTGG	0.371																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1756-1761)aagaaafs		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264758_146264759insT	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1759dupA	6.37:g.146264765_146264765dupT	ENSP00000356475:p.Gly587fs					SHPRH_ENST00000367505.2_Frame_Shift_Ins_p.K587fs|SHPRH_ENST00000438092.2_Frame_Shift_Ins_p.K587fs|SHPRH_ENST00000275233.7_Frame_Shift_Ins_p.K587fs	p.K587fs	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2156_2157	-		Ovarian(120;0.0365)	587					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Frame_Shift_Ins	INS	ENST00000367505.2	37	c.1758_1759insA	CCDS43513.2																																																																																				0.371	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		9	374						9	374	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.53																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1210-1212)cfs		NADPH oxidase 3																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743925_155743926delCA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1210_1211delTG	6.37:g.155743933_155743934delCA	ENSP00000159060:p.Cys404fs						p.C404fs	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1312_1313	-		Breast(66;0.0183)	404					Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.1210_1211delTG	CCDS5250.1																																																																																				0.530	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			11	930						11	930	---	---	---	---
PRKAR1B	5575	broad.mit.edu	37	7	720280	720281	+	Frame_Shift_Ins	INS	-	-	G	rs545804273		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:720280_720281insG	ENST00000406797.1	-	3	434_435	c.260_261insC	c.(259-261)ccgfs	p.P87fs	PRKAR1B_ENST00000544935.1_Frame_Shift_Ins_p.P87fs|PRKAR1B_ENST00000360274.4_Frame_Shift_Ins_p.P87fs|PRKAR1B_ENST00000537384.1_Frame_Shift_Ins_p.P87fs|PRKAR1B_ENST00000403562.1_Frame_Shift_Ins_p.P87fs	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	87	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCACAGGGTTCGGGGGGGTGGG	0.619																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(259-261)caafs		protein kinase, cAMP-dependent, regulatory, type I, beta																																				SO:0001589	frameshift_variant	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:720280_720281insG	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.261dupC	7.37:g.720287_720287dupG	ENSP00000385749:p.Pro87fs					PRKAR1B_ENST00000544935.1_Frame_Shift_Ins_p.Q87fs|PRKAR1B_ENST00000360274.4_Frame_Shift_Ins_p.Q87fs|PRKAR1B_ENST00000403562.1_Frame_Shift_Ins_p.Q87fs|PRKAR1B_ENST00000537384.1_Frame_Shift_Ins_p.Q87fs	p.Q87fs	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	3	434_435	-		Ovarian(82;0.0779)	87			Dimerization and phosphorylation.		Q8N422	Frame_Shift_Ins	INS	ENST00000406797.1	37	c.260_261insC	CCDS34579.1																																																																																				0.619	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			8	88						8	88	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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			12	163						12	163	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:13975472_13975473insG	ENST00000430479.1	-	8	1081_1082	c.414_415insC	c.(412-417)cccacafs	p.T139fs	ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000343495.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000399357.3_Intron	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	139					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTGG	0.53			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(358-363)cccaccfs		ets variant 1																																				SO:0001589	frameshift_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975472_13975473insG		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.415dupC	7.37:g.13975479_13975479dupG	ENSP00000405327:p.Thr139fs					ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs	p.T121fs			P50549	ETV1_HUMAN			7	1098_1099	-			139					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Frame_Shift_Ins	INS	ENST00000430479.1	37	c.360_361insC	CCDS55088.1																																																																																				0.530	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		13	359						13	359	---	---	---	---
GPNMB	10457	broad.mit.edu	37	7	23306134	23306135	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:23306134_23306135insT	ENST00000381990.2	+	7	1214_1215	c.1053_1054insT	c.(1054-1056)ggafs	p.G352fs	GPNMB_ENST00000539136.1_Splice_Site|GPNMB_ENST00000453162.2_Frame_Shift_Ins_p.G294fs|GPNMB_ENST00000258733.4_Splice_Site	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	352					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAAACACCCCAGGACCTGCTGG	0.386																																						ENST00000381990.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(1051-1056)ccgaccfs		glycoprotein (transmembrane) nmb																																				SO:0001589	frameshift_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23306134_23306135insT	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	Exception_encountered	7.37:g.23306134_23306135insT	ENSP00000371420:p.Gly352fs					GPNMB_ENST00000453162.2_Frame_Shift_Ins_p.T294fs|GPNMB_ENST00000258733.4_Splice_Site|GPNMB_ENST00000539136.1_Splice_Site	p.T352fs	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		7	1214_1215	+			352					A4D155|Q6UVX1|Q8N1A1	Frame_Shift_Ins	INS	ENST00000381990.2	37	c.1053_1054insT	CCDS34610.1																																																																																				0.386	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		7	108						7	108	---	---	---	---
HOXA9	3205	broad.mit.edu	37	7	27203289	27203289	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:27203289delT	ENST00000343483.6	-	2	824	c.752delA	c.(751-753)aagfs	p.K251fs	HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Frame_Shift_Del_p.K91fs|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000497089.1_5'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	251					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						GAACCAGATCTTGACCTGCCT	0.483			T	"""NUP98, MSI2"""	AML*																																	ENST00000343483.6				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"""NUP98, MSI2"""		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(751-753)agfs		homeobox A9							127.0	128.0	128.0					7																	27203289		2203	4300	6503	SO:0001589	frameshift_variant	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27203289delT		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.752delA	7.37:g.27203289delT	ENSP00000343619:p.Lys251fs					RP1-170O19.20_ENST00000470747.4_Frame_Shift_Del_p.K91fs|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR|HOXA9_ENST00000497089.1_5'UTR	p.K251fs	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN			2	824	-			251					O43369|O43429|Q99820	Frame_Shift_Del	DEL	ENST00000343483.6	37	c.752delA	CCDS5409.1																																																																																				0.483	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			7	495						7	495	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378634	31378635	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:31378634_31378635insT	ENST00000297142.3	-	2	570_571	c.248_249insA	c.(247-249)aagfs	p.K83fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	83					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTTTGTTGTCTTTTTTTTCCT	0.52																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(247-249)aacfs		neuronal differentiation 6																																				SO:0001589	frameshift_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378634_31378635insT	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.249dupA	7.37:g.31378642_31378642dupT	ENSP00000297142:p.Lys83fs						p.N83fs	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	570_571	-			83					Q548T9|Q9H3H6	Frame_Shift_Ins	INS	ENST00000297142.3	37	c.248_249insA	CCDS5434.1																																																																																				0.520	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		8	1100						8	1100	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs|FKBP9_ENST00000538443.1_5'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)accfs		FK506 binding protein 9, 63 kDa																																				SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014803_33014804insC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.384dupC	7.37:g.33014810_33014810dupC	ENSP00000242209:p.Ile126fs					FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|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		10	223						10	223	---	---	---	---
EPDR1	54749	broad.mit.edu	37	7	37988587	37988588	+	Frame_Shift_Ins	INS	-	-	T	rs145911941		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:37988587_37988588insT	ENST00000199448.4	+	2	794_795	c.415_416insT	c.(415-417)atcfs	p.I139fs	EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.I37fs|EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.I259fs|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.I78fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	139					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCAGTACTCCATCGGGGGGCCT	0.51																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(415-417)cggfs		ependymin related 1																																				SO:0001589	frameshift_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988587_37988588insT	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.416dupT	7.37:g.37988588_37988588dupT	ENSP00000199448:p.Ile139fs					EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.R78fs|EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.R259fs|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.R37fs	p.R139fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			2	794_795	+			139					A8K4C0|C9JYS3|Q06BL0|Q99M77	Frame_Shift_Ins	INS	ENST00000199448.4	37	c.415_416insT	CCDS5454.2																																																																																				0.510	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		13	592						13	592	---	---	---	---
POM121C	100101267	broad.mit.edu	37	7	75045496	75045497	+	IGR	INS	-	-	G	rs201842651|rs373431132	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:75045496_75045497insG	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						AGGGTCGTGGAGGGGGGGGATG	0.653																																						ENST00000393633.2																			0				large_intestine(1)|lung(1)	2																																												SO:0001628	intergenic_variant	155400							g.chr7:75045496_75045497insG		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75045504_75045504dupG														0	4280	+								O75115|Q9Y2N3|Q9Y4S7	RNA	INS	ENST00000257665.5	37																																																																																						0.653	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		7	87						7	87	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(574-576)cccfs	p.P192fs	AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.P64fs|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.P190fs|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_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs	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			10	263						10	263	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98592294	98592295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:98592294_98592295insC	ENST00000359863.4	+	66	10299_10300	c.10090_10091insC	c.(10090-10092)accfs	p.T3364fs	TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.T3353fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.T3335fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3364					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTAAAATCACCCCCCACACT	0.54																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(10090-10092)cccfs		transformation/transcription domain-associated protein																																				SO:0001589	frameshift_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98592294_98592295insC	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10096dupC	7.37:g.98592300_98592300dupC	ENSP00000352925:p.Thr3364fs					TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P3335fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P3353fs	p.P3364fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		66	10299_10300	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3364					A4D265|O75218|Q9Y631|Q9Y6H4	Frame_Shift_Ins	INS	ENST00000359863.4	37	c.10090_10091insC	CCDS59066.1																																																																																				0.540	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		12	641						12	641	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98609744	98609745	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:98609744_98609745insA	ENST00000359863.4	+	72	11555_11556	c.11346_11347insA	c.(11347-11349)aaafs	p.K3783fs	TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.K3772fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.K3754fs|AC004893.11_ENST00000360902.1_RNA	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3783	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTGCTTGGCACAAAAAAACACA	0.55																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(11344-11349)caaaaafs		transformation/transcription domain-associated protein																																				SO:0001589	frameshift_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98609744_98609745insA	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11353dupA	7.37:g.98609751_98609751dupA	ENSP00000352925:p.Lys3783fs					TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.QK3753fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.QK3771fs	p.QK3782fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		72	11555_11556	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3782			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Frame_Shift_Ins	INS	ENST00000359863.4	37	c.11346_11347insA	CCDS59066.1																																																																																				0.550	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		7	635						7	635	---	---	---	---
GAL3ST4	79690	broad.mit.edu	37	7	99757596	99757597	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:99757596_99757597insG	ENST00000360039.4	-	4	1807_1808	c.1415_1416insC	c.(1414-1416)cctfs	p.P472fs	GAL3ST4_ENST00000426974.2_Frame_Shift_Ins_p.P410fs|C7orf43_ENST00000419841.1_5'Flank|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Frame_Shift_Ins_p.P472fs|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000411994.1_3'UTR|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000457641.1_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	472					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGAGACGGTAGGGGGGAACTG	0.54																																						ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1414-1416)cacfs		galactose-3-O-sulfotransferase 4																																				SO:0001589	frameshift_variant	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99757596_99757597insG	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1416dupC	7.37:g.99757602_99757602dupG	ENSP00000353142:p.Pro472fs					GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Frame_Shift_Ins_p.H472fs|GAL3ST4_ENST00000426974.2_Frame_Shift_Ins_p.H410fs|GAL3ST4_ENST00000411994.1_3'UTR	p.H472fs	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	1807_1808	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		472					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Frame_Shift_Ins	INS	ENST00000360039.4	37	c.1415_1416insC	CCDS5688.1																																																																																				0.540	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		8	660						8	660	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1005)agccccfs	p.SP334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1000-1002)accfs		speedy/RINGO cell cycle regulator family member E3																																				SO:0001589	frameshift_variant	441272							g.chr7:99912173_99912174insC	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1007dupC	7.37:g.99912179_99912179dupC	ENSP00000329565:p.Ser334fs					SPDYE3_ENST00000437326.2_5'UTR	p.T334fs	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			6	1185_1186	+			334					Q495Y9|Q6PHC4	Frame_Shift_Ins	INS	ENST00000332397.6	37	c.1001_1002insC	CCDS47658.2																																																																																				0.569	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		11	277						11	277	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1170)tgccccfs	p.CP389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.51																																						ENST00000223061.5																			2	Insertion - Frameshift(2)	p.M392fs*>59(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1165-1167)tccfs		procollagen C-endopeptidase enhancer																																				SO:0001589	frameshift_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205413_100205414insC	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1173dupC	7.37:g.100205420_100205420dupC	ENSP00000223061:p.Cys389fs						p.S389fs	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			8	1446_1447	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		389			NTR.		B2R9E1|O14550	Frame_Shift_Ins	INS	ENST00000223061.5	37	c.1166_1167insC	CCDS5700.1																																																																																				0.510	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		24	316						24	316	---	---	---	---
EPHB4	2050	broad.mit.edu	37	7	100404119	100404120	+	Frame_Shift_Ins	INS	-	-	CTGA			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:100404119_100404120insCTGA	ENST00000358173.3	-	14	2874_2875	c.2406_2407insTCAG	c.(2404-2409)gatgccfs	p.A803fs	EPHB4_ENST00000360620.3_Frame_Shift_Ins_p.A803fs	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	803	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TAACTCCAGGCATCACTGGCGG	0.554																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2404-2409)gacctgfs		EPH receptor B4																																				SO:0001589	frameshift_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100404119_100404120insCTGA	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2406_2407insTCAG	7.37:g.100404119_100404120insCTGA	ENSP00000350896:p.Ala803fs					EPHB4_ENST00000360620.3_Frame_Shift_Ins_p.L803fs	p.L803fs	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			14	2874_2875	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		803			Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Frame_Shift_Ins	INS	ENST00000358173.3	37	c.2406_2407insTCAG	CCDS5706.1																																																																																				0.554	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		33	994						33	994	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100479331	100479332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:100479331_100479332insG	ENST00000347433.4	+	4	461_462	c.303_304insG	c.(304-306)gggfs	p.G102fs	SRRT_ENST00000457580.2_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000388793.4_Frame_Shift_Ins_p.G102fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	102					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609																																						ENST00000388793.4																			1	Deletion - Frameshift(1)	p.G104fs*45(1)	ovary(1)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(301-306)gcggggfs		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001589	frameshift_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479331_100479332insG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.311dupG	7.37:g.100479339_100479339dupG	ENSP00000314491:p.Gly102fs					SRRT_ENST00000347433.4_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.AG101fs	p.AG101fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			4	523_524	+			101					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Ins	INS	ENST00000347433.4	37	c.303_304insG	CCDS34709.1																																																																																				0.609	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		19	156						19	156	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-360)atggggfs	p.MG119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(355-357)aggfs		adaptor-related protein complex 1, sigma 1 subunit																																				SO:0001589	frameshift_variant	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100802404_100802405insG	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.364dupG	7.37:g.100802412_100802412dupG	ENSP00000336666:p.Met119fs						p.R119fs	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN			4	474_475	+	Lung NSC(181;0.168)|all_lung(186;0.215)		119					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Ins	INS	ENST00000337619.5	37	c.356_357insG	CCDS47669.1																																																																																				0.564	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		14	150						14	150	---	---	---	---
NAT16	375607	broad.mit.edu	37	7	100817873	100817874	+	Frame_Shift_Ins	INS	-	-	C	rs554248246|rs201666132	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:100817873_100817874insC	ENST00000300303.2	-	2	453_454	c.215_216insG	c.(214-216)ggcfs	p.G72fs	NAT16_ENST00000455377.1_Frame_Shift_Ins_p.G72fs|NAT16_ENST00000443096.1_Frame_Shift_Ins_p.G72fs	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	72	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										CGCCGTAGATGCCCCCCGAGAT	0.678																																						ENST00000300303.2																			0											c.(214-216)gatfs		N-acetyltransferase 16 (GCN5-related, putative)				0,4264		0,0,2132						3.7	0.0			54	1,8253		0,1,4126	no	frameshift	C7orf52	NM_198571.2		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	375607						N-acetyltransferase activity	g.chr7:100817873_100817874insC	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.216dupG	7.37:g.100817879_100817879dupC	ENSP00000300303:p.Gly72fs					NAT16_ENST00000443096.1_Frame_Shift_Ins_p.D72fs|NAT16_ENST00000455377.1_Frame_Shift_Ins_p.D72fs	p.D72fs	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN			2	453_454	-			72			N-acetyltransferase.		B3KRS2|Q8NDR1	Frame_Shift_Ins	INS	ENST00000300303.2	37	c.215_216insG	CCDS5713.1																																																																																				0.678	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		7	133						7	133	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:100856125_100856126insC	ENST00000223127.3	-	8	1274_1275	c.876_877insG	c.(874-879)gggcagfs	p.Q293fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	293					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCACCTGCCCCCCCGGGA	0.673																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(874-879)ggagccfs		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)			29,4225		1,27,2099						4.0	1.0			29	20,8212		0,20,4096	no	frameshift	PLOD3	NM_001084.4		1,47,6195	A1A1,A1R,RR		0.243,0.6817,0.3924				49,12437				SO:0001589	frameshift_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100856125_100856126insC	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.877dupG	7.37:g.100856132_100856132dupC	ENSP00000223127:p.Gln293fs						p.A293fs	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			8	1274_1275	-	Lung NSC(181;0.168)|all_lung(186;0.215)		293					B2R6W6|Q540C3	Frame_Shift_Ins	INS	ENST00000223127.3	37	c.876_877insG	CCDS5715.1																																																																																				0.673	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			13	120						13	120	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107572729	107572730	+	Frame_Shift_Ins	INS	-	-	C	rs57244800	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:107572729_107572730insC	ENST00000222399.6	-	28	4511_4512	c.4281_4282insG	c.(4279-4284)gggcctfs	p.P1428fs	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Frame_Shift_Ins_p.P1452fs	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1428	Domain alpha.				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						CCACAGCCAGGCCCCCCACACT	0.584																																						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.(4351-4356)ggctggfs		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			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.chr7:107572729_107572730insC	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.4282dupG	7.37:g.107572735_107572735dupC	ENSP00000222399:p.Pro1428fs					LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.W1428fs|LAMB1_ENST00000474380.1_5'UTR	p.W1452fs			P07942	LAMB1_HUMAN			26	4537_4538	-			1428			Domain I.		Q14D91	Frame_Shift_Ins	INS	ENST00000222399.6	37	c.4353_4354insG	CCDS5750.1																																																																																				0.584	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		11	386						11	386	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111418424	111418425	+	Splice_Site	INS	-	-	GA			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:111418424_111418425insGA	ENST00000437633.1	-	35	3815_3816	c.3559_3560insTC	c.(3559-3561)aac>aTCac	p.N1187fs	DOCK4_ENST00000494651.2_Splice_Site_p.N70fs|DOCK4_ENST00000428084.1_Splice_Site_p.N1196fs	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1187					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTTATAGAAGTTCTGTAAAAAA	0.381																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.e36-1		dedicator of cytokinesis 4																																				SO:0001630	splice_region_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111418424_111418425insGA		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3559-1->TC	7.37:g.111418424_111418425insGA						DOCK4_ENST00000437633.1_Splice_Site_p.L1187_splice|DOCK4_ENST00000494651.2_Splice_Site_p.L70_splice	p.L1196_splice			Q8N1I0	DOCK4_HUMAN			36	3858_3859	-		Acute lymphoblastic leukemia(1;0.0441)	1187			DHR-2.		O14584|O94824|Q8NB45	Splice_Site	INS	ENST00000437633.1	37	c.3585_splice	CCDS47688.1																																																																																				0.381	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	Frame_Shift_Ins	14	220						14	220	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131195812	131195813	+	Frame_Shift_Ins	INS	-	-	C	rs560608639	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:131195812_131195813insC	ENST00000378555.3	-	2	727_728	c.480_481insG	c.(478-483)gggaaafs	p.K161fs	PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000322985.9_Frame_Shift_Ins_p.K161fs|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.K161fs|PODXL_ENST00000541194.1_Frame_Shift_Ins_p.K163fs			O00592	PODXL_HUMAN	podocalyxin-like	161	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.K161E(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGGCTGCTTTTCCCCCCAGAGT	0.525																																						ENST00000541194.1																			1	Substitution - Missense(1)	p.K161E(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(484-489)ggaaagfs		podocalyxin-like																																				SO:0001589	frameshift_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131195812_131195813insC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.481dupG	7.37:g.131195818_131195818dupC	ENSP00000367817:p.Lys161fs					PODXL_ENST00000378555.3_Frame_Shift_Ins_p.GK160fs|PODXL_ENST00000322985.9_Frame_Shift_Ins_p.GK160fs|PODXL_ENST00000537928.1_Frame_Shift_Ins_p.GK160fs	p.GK162fs	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			2	743_744	-	Melanoma(18;0.162)		160			Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Frame_Shift_Ins	INS	ENST00000378555.3	37	c.486_487insG	CCDS34755.1																																																																																				0.525	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		7	542						7	542	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)gggctafs	p.L642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.5																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1921-1926)ggtagcfs		Kell blood group, metallo-endopeptidase																																				SO:0001589	frameshift_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639979_142639980insC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1924dupG	7.37:g.142639985_142639985dupC	ENSP00000347409:p.Leu642fs						p.S642fs	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			17	2397_2398	-	Melanoma(164;0.059)		642					B2RBV4|Q96RS8|Q99885	Frame_Shift_Ins	INS	ENST00000355265.2	37	c.1923_1924insG	CCDS34766.1																																																																																				0.500	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		17	950						17	950	---	---	---	---
OR2A25	392138	broad.mit.edu	37	7	143771314	143771315	+	Start_Codon_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:143771314_143771315insG	ENST00000408898.2	+	0	40_41					NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TACAGGGAAATGGGGGGAAATC	0.441																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24								olfactory receptor, family 2, subfamily A, member 25																																				SO:0001582	initiator_codon_variant	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771314_143771315insG		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.8dupG	7.37:g.143771320_143771320dupG								NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			0	40_41	+	Melanoma(164;0.0783)							B2RNC9	Translation_Start_Site	INS	ENST00000408898.2	37		CCDS43669.1																																																																																				0.441	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			9	209						9	209	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150814456	150814457	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:150814456_150814457insG	ENST00000463381.1	+	4	290		c.e4-1		AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000335367.3_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_ENST00000335367.3_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000463381.1_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	9	390						9	390	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3838-3840)gggfs	p.G1280fs	MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.G705fs|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1280					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(3835-3840)atggggfs		myomesin 2																																				SO:0001589	frameshift_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2088682_2088683insG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3843dupG	8.37:g.2088688_2088688dupG	ENSP00000262113:p.Gly1280fs					MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR	p.MG1279fs	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	33	3978_3979	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1279					Q7Z3Y2	Frame_Shift_Ins	INS	ENST00000262113.4	37	c.3837_3838insG	CCDS5957.1																																																																																				0.446	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		13	668						13	668	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	745	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2233-2235)del		deleted in liver cancer 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957611_12957613delGCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2233_2235delAGC	8.37:g.12957620_12957622delGCT	ENSP00000276297:p.Ser745del					DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del	p.S745del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2642_2644	-			745			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.2233_2235delAGC	CCDS5989.1																																																																																				0.621	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	431						8	431	---	---	---	---
SLC18A1	6570	broad.mit.edu	37	8	20004787	20004788	+	Frame_Shift_Ins	INS	-	-	G	rs539049307	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:20004787_20004788insG	ENST00000276373.5	-	15	1711_1712	c.1445_1446insC	c.(1444-1446)ccgfs	p.P482fs	SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.P450fs|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.P450fs|SLC18A1_ENST00000440926.1_Frame_Shift_Ins_p.P482fs|SLC18A1_ENST00000381608.4_Intron	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	482					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CTTCCTTTGCCGGGGGGCTCCG	0.5																																						ENST00000440926.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1444-1446)cgcfs		solute carrier family 18 (vesicular monoamine transporter), member 1			,,,	0,4264		0,0,2132					,,,	-1.9	1.0			62	4,8250		0,4,4123	no	frameshift,intron,frameshift,frameshift	SLC18A1	NM_003053.3,NM_001142325.1,NM_001142324.1,NM_001135691.2	,,,	0,4,6255	A1A1,A1R,RR		0.0485,0.0,0.032	,,,	,,,		4,12514				SO:0001589	frameshift_variant	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20004787_20004788insG		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1446dupC	8.37:g.20004793_20004793dupG	ENSP00000276373:p.Pro482fs					SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs	p.R482fs	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	16	1915_1916	-			482					E9PDJ5|Q9BRE4	Frame_Shift_Ins	INS	ENST00000276373.5	37	c.1445_1446insC	CCDS6013.1																																																																																				0.500	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			12	610						12	610	---	---	---	---
SORBS3	10174	broad.mit.edu	37	8	22414410	22414411	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:22414410_22414411insC	ENST00000240123.7	+	4	786_787	c.403_404insC	c.(403-405)gccfs	p.A135fs	SORBS3_ENST00000523402.1_Frame_Shift_Ins_p.A135fs	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	135	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CATGCCCATTGCCCCCCGATCC	0.634																																						ENST00000240123.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(403-405)cccfs		sorbin and SH3 domain containing 3																																				SO:0001589	frameshift_variant	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22414410_22414411insC		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.409dupC	8.37:g.22414416_22414416dupC	ENSP00000240123:p.Ala135fs					SORBS3_ENST00000523402.1_Frame_Shift_Ins_p.P135fs	p.P135fs	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	4	786_787	+		Prostate(55;0.0421)|Breast(100;0.102)	135			SoHo.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Frame_Shift_Ins	INS	ENST00000240123.7	37	c.403_404insC	CCDS6031.1																																																																																				0.634	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		12	421						12	421	---	---	---	---
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1681-1683)cccfs	p.P561fs	DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.P525fs|DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.P525fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	561					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(1678-1683)gcccccfs		dihydropyrimidinase-like 2																																				SO:0001589	frameshift_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26513183_26513184insC	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1686dupC	8.37:g.26513189_26513189dupC	ENSP00000309539:p.Pro561fs		OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	787	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs	p.AP560fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	14	2092_2093	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	560					A8K5H2|B4DR31|D3DSS7|O00424	Frame_Shift_Ins	INS	ENST00000311151.5	37	c.1680_1681insC	CCDS6051.1																																																																																				0.644	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		10	445						10	445	---	---	---	---
INTS9	55756	broad.mit.edu	37	8	28633353	28633354	+	Frame_Shift_Ins	INS	-	-	G	rs148560235		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:28633353_28633354insG	ENST00000521022.1	-	14	1566_1567	c.1485_1486insC	c.(1483-1488)cccgccfs	p.A496fs	INTS9_ENST00000521777.1_Frame_Shift_Ins_p.A472fs|INTS9_ENST00000521070.1_5'Flank|INTS9_ENST00000416984.2_Frame_Shift_Ins_p.A475fs|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_ENST00000521777.1_Frame_Shift_Ins_p.H472fs|INTS9_ENST00000521022.1_Frame_Shift_Ins_p.H496fs|INTS9_ENST00000397363.4_Frame_Shift_Ins_p.H390fs	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		7	301						7	301	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41834603	41834604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:41834603_41834604insC	ENST00000396930.3	-	8	1828_1829	c.1285_1286insG	c.(1285-1287)gaafs	p.E429fs	KAT6A_ENST00000265713.2_Frame_Shift_Ins_p.E429fs|KAT6A_ENST00000406337.1_Frame_Shift_Ins_p.E429fs|KAT6A_ENST00000485568.1_Frame_Shift_Ins_p.E429fs	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	429	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GTCCACCACTTCCCCCCGAGCT	0.465																																						ENST00000396930.3																			0											c.(1285-1287)agtfs		K(lysine) acetyltransferase 6A																																				SO:0001589	frameshift_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41834603_41834604insC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1286dupG	8.37:g.41834609_41834609dupC	ENSP00000380136:p.Glu429fs					KAT6A_ENST00000406337.1_Frame_Shift_Ins_p.S429fs|KAT6A_ENST00000485568.1_Frame_Shift_Ins_p.S429fs|KAT6A_ENST00000265713.2_Frame_Shift_Ins_p.S429fs	p.S429fs	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			8	1828_1829	-			429			Interaction with RUNX1-1.		Q76L81	Frame_Shift_Ins	INS	ENST00000396930.3	37	c.1285_1286insG	CCDS6124.1																																																																																				0.465	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	292						7	292	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41836183	41836184	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:41836183_41836184insT	ENST00000396930.3	-	7	1562_1563	c.1019_1020insA	c.(1018-1020)aacfs	p.N340fs	KAT6A_ENST00000265713.2_Frame_Shift_Ins_p.N340fs|KAT6A_ENST00000406337.1_Frame_Shift_Ins_p.N340fs|KAT6A_ENST00000485568.1_Frame_Shift_Ins_p.N340fs	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	340	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCTTTAACCTGTTTTTTGGACG	0.401																																						ENST00000396930.3																			0											c.(1018-1020)aagfs		K(lysine) acetyltransferase 6A																																				SO:0001589	frameshift_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41836183_41836184insT	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1020dupA	8.37:g.41836189_41836189dupT	ENSP00000380136:p.Asn340fs					KAT6A_ENST00000406337.1_Frame_Shift_Ins_p.K340fs|KAT6A_ENST00000485568.1_Frame_Shift_Ins_p.K340fs|KAT6A_ENST00000265713.2_Frame_Shift_Ins_p.K340fs	p.K340fs	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			7	1562_1563	-			340			Interaction with RUNX1-1.		Q76L81	Frame_Shift_Ins	INS	ENST00000396930.3	37	c.1019_1020insA	CCDS6124.1																																																																																				0.401	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		9	629						9	629	---	---	---	---
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)gccfs	p.A13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	13					brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										GAGAGGCCTCGCCCCCCGAGAG	0.54																																						ENST00000331373.5																			0											c.(37-39)cccfs						3,4261		0,3,2129						-9.6	0.0			82	3,8251		0,3,4124	no	frameshift	SGK196	NM_032237.3		0,6,6253	A1A1,A1R,RR		0.0363,0.0704,0.0479				6,12512				SO:0001589	frameshift_variant	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42958728_42958729insC		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.43dupC	8.37:g.42958734_42958734dupC	ENSP00000331258:p.Ala13fs						p.P13fs	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN			4	292_293	+			13						Frame_Shift_Ins	INS	ENST00000331373.5	37	c.37_38insC	CCDS6141.1																																																																																				0.540	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		10	136						10	136	---	---	---	---
PLAG1	5324	broad.mit.edu	37	8	57078931	57078932	+	Frame_Shift_Ins	INS	-	-	G	rs144552372		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:57078931_57078932insG	ENST00000316981.3	-	5	1852_1853	c.1373_1374insC	c.(1372-1374)ccafs	p.P458fs	PLAG1_ENST00000423799.2_Frame_Shift_Ins_p.P376fs|PLAG1_ENST00000429357.2_Frame_Shift_Ins_p.P458fs	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	458	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.		P -> T (in dbSNP:rs35883156). {ECO:0000269|PubMed:9020842}.		gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CCTGTGTTTGTGGGGGGAGCTG	0.49			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1372-1374)ccafs		pleiomorphic adenoma gene 1																																				SO:0001589	frameshift_variant	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57078931_57078932insG	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1374dupC	8.37:g.57078937_57078937dupG	ENSP00000325546:p.Pro458fs					PLAG1_ENST00000423799.2_Frame_Shift_Ins_p.P376fs|PLAG1_ENST00000429357.2_Frame_Shift_Ins_p.P458fs	p.P458fs	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	1852_1853	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	458		P -> T (in dbSNP:rs35883156).	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.		B4DLC2|Q59GH8|Q9Y4L2	Frame_Shift_Ins	INS	ENST00000316981.3	37	c.1373_1374insC	CCDS6165.1																																																																																				0.490	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		13	450						13	450	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4654-4656)cccfs		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68128855_68128856insG	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4656dupC	8.37:g.68128862_68128862dupG	ENSP00000262215:p.Pro1552fs					ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	p.P1552fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		33	5044_5045	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1552					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	ENST00000262215.3	37	c.4655_4656insC	CCDS6199.1																																																																																				0.421	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		7	143						7	143	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G	rs201774043		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(217-219)gggfs	p.G73fs	SULF1_ENST00000419716.3_Frame_Shift_Ins_p.G73fs|SULF1_ENST00000402687.4_Frame_Shift_Ins_p.G73fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.G73fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	73					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(214-219)caggggfs		sulfatase 1																																				SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70488248_70488249insG	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.223dupG	8.37:g.70488255_70488255dupG	ENSP00000260128:p.Gly73fs					SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs	p.QG72fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		6	933_934	+	Breast(64;0.0654)		72					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Ins	INS	ENST00000260128.4	37	c.216_217insG	CCDS6204.1																																																																																				0.495	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		12	130						12	130	---	---	---	---
JPH1	56704	broad.mit.edu	37	8	75156987	75156988	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:75156987_75156988insG	ENST00000342232.4	-	4	1721_1722	c.1681_1682insC	c.(1681-1683)cagfs	p.Q561fs	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	561					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|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)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TGGAGGGTGCTGGGGGGCGTTC	0.594																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1681-1683)gcafs		junctophilin 1																																				SO:0001589	frameshift_variant	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75156987_75156988insG	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1682dupC	8.37:g.75156993_75156993dupG	ENSP00000344488:p.Gln561fs					JPH1_ENST00000518195.1_5'UTR	p.A561fs	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		4	1721_1722	-	Breast(64;0.00576)		561					B2RTZ0	Frame_Shift_Ins	INS	ENST00000342232.4	37	c.1681_1682insC	CCDS6217.1																																																																																				0.594	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			8	165						8	165	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92261931	92261932	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:92261931_92261932insC	ENST00000276609.3	+	2	291_292	c.52_53insC	c.(52-54)accfs	p.T18fs	SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.T18fs|SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.T18fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAAGATGCATACCCCCCAGTGT	0.396																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(52-54)cccfs		solute carrier family 26 (anion exchanger), member 7																																				SO:0001589	frameshift_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92261931_92261932insC	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.58dupC	8.37:g.92261937_92261937dupC	ENSP00000276609:p.Thr18fs					SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.P18fs|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.P18fs	p.P18fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		2	291_292	+			18						Frame_Shift_Ins	INS	ENST00000276609.3	37	c.52_53insC	CCDS6254.1																																																																																				0.396	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			7	256						7	256	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168467	99168468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:99168467_99168468insA	ENST00000401707.2	+	15	2328_2329	c.2247_2248insA	c.(2248-2250)aaafs	p.K750fs	POP1_ENST00000349693.3_Frame_Shift_Ins_p.K750fs	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	750					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTCCCATGCCTAAAAAAACTCA	0.51																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2245-2250)ccaaaafs		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001589	frameshift_variant	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99168467_99168468insA	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2254dupA	8.37:g.99168474_99168474dupA	ENSP00000385787:p.Lys750fs					POP1_ENST00000349693.3_Frame_Shift_Ins_p.PK749fs	p.PK749fs	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		15	2328_2329	+	Breast(36;1.78e-06)		749					A8K5W9|Q15037	Frame_Shift_Ins	INS	ENST00000401707.2	37	c.2247_2248insA	CCDS6277.1																																																																																				0.510	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		8	961						8	961	---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101724994	101724995	+	Frame_Shift_Ins	INS	-	-	A	rs140822921		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:101724994_101724995insA	ENST00000318607.5	-	6	1889_1890	c.761_762insT	c.(760-762)aagfs	p.K254fs	PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.K209fs|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.K222fs|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	254	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(760-762)agafs		poly(A) binding protein, cytoplasmic 1																																				SO:0001589	frameshift_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101724994_101724995insA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.761_762insT	8.37:g.101724994_101724995insA	ENSP00000313007:p.Lys254fs					PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs	p.R254fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		6	1889_1890	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		254			CSDE1-binding.|RRM 3.		Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	c.761_762insT	CCDS6289.1																																																																																				0.371	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		11	132						11	132	---	---	---	---
MTBP	27085	broad.mit.edu	37	8	121457738	121457739	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:121457738_121457739insG	ENST00000305949.1	+	1	73_74	c.28_29insG	c.(28-30)tggfs	p.W10fs	MRPL13_ENST00000306185.3_5'Flank	NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	10					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GCTGGTGATCTGGGGGGAAGGA	0.589																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(28-30)gggfs		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa																																				SO:0001589	frameshift_variant	27085				cell cycle arrest			g.chr8:121457738_121457739insG		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.34dupG	8.37:g.121457744_121457744dupG	ENSP00000303398:p.Trp10fs						p.G10fs	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		1	73_74	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		10					B4DUR5|Q9HA89	Frame_Shift_Ins	INS	ENST00000305949.1	37	c.28_29insG	CCDS6333.1																																																																																				0.589	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		9	246						9	246	---	---	---	---
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		8	221						8	221	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131124498	131124499	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:131124498_131124499insG	ENST00000518721.1	-	24	2469_2470	c.2242_2243insC	c.(2242-2244)cagfs	p.Q748fs	ASAP1_ENST00000357668.1_Frame_Shift_Ins_p.Q748fs	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	748					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGCTTGTCCTGGGGGGAGATG	0.535																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2242-2244)ggafs		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1																																				SO:0001589	frameshift_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131124498_131124499insG	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2243dupC	8.37:g.131124504_131124504dupG	ENSP00000429900:p.Gln748fs					ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.G748fs	p.G748fs			Q9ULH1	ASAP1_HUMAN			23	2269_2270	-			748					B2RNV3	Frame_Shift_Ins	INS	ENST00000518721.1	37	c.2242_2243insC	CCDS6362.1																																																																																				0.535	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		8	379						8	379	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-	rs569686873|rs370051574		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)gagdel	p.E1039del	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)del		KN motif and ankyrin repeat domains 1			,	16,0,4248		0,0,16,0,0,2116					,	5.3	1.0		dbSNP_132	135	3,2,8249		0,0,3,1,0,4123	no	codingComplex,codingComplex	KANK1	NM_153186.3,NM_015158.2	,	0,0,19,1,0,6239	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.3752,0.1678	,	,		19,2,12497				SO:0001651	inframe_deletion	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732475_732477delGAG	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3103_3105delGAG	9.37:g.732484_732486delGAG	ENSP00000371740:p.Glu1039del					KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR	p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3755_3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1039					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	In_Frame_Del	DEL	ENST00000382303.1	37	c.3103_3105delGAG	CCDS34976.1																																																																																				0.463	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		10	1330						10	1330	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:14823286_14823287insG	ENST00000380880.3	-	13	2991_2992	c.2208_2209insC	c.(2206-2211)cccatgfs	p.M737fs	FREM1_ENST00000422223.2_Frame_Shift_Ins_p.M737fs|FREM1_ENST00000380881.4_Frame_Shift_Ins_p.M738fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2209-2214)cctgcafs		FRAS1 related extracellular matrix 1																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823286_14823287insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2209dupC	9.37:g.14823292_14823292dupG	ENSP00000370262:p.Met737fs					FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs	p.A738fs			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	14	3026_3027	-			737					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.2211_2212insC	CCDS47952.1																																																																																				0.441	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		20	1547						20	1547	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16436374	16436375	+	Frame_Shift_Ins	INS	-	-	G	rs116528562|rs142872531	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:16436374_16436375insG	ENST00000380672.4	-	6	1874_1875	c.1817_1818insC	c.(1816-1818)ccgfs	p.P606fs	BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs|BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGAGGGTGGCGGGGGGTGCTG	0.564																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1816-1818)cccfs		basonuclin 2																																				SO:0001589	frameshift_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436374_16436375insG	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1818dupC	9.37:g.16436380_16436380dupG	ENSP00000370047:p.Pro606fs					BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs|BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs	p.P606fs	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1874_1875	-			606			Pro-rich.			Frame_Shift_Ins	INS	ENST00000380672.4	37	c.1817_1818insC	CCDS6482.2																																																																																				0.564	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		11	642						11	642	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27172694	27172695	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:27172694_27172695delAC	ENST00000380036.4	+	5	1151_1152	c.709_710delAC	c.(709-711)actfs	p.T237fs	TEK_ENST00000406359.4_Frame_Shift_Del_p.T237fs|TEK_ENST00000519097.1_Frame_Shift_Del_p.T133fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	237	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	CCATGAAGATACTGGAGAATGC	0.436																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(709-711)tfs		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.chr9:27172694_27172695delAC	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.709_710delAC	9.37:g.27172694_27172695delAC	ENSP00000369375:p.Thr237fs					TEK_ENST00000406359.4_Frame_Shift_Del_p.T237fs|TEK_ENST00000519097.1_Frame_Shift_Del_p.T133fs	p.T237fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	5	1151_1152	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	237			EGF-like 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Del	DEL	ENST00000380036.4	37	c.709_710delAC	CCDS6519.1																																																																																				0.436	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			22	178						22	178	---	---	---	---
FAM219A	203259	broad.mit.edu	37	9	34401027	34401028	+	Frame_Shift_Ins	INS	-	-	G	rs202019820		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:34401027_34401028insG	ENST00000445726.1	-	6	798_799	c.492_493insC	c.(490-495)cccaagfs	p.K165fs	FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.K148fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.K152fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.K146fs|FAM219A_ENST00000379084.1_Splice_Site_p.N147fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.K136fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.K163fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	165																	TTCACGGACTTGGGGGGGATGA	0.644																																						ENST00000445726.1																			0											c.(490-495)ccagtcfs		family with sequence similarity 219, member A																																				SO:0001589	frameshift_variant	203259							g.chr9:34401027_34401028insG	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.493dupC	9.37:g.34401034_34401034dupG	ENSP00000392452:p.Lys165fs					FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs	p.V165fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN			6	798_799	-			165					A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Frame_Shift_Ins	INS	ENST00000445726.1	37	c.492_493insC	CCDS55304.1																																																																																				0.644	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940		7	122						7	122	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccactfs	p.T788fs	PIGO_ENST00000341666.3_Frame_Shift_Ins_p.T788fs|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604																																						ENST00000378617.3																			1	Insertion - Frameshift(1)	p.T788fs*5(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2359-2364)cccttcfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091522_35091523insG	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2362dupC	9.37:g.35091529_35091529dupG	ENSP00000367880:p.Thr788fs					PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000361778.2_Intron	p.F788fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2755_2756	-			788					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.2361_2362insC	CCDS6575.1																																																																																				0.604	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		12	231						12	231	---	---	---	---
NPR2	4882	broad.mit.edu	37	9	35809224	35809225	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:35809224_35809225insG	ENST00000342694.2	+	21	3313_3314	c.3058_3059insG	c.(3058-3060)cggfs	p.R1020fs	SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000340291.2_Intron|AL133410.1_ENST00000582432.1_RNA	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	1020					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GCTAGAGCTTCGGGGGGATGTG	0.559																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(3058-3060)gggfs		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)																																			SO:0001589	frameshift_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35809224_35809225insG	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.3064dupG	9.37:g.35809230_35809230dupG	ENSP00000341083:p.Arg1020fs					SPAG8_ENST00000340291.2_Intron	p.G1020fs	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		21	3313_3314	+	all_epithelial(49;0.161)		1020					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Frame_Shift_Ins	INS	ENST00000342694.2	37	c.3058_3059insG	CCDS6590.1																																																																																				0.559	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			10	407						10	407	---	---	---	---
NPR2	4882	broad.mit.edu	37	9	35809952	35809953	+	IGR	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:35809952_35809953insC	ENST00000342694.2	+	0	3686				SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Intron|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000396638.2_Frame_Shift_Ins_p.R481fs|SPAG8_ENST00000484764.1_Frame_Shift_Ins_p.R473fs	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGAGTCATTCTCCCCCCTCCAC	0.505																																						ENST00000484764.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1414-1419)gggaatfs		sperm associated antigen 8																																				SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35809952_35809953insC	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35809958_35809958dupC						SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Frame_Shift_Ins_p.N481fs	p.N473fs			Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		7	1456_1457	-	all_epithelial(49;0.161)		0					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Frame_Shift_Ins	INS	ENST00000342694.2	37	c.1416_1417insG	CCDS6590.1																																																																																				0.505	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			9	555						9	555	---	---	---	---
GLIPR2	152007	broad.mit.edu	37	9	36147846	36147847	+	Frame_Shift_Ins	INS	-	-	C	rs60088684	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:36147846_36147847insC	ENST00000377960.4	+	2	111_112	c.77_78insC	c.(76-81)gtccccfs	p.VP26fs	GLIPR2_ENST00000377959.1_Frame_Shift_Ins_p.VP26fs|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	26	SCP.				positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						AAGCACGGCGTCCCCCCACTGA	0.54																																						ENST00000377960.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						c.(76-78)gccfs		GLI pathogenesis-related 2																																				SO:0001589	frameshift_variant	152007					extracellular region|Golgi membrane		g.chr9:36147846_36147847insC	AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"""chromosome 9 open reading frame 19"""	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.83dupC	9.37:g.36147852_36147852dupC	ENSP00000367196:p.Val26fs					GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Frame_Shift_Ins_p.A26fs	p.A26fs	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN			2	111_112	+			26					Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Frame_Shift_Ins	INS	ENST00000377960.4	37	c.77_78insC	CCDS6598.1																																																																																				0.540	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	NM_022343		9	603						9	603	---	---	---	---
RNF38	152006	broad.mit.edu	37	9	36353239	36353240	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:36353239_36353240insG	ENST00000259605.6	-	7	1105_1106	c.998_999insC	c.(997-999)ccafs	p.P333fs	RNF38_ENST00000357058.3_Frame_Shift_Ins_p.P250fs|RNF38_ENST00000350199.4_Frame_Shift_Ins_p.P250fs|RNF38_ENST00000377877.4_Frame_Shift_Ins_p.P257fs|RNF38_ENST00000377885.2_Frame_Shift_Ins_p.P250fs|RNF38_ENST00000353739.4_Frame_Shift_Ins_p.P283fs	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	333	Pro-rich.				male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGGTAATGTTGGGGGGTGGGC	0.46																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(748-750)cacfs		ring finger protein 38																																				SO:0001589	frameshift_variant	152006						zinc ion binding	g.chr9:36353239_36353240insG		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.999dupC	9.37:g.36353245_36353245dupG	ENSP00000259605:p.Pro333fs					RNF38_ENST00000377885.2_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000350199.4_Frame_Shift_Ins_p.H250fs|RNF38_ENST00000259605.6_Frame_Shift_Ins_p.H333fs|RNF38_ENST00000377877.4_Frame_Shift_Ins_p.H257fs|RNF38_ENST00000353739.4_Frame_Shift_Ins_p.H283fs	p.H250fs	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		7	1355_1356	-			333			Pro-rich.		A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Frame_Shift_Ins	INS	ENST00000259605.6	37	c.749_750insC	CCDS6603.1																																																																																				0.460	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		9	398						9	398	---	---	---	---
APBA1	320	broad.mit.edu	37	9	72047492	72047493	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:72047492_72047493insG	ENST00000265381.4	-	12	2623_2624	c.2401_2402insC	c.(2401-2403)cacfs	p.H801fs		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	801	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GATCTTCTCGTGGGGGGTGGCC	0.624																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(2401-2403)cgafs		amyloid beta (A4) precursor protein-binding, family A, member 1																																				SO:0001589	frameshift_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72047492_72047493insG	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2402dupC	9.37:g.72047498_72047498dupG	ENSP00000265381:p.His801fs						p.R801fs	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			12	2623_2624	-			801			PDZ 2.		O14914|O60570|Q5VYR8	Frame_Shift_Ins	INS	ENST00000265381.4	37	c.2401_2402insC	CCDS6630.1																																																																																				0.624	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		7	302						7	302	---	---	---	---
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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			9	399						9	399	---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98209616	98209617	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:98209616_98209617insG	ENST00000331920.6	-	23	4220_4221	c.3921_3922insC	c.(3919-3924)cccagafs	p.R1308fs	PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.R1157fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.R1157fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.R1307fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.R1157fs|PTCH1_ENST00000430669.2_Frame_Shift_Ins_p.R1242fs|PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.R1242fs	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1308					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.R1308G(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGCCTTCTCTGGGGGGGTCCC	0.663																																						ENST00000430669.2																			1	Substitution - Missense(1)	p.R1308G(1)	lung(1)	NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(3721-3726)ccgagafs		patched 1																																				SO:0001589	frameshift_variant	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98209616_98209617insG	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3922dupC	9.37:g.98209623_98209623dupG	ENSP00000332353:p.Arg1308fs					PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.R1307fs|PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.R1242fs|PTCH1_ENST00000331920.6_Frame_Shift_Ins_p.R1308fs|PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.R1157fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.R1157fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.R1157fs	p.R1242fs			Q13635	PTC1_HUMAN			23	4308_4309	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1308		E -> K (in squamous cell carcinoma).			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Ins	INS	ENST00000331920.6	37	c.3723_3724insC	CCDS6714.1																																																																																				0.663	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		7	74						7	74	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:100082417_100082418insC	ENST00000357054.1	+	25	2573_2574	c.1638_1639insC	c.(1639-1641)cccfs	p.P547fs	CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.P507fs|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.P405fs|CCDC180_ENST00000375202.2_Frame_Shift_Ins_p.P408fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.P408fs			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_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs|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		16	931						16	931	---	---	---	---
TSTD2	158427	broad.mit.edu	37	9	100389762	100389763	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:100389762_100389763insG	ENST00000341170.4	-	2	464_465	c.82_83insC	c.(82-84)atgfs	p.M28fs	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	28										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AATAAGACTCATATCTTTTAAA	0.376																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(82-84)gagfs		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2																																				SO:0001589	frameshift_variant	158427							g.chr9:100389762_100389763insG	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.82_83insC	9.37:g.100389762_100389763insG	ENSP00000342499:p.Met28fs					TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000354801.2_5'UTR	p.E28fs	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			2	464_465	-			28					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Frame_Shift_Ins	INS	ENST00000341170.4	37	c.82_83insC	CCDS6727.2																																																																																				0.376	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		16	331						16	331	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)ggcfs	p.G592fs	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTAGGCGAAGCCCCCCCAGAC	0.54																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1774-1776)gttfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593322_107593323insC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1776dupG	9.37:g.107593329_107593329dupC	ENSP00000363868:p.Gly592fs						p.V592fs	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2169_2170	-			592					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Ins	INS	ENST00000374736.3	37	c.1775_1776insG	CCDS6762.1																																																																																				0.540	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		22	359						22	359	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5412)ttggggfs	p.LG1803fs	ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.LG1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.LG648fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.55																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5407-5409)tggfs		zinc finger protein 462																																				SO:0001589	frameshift_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691601_109691602insG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5414dupG	9.37:g.109691607_109691607dupG	ENSP00000277225:p.Leu1803fs					ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs|ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs	p.W1803fs			Q96JM2	ZN462_HUMAN			3	5697_5698	+			1803					Q5T0T4|Q8N408	Frame_Shift_Ins	INS	ENST00000277225.5	37	c.5408_5409insG	CCDS35096.1																																																																																				0.550	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		10	647						10	647	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		18	635						18	635	---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123169393	123169394	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:123169393_123169394delCT	ENST00000349780.4	-	32	5038_5039	c.4859_4860delAG	c.(4858-4860)aagfs	p.K1620fs	CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000360822.3_Frame_Shift_Del_p.K1588fs|CDK5RAP2_ENST00000359309.3_Frame_Shift_Del_p.K1579fs	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1620					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCAGCTGTTCCTTGAGCCTGCT	0.594																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(4858-4860)afs		CDK5 regulatory subunit associated protein 2																																				SO:0001589	frameshift_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123169393_123169394delCT	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4859_4860delAG	9.37:g.123169393_123169394delCT	ENSP00000343818:p.Lys1620fs					CDK5RAP2_ENST00000359309.3_Frame_Shift_Del_p.K1579fs|CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000360822.3_Frame_Shift_Del_p.K1588fs	p.K1620fs	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			32	5038_5039	-			1620					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Frame_Shift_Del	DEL	ENST00000349780.4	37	c.4859_4860delAG	CCDS6823.1																																																																																				0.594	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		37	682						37	682	---	---	---	---
RAPGEF1	2889	broad.mit.edu	37	9	134504526	134504527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:134504526_134504527insG	ENST00000372189.3	-	7	927_928	c.804_805insC	c.(802-807)cccaagfs	p.K269fs	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Frame_Shift_Ins_p.K287fs|RAPGEF1_ENST00000372195.1_Frame_Shift_Ins_p.K286fs	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	269					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AGAGGAGGCTTGGGGGGCGCGA	0.54																																						ENST00000372195.1																			0				NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(853-858)ccagccfs		Rap guanine nucleotide exchange factor (GEF) 1																																				SO:0001589	frameshift_variant	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134504526_134504527insG	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.805dupC	9.37:g.134504532_134504532dupG	ENSP00000361263:p.Lys269fs					RAPGEF1_ENST00000372189.3_Frame_Shift_Ins_p.A269fs|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Frame_Shift_Ins_p.A287fs	p.A286fs			Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	7	1098_1099	-		Myeloproliferative disorder(178;0.204)	269					Q5JUE4|Q8IV73	Frame_Shift_Ins	INS	ENST00000372189.3	37	c.855_856insC	CCDS48047.1																																																																																				0.540	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		8	320						8	320	---	---	---	---
PRKCQ	5588	broad.mit.edu	37	10	6506351	6506352	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:6506351_6506352insA	ENST00000263125.5	-	13	1467_1468	c.1368_1369insT	c.(1366-1371)tttgtgfs	p.V457fs	PRKCQ_ENST00000539722.1_Frame_Shift_Ins_p.V332fs|PRKCQ_ENST00000397176.2_Frame_Shift_Ins_p.V457fs	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	457	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TACTCCATCACAAAAAAGAGGT	0.401																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(1366-1371)tttgatfs		protein kinase C, theta																																				SO:0001589	frameshift_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6506351_6506352insA	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1369dupT	10.37:g.6506357_6506357dupA	ENSP00000263125:p.Val457fs					PRKCQ_ENST00000539722.1_Frame_Shift_Ins_p.D332fs|PRKCQ_ENST00000397176.2_Frame_Shift_Ins_p.D457fs	p.D457fs	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			13	1467_1468	-			457			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Frame_Shift_Ins	INS	ENST00000263125.5	37	c.1368_1369insT	CCDS7079.1																																																																																				0.401	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		13	1167						13	1167	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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	267						7	267	---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:13325834_13325835insC	ENST00000263038.4	-	7	741_742	c.683_684insG	c.(682-684)ggafs	p.G228fs	PHYH_ENST00000396920.3_Frame_Shift_Ins_p.G211fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25	GRCh37	CI040643	PHYH	I		c.(631-633)ggtfs		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13325834_13325835insC		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.684dupG	10.37:g.13325840_13325840dupC	ENSP00000263038:p.Gly228fs					PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs	p.G211fs			O14832	PAHX_HUMAN			7	1036_1037	-		Ovarian(717;0.0448)	228					A8MTS8|B1ALH5	Frame_Shift_Ins	INS	ENST00000263038.4	37	c.632_633insG	CCDS7097.1																																																																																				0.465	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			13	786						13	786	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs	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		18	431						18	431	---	---	---	---
YME1L1	10730	broad.mit.edu	37	10	27437919	27437920	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:27437919_27437920insT	ENST00000326799.3	-	2	231_232	c.83_84insA	c.(82-84)aacfs	p.N28fs	YME1L1_ENST00000376016.3_Frame_Shift_Ins_p.N28fs|YME1L1_ENST00000477432.1_Frame_Shift_Ins_p.N28fs|YME1L1_ENST00000375972.3_Frame_Shift_Ins_p.N28fs	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	28					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAACAGAAGTGTTTTTTGGTGT	0.381																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(82-84)aacfs		YME1-like 1 ATPase																																				SO:0001589	frameshift_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27437919_27437920insT	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.84dupA	10.37:g.27437925_27437925dupT	ENSP00000318480:p.Asn28fs					YME1L1_ENST00000477432.1_Frame_Shift_Ins_p.N28fs|YME1L1_ENST00000376016.3_Frame_Shift_Ins_p.N28fs|YME1L1_ENST00000375972.3_Frame_Shift_Ins_p.N28fs	p.N28fs	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			2	231_232	-			28					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Frame_Shift_Ins	INS	ENST00000326799.3	37	c.83_84insA	CCDS7152.1																																																																																				0.381	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		8	724						8	724	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:31809832_31809833insG	ENST00000320985.10	+	7	1679_1680	c.1569_1570insG	c.(1570-1572)gggfs	p.G524fs	ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.G457fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.G525fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.G504fs|ZEB1_ENST00000446923.2_Frame_Shift_Ins_p.G508fs			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	524					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77	GRCh37	CD075582	ZEB1	D	rs35708848	c.(1519-1524)gaggggfs		zinc finger E-box binding homeobox 1																																				SO:0001589	frameshift_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809832_31809833insG	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1576dupG	10.37:g.31809839_31809839dupG	ENSP00000319248:p.Gly524fs					ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000559858.1_3'UTR	p.EG507fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	1912_1913	+		Prostate(175;0.0156)	523					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Frame_Shift_Ins	INS	ENST00000320985.10	37	c.1521_1522insG	CCDS7169.1																																																																																				0.371	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		19	259						19	259	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51820739	51820740	+	RNA	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:51820739_51820740insG	ENST00000456967.1	-	0	1397					NR_038275.1																						TTGCCAATCCTGGGGGGCTTCC	0.485																																						ENST00000456967.1																			0																																																			100421577							g.chr10:51820739_51820740insG																													10.37:g.51820745_51820745dupG								NR_038275.1						0	1397	-									RNA	INS	ENST00000456967.1	37																																																																																						0.485	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			7	299						7	299	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:75560463_75560464insC	ENST00000605216.1	+	24	5294_5295	c.5077_5078insC	c.(5077-5079)tccfs	p.S1693fs	ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.S1690fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.S1652fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.S1698fs|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.S1511fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1693							zinc ion binding (GO:0008270)										CTTCTCCCGCTCCCCCCCCTAC	0.604																																						ENST00000604729.1																			0											c.(5068-5070)cccfs		zinc finger, SWIM-type containing 8			,,	27,3721		0,27,1847					,,	4.9	1.0			133	23,7871		0,23,3924	no	frameshift,frameshift,frameshift	KIAA0913	NM_015037.3,NM_001242488.1,NM_001242487.1	,,	0,50,5771	A1A1,A1R,RR		0.2914,0.7204,0.4295	,,	,,		50,11592				SO:0001589	frameshift_variant	23053							g.chr10:75560463_75560464insC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5085dupC	10.37:g.75560471_75560471dupC	ENSP00000474748:p.Ser1693fs					ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs	p.P1690fs							24	5365_5366	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	ENST00000605216.1	37	c.5068_5069insC																																																																																					0.604	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		13	146						13	146	---	---	---	---
ZFYVE27	118813	broad.mit.edu	37	10	99504492	99504499	+	Frame_Shift_Del	DEL	GGTACTCA	GGTACTCA	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:99504492_99504499delGGTACTCA	ENST00000393677.4	+	4	479_486	c.275_282delGGTACTCA	c.(274-282)tggtactcafs	p.WYS92fs	ZFYVE27_ENST00000337540.7_Frame_Shift_Del_p.WYS60fs|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000453958.2_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000370610.3_5'UTR|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000356257.4_Frame_Shift_Del_p.WYS92fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	92					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GCAGGTGCATGGTACTCAGTAGGTGCCC	0.577																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(274-282)tfs		zinc finger, FYVE domain containing 27																																				SO:0001589	frameshift_variant	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99504492_99504499delGGTACTCA	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.275_282delGGTACTCA	10.37:g.99504492_99504499delGGTACTCA	ENSP00000377282:p.Trp92fs					ZFYVE27_ENST00000453958.2_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000370610.3_5'UTR|ZFYVE27_ENST00000356257.4_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000337540.7_Frame_Shift_Del_p.WYS60fs	p.WYS92fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	4	479_486	+		Colorectal(252;0.0846)	92					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Frame_Shift_Del	DEL	ENST00000393677.4	37	c.275_282delGGTACTCA	CCDS31263.1																																																																																				0.577	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		8	134						8	134	---	---	---	---
ZFYVE27	118813	broad.mit.edu	37	10	99510176	99510177	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:99510176_99510177insG	ENST00000393677.4	+	7	957_958	c.753_754insG	c.(754-756)gggfs	p.G252fs	ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.G220fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.G134fs|ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.G252fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.G252fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.G154fs|ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.G166fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.G252fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	252					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CACCAGATGTTGGGGGGAAGGA	0.599																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(751-756)gtggggfs		zinc finger, FYVE domain containing 27																																				SO:0001589	frameshift_variant	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99510176_99510177insG	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.759dupG	10.37:g.99510182_99510182dupG	ENSP00000377282:p.Gly252fs					ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.VG133fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.VG153fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.VG165fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.VG219fs	p.VG251fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	7	957_958	+		Colorectal(252;0.0846)	251					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Frame_Shift_Ins	INS	ENST00000393677.4	37	c.753_754insG	CCDS31263.1																																																																																				0.599	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		26	1220						26	1220	---	---	---	---
HPS1	3257	broad.mit.edu	37	10	100189562	100189563	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:100189562_100189563insC	ENST00000325103.6	-	9	1085_1086	c.852_853insG	c.(850-855)gggagcfs	p.S285fs	HPS1_ENST00000361490.4_Frame_Shift_Ins_p.S285fs|HPS1_ENST00000338546.5_Frame_Shift_Ins_p.S285fs|MIR4685_ENST00000578185.1_RNA|HPS1_ENST00000467246.1_Intron	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	285					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TCTGCAGAGCTCCCCCCAGTTG	0.688									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(850-855)gggctcfs		Hermansky-Pudlak syndrome 1																																				SO:0001589	frameshift_variant	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100189562_100189563insC	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.853dupG	10.37:g.100189568_100189568dupC	ENSP00000326649:p.Ser285fs					HPS1_ENST00000338546.5_Frame_Shift_Ins_p.L285fs|HPS1_ENST00000361490.4_Frame_Shift_Ins_p.L285fs|HPS1_ENST00000467246.1_Intron	p.L285fs	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	9	1085_1086	-		Colorectal(252;0.234)	285					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Frame_Shift_Ins	INS	ENST00000325103.6	37	c.852_853insG	CCDS7475.1																																																																																				0.688	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		10	595						10	595	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)cccgaafs	p.E317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.47																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(946-951)ccaagafs		carboxypeptidase N, polypeptide 1																																				SO:0001589	frameshift_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816832_101816833insG	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.949dupC	10.37:g.101816838_101816838dupG	ENSP00000359446:p.Glu317fs						p.R317fs	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1199_1200	-		Colorectal(252;0.234)	317			Catalytic.		B1AP59	Frame_Shift_Ins	INS	ENST00000370418.3	37	c.948_949insC	CCDS7486.1																																																																																				0.470	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		17	903						17	903	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G	rs372919677		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		10	817						10	817	---	---	---	---
NPM3	10360	broad.mit.edu	37	10	103541502	103541503	+	Frame_Shift_Ins	INS	-	-	C	rs201274360		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:103541502_103541503insC	ENST00000370110.5	-	5	549_550	c.527_528insG	c.(526-528)ggcfs	p.G176fs	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	176					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GCTAGGGCCTGCCCCCCTGCTT	0.564											OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370110.5																			0				large_intestine(3)|lung(1)|skin(1)	5						c.(526-528)gagfs		nucleophosmin/nucleoplasmin 3																																				SO:0001589	frameshift_variant	10360						nucleic acid binding	g.chr10:103541502_103541503insC	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.528dupG	10.37:g.103541508_103541508dupC	ENSP00000359128:p.Gly176fs		OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1374	NPM3_ENST00000474993.1_5'UTR	p.E176fs	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	5	549_550	-		Colorectal(252;0.122)	176					Q9UNY6	Frame_Shift_Ins	INS	ENST00000370110.5	37	c.527_528insG	CCDS7519.1																																																																																				0.564	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993		18	1617						18	1617	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103901076	103901077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:103901076_103901077insC	ENST00000278070.2	+	5	2850_2851	c.2811_2812insC	c.(2812-2814)cccfs	p.P938fs	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.P938fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	938	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATCCTTGCCTGCCCCCCCCACC	0.604																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2809-2814)ctccccfs		peroxisome proliferator-activated receptor gamma, coactivator-related 1																																				SO:0001589	frameshift_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901076_103901077insC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2819dupC	10.37:g.103901084_103901084dupC	ENSP00000278070:p.Pro938fs					PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.LP937fs	p.LP937fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2850_2851	+		Colorectal(252;0.122)	937			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Frame_Shift_Ins	INS	ENST00000278070.2	37	c.2811_2812insC	CCDS7529.1																																																																																				0.604	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		21	105						21	105	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103908247	103908248	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:103908247_103908248insC	ENST00000278070.2	+	10	4558_4559	c.4519_4520insC	c.(4519-4521)tccfs	p.S1507fs	PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.S474fs|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.S1243fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1507	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ACGATCCCCATCCCCCCGCCGG	0.554																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4519-4521)cccfs		peroxisome proliferator-activated receptor gamma, coactivator-related 1																																				SO:0001589	frameshift_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908247_103908248insC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4525dupC	10.37:g.103908253_103908253dupC	ENSP00000278070:p.Ser1507fs					PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.P474fs|PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.P1243fs	p.P1507fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	10	4558_4559	+		Colorectal(252;0.122)	1507			Arg-rich.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Frame_Shift_Ins	INS	ENST00000278070.2	37	c.4519_4520insC	CCDS7529.1																																																																																				0.554	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		9	722						9	722	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104164414	104164415	+	Frame_Shift_Ins	INS	-	-	G	rs375125392		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:104164414_104164415insG	ENST00000020673.5	-	15	3151_3152	c.2625_2626insC	c.(2623-2628)cccttcfs	p.F876fs	PSD_ENST00000406432.1_Frame_Shift_Ins_p.F876fs	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	876					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)			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)		GCAGCTGGGAAGGGGGGCGCAG	0.609																																						ENST00000020673.5																			0				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.(2623-2628)cctcccfs		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.chr10:104164414_104164415insG	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.2626dupC	10.37:g.104164420_104164420dupG	ENSP00000020673:p.Phe876fs					PSD_ENST00000406432.1_Frame_Shift_Ins_p.P876fs	p.P876fs	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)	15	3151_3152	-			876					B1AKX7|D3DR87|Q15673|Q8IVG0	Frame_Shift_Ins	INS	ENST00000020673.5	37	c.2625_2626insC	CCDS31272.1																																																																																				0.609	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			7	555						7	555	---	---	---	---
ABLIM1	3983	broad.mit.edu	37	10	116207654	116207655	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:116207654_116207655insG	ENST00000277895.5	-	15	1816_1817	c.1719_1720insC	c.(1717-1722)ccctcafs	p.S574fs	ABLIM1_ENST00000369252.4_Frame_Shift_Ins_p.S514fs|ABLIM1_ENST00000369253.2_Frame_Shift_Ins_p.S197fs|ABLIM1_ENST00000392952.3_Frame_Shift_Ins_p.S251fs|ABLIM1_ENST00000533213.2_Frame_Shift_Ins_p.S514fs|ABLIM1_ENST00000369266.3_Frame_Shift_Ins_p.S251fs	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	574					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ACAGCAAATGAGGGGGGACCAG	0.49																																						ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(1537-1542)cccattfs		actin binding LIM protein 1																																				SO:0001589	frameshift_variant	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116207654_116207655insG	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1720dupC	10.37:g.116207660_116207660dupG	ENSP00000277895:p.Ser574fs					ABLIM1_ENST00000369253.2_Frame_Shift_Ins_p.I197fs|ABLIM1_ENST00000277895.5_Frame_Shift_Ins_p.I574fs|ABLIM1_ENST00000392952.3_Frame_Shift_Ins_p.I251fs|ABLIM1_ENST00000369266.3_Frame_Shift_Ins_p.I251fs|ABLIM1_ENST00000533213.2_Frame_Shift_Ins_p.I514fs	p.I514fs	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	15	1840_1841	-		Colorectal(252;0.0373)|Breast(234;0.231)	574					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Frame_Shift_Ins	INS	ENST00000277895.5	37	c.1539_1540insC	CCDS7590.1																																																																																				0.490	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			9	422						9	422	---	---	---	---
BNIP3	664	broad.mit.edu	37	10	133784369	133784370	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:133784369_133784370insG	ENST00000368636.4	-	4	511_512	c.387_388insC	c.(385-390)cccaag>cccCaag	p.K130fs	BNIP3_ENST00000540159.1_Splice_Site_p.K130fs	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	130					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CACACTCACTTGGGGGGAATAT	0.475																																						ENST00000540159.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7						c.e4+1		BCL2/adenovirus E1B 19kDa interacting protein 3																																				SO:0001630	splice_region_variant	664				cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity	g.chr10:133784369_133784370insG	U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"""BCL2/adenovirus E1B 19kD-interacting protein 3"""			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.389+1->C	10.37:g.133784375_133784375dupG						BNIP3_ENST00000368636.4_Splice_Site_p.G130_splice	p.G130_splice			Q12983	BNIP3_HUMAN		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	4	503_504	-		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)	130					O14620|Q96GP0	Splice_Site	INS	ENST00000368636.4	37	c.389_splice	CCDS7663.1																																																																																				0.475	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051039.1		Frame_Shift_Ins	8	308						8	308	---	---	---	---
CARS	833	broad.mit.edu	37	11	3023250	3023251	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:3023250_3023251insG	ENST00000397111.5	-	21	2306_2307	c.2061_2062insC	c.(2059-2064)cccagtfs	p.S688fs	CARS_ENST00000380525.4_Frame_Shift_Ins_p.S771fs|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Frame_Shift_Ins_p.S688fs|CARS_ENST00000397114.3_Frame_Shift_Ins_p.S678fs|CARS_ENST00000401769.3_Frame_Shift_Ins_p.S701fs			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_ENST00000401769.3_Frame_Shift_Ins_p.*701fs|CARS_ENST00000278224.9_Frame_Shift_Ins_p.*688fs|CARS_ENST00000380525.4_Frame_Shift_Ins_p.*771fs|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000397111.5_Frame_Shift_Ins_p.*688fs	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		9	1015						9	1015	---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4409704	4409705	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:4409704_4409705insT	ENST00000254436.7	-	4	672_673	c.560_561insA	c.(559-561)aacfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Ins_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)		CAACCAGGAAGTTTTTTTGCTG	0.485																																						ENST00000254436.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(559-561)attfs		tripartite motif containing 21																																				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.chr11:4409704_4409705insT	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.561dupA	11.37:g.4409711_4409711dupT	ENSP00000254436:p.Asn187fs					TRIM21_ENST00000543625.1_Frame_Shift_Ins_p.I187fs	p.I187fs	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_673	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	187					Q5XPV5|Q96RF8	Frame_Shift_Ins	INS	ENST00000254436.7	37	c.560_561insA	CCDS44525.1																																																																																				0.485	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		10	1117						10	1117	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)tccfs	p.S147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.51																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(439-441)cccfs		olfactory receptor, family 52, subfamily B, member 6																																				SO:0001589	frameshift_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602545_5602546insC	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.445dupC	11.37:g.5602551_5602551dupC	ENSP00000341581:p.Ser147fs					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.P147fs	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	439_440	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	147					Q6IFI7	Frame_Shift_Ins	INS	ENST00000345043.2	37	c.439_440insC	CCDS41611.1																																																																																				0.510	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		7	776						7	776	---	---	---	---
OR56B1	387748	broad.mit.edu	37	11	5758618	5758619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		10	1867						10	1867	---	---	---	---
OR56B4	196335	broad.mit.edu	37	11	6129868	6129869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:6129868_6129869insC	ENST00000316529.3	+	1	955_956	c.860_861insC	c.(859-864)atccccfs	p.IP287fs	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACAATGTCATCCCCCCTGCAC	0.51																																						ENST00000316529.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(859-861)accfs		olfactory receptor, family 56, subfamily B, member 4																																				SO:0001589	frameshift_variant	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129868_6129869insC	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.866dupC	11.37:g.6129874_6129874dupC	ENSP00000321196:p.Ile287fs					RP11-290F24.3_ENST00000529961.1_RNA	p.T287fs	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	955_956	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	287					Q6IFD7	Frame_Shift_Ins	INS	ENST00000316529.3	37	c.860_861insC	CCDS31406.1																																																																																				0.510	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		14	679						14	679	---	---	---	---
C11orf42	160298	broad.mit.edu	37	11	6226858	6226859	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:6226858_6226859insC	ENST00000316375.2	+	1	63_64	c.13_14insC	c.(13-15)accfs	p.T5fs	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	5										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGGTGGGTACCCCCAACCTG	0.584																																						ENST00000316375.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15						c.(13-15)cccfs		chromosome 11 open reading frame 42																																				SO:0001589	frameshift_variant	160298							g.chr11:6226858_6226859insC	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.18dupC	11.37:g.6226863_6226863dupC	ENSP00000321021:p.Thr5fs						p.P5fs	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	63_64	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	5						Frame_Shift_Ins	INS	ENST00000316375.2	37	c.13_14insC	CCDS7759.1																																																																																				0.584	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		15	629						15	629	---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6244063	6244064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:6244063_6244064insC	ENST00000449352.2	-	5	1263_1264	c.1000_1001insG	c.(1000-1002)gtcfs	p.V334fs	FAM160A2_ENST00000265978.4_Frame_Shift_Ins_p.V334fs|FAM160A2_ENST00000524416.1_Frame_Shift_Ins_p.V334fs			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	334					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGACCCATGACAGGCACCAGG	0.545																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1000-1002)catfs		family with sequence similarity 160, member A2																																				SO:0001589	frameshift_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6244063_6244064insC		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1001dupG	11.37:g.6244064_6244064dupC	ENSP00000416918:p.Val334fs					FAM160A2_ENST00000524416.1_Frame_Shift_Ins_p.H334fs|FAM160A2_ENST00000449352.2_Frame_Shift_Ins_p.H334fs	p.H334fs	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			5	1358_1359	-			334					Q9C0A4|Q9H0N3|Q9H624	Frame_Shift_Ins	INS	ENST00000449352.2	37	c.1000_1001insG	CCDS44530.1																																																																																				0.545	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		17	752						17	752	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G	rs528648883	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)ccafs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(2191-2193)cctfs		dachsous cadherin-related 1																																				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655045_6655046insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2193dupC	11.37:g.6655051_6655051dupG	ENSP00000299441:p.Pro731fs					RP11-732A19.6_ENST00000526633.1_RNA	p.P731fs	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2603_2604	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	731			Cadherin 7.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.2192_2193insC	CCDS7771.1																																																																																				0.604	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		7	306						7	306	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)cccagcfs	p.S788fs	EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.S750fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.S788fs|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.S788fs|SNORD97_ENST00000459187.1_RNA	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_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000339995.5_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		7	105						7	105	---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17191096	17191097	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:17191096_17191097insT	ENST00000265970.7	-	1	191_192	c.192_193insA	c.(190-195)aaagcafs	p.A65fs	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	65	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TAAACCTGTGCTTTTTTTCTGG	0.401																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(190-195)aacacafs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17191096_17191097insT	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.193dupA	11.37:g.17191103_17191103dupT	ENSP00000265970:p.Ala65fs					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	p.NT64fs	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			1	191_192	-			64			Interaction with clathrin.		B0LPH2|B4E2G4|Q14CQ9	Frame_Shift_Ins	INS	ENST00000265970.7	37	c.192_193insA	CCDS7824.1																																																																																				0.401	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		8	1197						8	1197	---	---	---	---
HPS5	11234	broad.mit.edu	37	11	18303689	18303690	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:18303689_18303690insG	ENST00000349215.3	-	22	3413_3414	c.3136_3137insC	c.(3136-3138)cagfs	p.Q1046fs	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Frame_Shift_Ins_p.Q932fs|HPS5_ENST00000396253.3_Frame_Shift_Ins_p.Q932fs|HPS5_ENST00000537258.1_Frame_Shift_Ins_p.Q153fs	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_ENST00000537258.1_Frame_Shift_Ins_p.G153fs|HPS5_ENST00000349215.3_Frame_Shift_Ins_p.G1046fs|HPS5_ENST00000438420.2_Frame_Shift_Ins_p.G932fs|HPS5_ENST00000352460.3_5'UTR	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		8	182						8	182	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20067148	20067149	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:20067148_20067149insA	ENST00000396087.3	+	15	4002_4003	c.3903_3904insA	c.(3904-3906)agtfs	p.S1302fs	NAV2_ENST00000349880.4_Frame_Shift_Ins_p.S1279fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.S1233fs|NAV2_ENST00000396085.1_Frame_Shift_Ins_p.S1279fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.S1231fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.S1215fs|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Frame_Shift_Ins_p.S365fs|NAV2_ENST00000533917.1_Frame_Shift_Ins_p.S365fs	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1302					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGCCTGTGTCCAGTCCGGCTCA	0.545																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(3832-3837)tcgtccfs		neuron navigator 2																																				SO:0001589	frameshift_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20067148_20067149insA	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3904dupA	11.37:g.20067149_20067149dupA	ENSP00000379396:p.Ser1302fs					NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.S1215fs|NAV2_ENST00000311043.8_Frame_Shift_Ins_p.S365fs|NAV2_ENST00000396087.3_Frame_Shift_Ins_p.S1302fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.S1233fs|NAV2_ENST00000533917.1_Frame_Shift_Ins_p.S365fs|NAV2_ENST00000349880.4_Frame_Shift_Ins_p.S1279fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.S1231fs	p.S1279fs	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			14	4195_4196	+			1302					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Frame_Shift_Ins	INS	ENST00000396087.3	37	c.3834_3835insA	CCDS58126.1																																																																																				0.545	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		11	176						11	176	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30032939	30032940	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:30032939_30032940insC	ENST00000328224.6	-	2	2519_2520	c.1286_1287insG	c.(1285-1287)ggtfs	p.G429fs	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	429					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.G429fs*53(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GACCATTGCCACCCCCCTGTTG	0.5																																						ENST00000328224.6																			1	Deletion - Frameshift(1)	p.G429fs*53(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1285-1287)gggfs		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001589	frameshift_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032939_30032940insC	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1287dupG	11.37:g.30032945_30032945dupC	ENSP00000328511:p.Gly429fs						p.G429fs	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2519_2520	-			429						Frame_Shift_Ins	INS	ENST00000328224.6	37	c.1286_1287insG	CCDS41629.1																																																																																				0.500	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		10	868						10	868	---	---	---	---
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G	rs200015827		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:31812316_31812317insG	ENST00000379132.3	-	11	1404_1405	c.1124_1125insC	c.(1123-1125)ccafs	p.P375fs	PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000419022.1_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs			P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability; dbSNP:rs200015827). {ECO:0000269|PubMed:11309364}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	GRCh37	CM011452	PAX6	M		c.(1165-1167)ccafs		paired box 6																																				SO:0001589	frameshift_variant	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31812316_31812317insG	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1125dupC	11.37:g.31812323_31812323dupG	ENSP00000368427:p.Pro375fs					PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs	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		9	101						9	101	---	---	---	---
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C	rs564123868		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)gaafs	p.E202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.E219fs	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.45																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(604-606)aacfs		APAF1 interacting protein																																				SO:0001589	frameshift_variant	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34904908_34904909insC	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.605dupG	11.37:g.34904914_34904914dupC	ENSP00000379133:p.Glu202fs					APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs	p.N202fs	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		6	818_819	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	202						Frame_Shift_Ins	INS	ENST00000395787.3	37	c.604_605insG	CCDS7895.1																																																																																				0.450	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		7	620						7	620	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.52																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gacfs		peptidase domain containing associated with muscle regeneration 1																																				SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513669_35513670insC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.303dupG	11.37:g.35513676_35513676dupC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs	p.D101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747_748	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Ins	INS	ENST00000378880.2	37	c.302_303insG	CCDS31460.1																																																																																				0.520	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		52	798						52	798	---	---	---	---
ACCSL	390110	broad.mit.edu	37	11	44080010	44080011	+	Splice_Site	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:44080010_44080011insT	ENST00000378832.1	+	12	1526		c.e12+1			NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like						biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTTGAAAAAGGTGTGTTCTGGG	0.535																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.e12+1		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like																																				SO:0001630	splice_region_variant	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44080010_44080011insT		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1470+1->T	11.37:g.44080011_44080011dupT								NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			12	1526	+									Splice_Site	INS	ENST00000378832.1	37		CCDS41636.1																																																																																				0.535	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854	Intron	17	283						17	283	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46784654	46784655	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:46784654_46784655insA	ENST00000529230.1	-	30	3808_3809	c.3762_3763insT	c.(3760-3765)tttgacfs	p.D1255fs	CKAP5_ENST00000415402.1_Frame_Shift_Ins_p.D1255fs|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000354558.3_Frame_Shift_Ins_p.D1255fs|CKAP5_ENST00000312055.5_Frame_Shift_Ins_p.D1255fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1255					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTATTGGTGTCAAAAAACCTCA	0.361																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3760-3765)ttacacfs		cytoskeleton associated protein 5																																				SO:0001589	frameshift_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46784654_46784655insA		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3763dupT	11.37:g.46784660_46784660dupA	ENSP00000432768:p.Asp1255fs					CKAP5_ENST00000354558.3_Frame_Shift_Ins_p.LH1254fs|CKAP5_ENST00000312055.5_Frame_Shift_Ins_p.LH1254fs|CKAP5_ENST00000415402.1_Frame_Shift_Ins_p.LH1254fs	p.LH1254fs			Q14008	CKAP5_HUMAN			30	3808_3809	-			1254					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Frame_Shift_Ins	INS	ENST00000529230.1	37	c.3762_3763insT	CCDS31477.1																																																																																				0.361	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		7	817						7	817	---	---	---	---
C11orf49	79096	broad.mit.edu	37	11	47074000	47074001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:47074000_47074001insC	ENST00000278460.7	+	3	270_271	c.211_212insC	c.(211-213)accfs	p.T71fs	C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.T71fs|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.T71fs|C11orf49_ENST00000395460.2_Frame_Shift_Ins_p.T71fs|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000536126.1_5'UTR	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	71						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAAT	0.441																																						ENST00000395460.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						c.(211-213)cccfs		chromosome 11 open reading frame 49			,,,	1,4263		0,1,2131					,,,	6.0	1.0			144	0,8254		0,0,4127	no	frameshift,frameshift,frameshift,frameshift	C11orf49	NM_024113.3,NM_001003678.1,NM_001003677.1,NM_001003676.1	,,,	0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080	,,,	,,,		1,12517				SO:0001589	frameshift_variant	79096							g.chr11:47074000_47074001insC	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.217dupC	11.37:g.47074006_47074006dupC	ENSP00000278460:p.Thr71fs					C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000527268.1_3'UTR	p.P71fs	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN			3	249_250	+			71					D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Frame_Shift_Ins	INS	ENST00000278460.7	37	c.211_212insC	CCDS7925.1																																																																																				0.441	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1	NM_024113		7	289						7	289	---	---	---	---
KBTBD4	55709	broad.mit.edu	37	11	47594882	47594883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:47594882_47594883insC	ENST00000526005.1	-	4	1309_1310	c.1156_1157insG	c.(1156-1158)gagfs	p.E386fs	KBTBD4_ENST00000533290.1_Frame_Shift_Ins_p.E411fs|KBTBD4_ENST00000430070.2_Frame_Shift_Ins_p.E402fs|KBTBD4_ENST00000395288.2_Frame_Shift_Ins_p.E386fs|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000527079.2_3'UTR			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	386								p.E386fs*4(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ATCATTCTCCTCCCCCCCTAGT	0.515																																						ENST00000533290.1																			2	Insertion - Frameshift(2)	p.E386fs*4(2)	haematopoietic_and_lymphoid_tissue(2)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(1231-1233)ggafs		kelch repeat and BTB (POZ) domain containing 4																																				SO:0001589	frameshift_variant	55709							g.chr11:47594882_47594883insC	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1157dupG	11.37:g.47594889_47594889dupC	ENSP00000433340:p.Glu386fs					KBTBD4_ENST00000430070.2_Frame_Shift_Ins_p.G402fs|KBTBD4_ENST00000526005.1_Frame_Shift_Ins_p.G386fs|KBTBD4_ENST00000395288.2_Frame_Shift_Ins_p.G386fs|PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_Intron	p.G411fs			Q9NVX7	KBTB4_HUMAN			3	1945_1946	-			386					D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Ins	INS	ENST00000526005.1	37	c.1231_1232insG	CCDS7940.1																																																																																				0.515	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		44	586						44	586	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		11	1097						11	1097	---	---	---	---
OR5M1	390168	broad.mit.edu	37	11	56380547	56380550	+	Frame_Shift_Del	DEL	CAGA	CAGA	-	rs71931749|rs72003051	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:56380547_56380550delCAGA	ENST00000526538.1	-	1	428_431	c.429_432delTCTG	c.(427-432)tgtctgfs	p.CL143fs		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	143						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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GGATAGTGACCAGACAGACACAGA	0.436														634	0.126597	0.031	0.098	5008	,	,		22572	0.1617		0.2008	False		,,,				2504	0.1636					ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(427-432)tgfs		olfactory receptor, family 5, subfamily M, member 1				236,3532		12,212,1660						3.7	0.0		dbSNP_130	118	1705,6265		205,1295,2485	no	frameshift	OR5M1	NM_001004740.1		217,1507,4145	A1A1,A1R,RR		21.3927,6.2633,16.536				1941,9797				SO:0001589	frameshift_variant	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380547_56380550delCAGA	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.429_432delTCTG	11.37:g.56380551_56380554delCAGA	ENSP00000435416:p.Cys143fs						p.CL143fs	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	428_431	-			143					Q6IF60|Q96RB6	Frame_Shift_Del	DEL	ENST00000526538.1	37	c.429_432delTCTG	CCDS53631.1																																																																																				0.436	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		25	290						25	290	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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_ENST00000395124.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.N233fs|SLC43A3_ENST00000528098.1_5'UTR	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_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000528098.1_5'UTR	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		13	324						13	324	---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57464257	57464258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		12	284						12	284	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	p.NP128fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			4	396_397	+			128			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Ins	INS	ENST00000278422.4	37	c.384_385insC	CCDS7967.1																																																																																				0.421	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		11	569						11	569	---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271497	59271498	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:59271497_59271498insG	ENST00000313253.1	+	1	449_450	c.449_450insG	c.(448-453)atggggfs	p.MG150fs		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	150						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(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTCTTGGATGGGGGGCTTTG	0.55																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(448-450)aggfs		olfactory receptor, family 4, subfamily D, member 11																																				SO:0001589	frameshift_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271497_59271498insG	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.455dupG	11.37:g.59271503_59271503dupG	ENSP00000320077:p.Met150fs						p.R150fs	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	449_450	+			150						Frame_Shift_Ins	INS	ENST00000313253.1	37	c.449_450insG	CCDS31563.1																																																																																				0.550	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		8	616						8	616	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e5-2	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa				2,4260		0,2,2129						4.8	1.0			84	5,8245		0,5,4120	no	splice-3	DDB1	NM_001923.3		0,7,6249	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12505				SO:0001630	splice_region_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61094367_61094368insG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.550-2->C	11.37:g.61094374_61094374dupG						DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron		NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			5	947	-								A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Splice_Site	INS	ENST00000301764.7	37		CCDS31576.1																																																																																				0.515	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	Intron	15	441						15	441	---	---	---	---
RASGRP2	10235	broad.mit.edu	37	11	64507637	64507638	+	Splice_Site	INS	-	-	G	rs376998176		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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_ENST00000354024.3_Splice_Site|RASGRP2_ENST00000377497.3_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	8	90						8	90	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	651					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2005-2010)gcccccfs		dipeptidyl-peptidase 3																																				SO:0001589	frameshift_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272154_66272155insC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1956dupC	11.37:g.66272160_66272160dupC	ENSP00000353701:p.Pro651fs					DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs	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			10	278						10	278	---	---	---	---
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		9	122						9	122	---	---	---	---
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000393505.4_Splice_Site|ARRB1_ENST00000360025.3_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.55																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.e9-2		arrestin, beta 1																																				SO:0001630	splice_region_variant	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74988494_74988495insG	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.619-2->C	11.37:g.74988500_74988500dupG						ARRB1_ENST00000393505.4_Splice_Site|ARRB1_ENST00000360025.3_Splice_Site		NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN			9	716	-								B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Splice_Site	INS	ENST00000420843.2	37		CCDS44684.1																																																																																				0.550	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041	Intron	8	753						8	753	---	---	---	---
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cctfs	p.P471fs	RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1411-1413)cccfs		radixin																																				SO:0001589	frameshift_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110104136_110104137insG	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1413dupC	11.37:g.110104143_110104143dupG	ENSP00000342830:p.Pro471fs					RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs	p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	13	1731_1732	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	471			Glu-rich.|Poly-Pro.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Frame_Shift_Ins	INS	ENST00000343115.4	37	c.1412_1413insC	CCDS8343.1																																																																																				0.431	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		19	556						19	556	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		13	483						13	483	---	---	---	---
TTC12	54970	broad.mit.edu	37	11	113210159	113210160	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:113210159_113210160insG	ENST00000529221.1	+	10	894_895	c.789_790insG	c.(790-792)gggfs	p.G264fs	TTC12_ENST00000314756.3_Frame_Shift_Ins_p.G264fs|TTC12_ENST00000393020.1_Frame_Shift_Ins_p.G264fs|TTC12_ENST00000483239.2_Frame_Shift_Ins_p.G270fs	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	264										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGTTCTATGCTGGGGGGATTGA	0.5																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(787-792)gcggggfs		tetratricopeptide repeat domain 12																																				SO:0001589	frameshift_variant	54970						binding	g.chr11:113210159_113210160insG	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.795dupG	11.37:g.113210165_113210165dupG	ENSP00000433757:p.Gly264fs					TTC12_ENST00000314756.3_Frame_Shift_Ins_p.AG263fs|TTC12_ENST00000483239.2_Frame_Shift_Ins_p.AG269fs|TTC12_ENST00000529221.1_Frame_Shift_Ins_p.AG263fs	p.AG263fs			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	10	1194_1195	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	263					Q8N5H9|Q9NWY3	Frame_Shift_Ins	INS	ENST00000529221.1	37	c.789_790insG	CCDS8360.2																																																																																				0.500	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		8	349						8	349	---	---	---	---
CLDN25	644672	broad.mit.edu	37	11	113650550	113650551	+	Frame_Shift_Ins	INS	-	-	G	rs367566026		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:113650550_113650551insG	ENST00000453129.2	+	1	82_83	c.33_34insG	c.(34-36)gggfs	p.G12fs		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.L14fs*24(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						AAGTCCAGCTCGGGGGGCTACT	0.55																																						ENST00000453129.2																			1	Insertion - Frameshift(1)	p.L14fs*24(1)	ovary(1)	large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						c.(31-36)ctggggfs		claudin 25																																				SO:0001589	frameshift_variant	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650550_113650551insG		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.39dupG	11.37:g.113650556_113650556dupG	ENSP00000396304:p.Gly12fs						p.LG11fs	NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN			1	82_83	+			11						Frame_Shift_Ins	INS	ENST00000453129.2	37	c.33_34insG	CCDS44736.1																																																																																				0.550	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		9	317						9	317	---	---	---	---
BACE1	23621	broad.mit.edu	37	11	117186257	117186258	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:117186257_117186258insG	ENST00000313005.6	-	1	714_715	c.254_255insC	c.(253-255)ccgfs	p.P85fs	BACE1_ENST00000428381.2_Frame_Shift_Ins_p.P85fs|BACE1_ENST00000528053.1_Frame_Shift_Ins_p.P85fs|BACE1_ENST00000513780.1_Frame_Shift_Ins_p.P85fs|BACE1_ENST00000445823.2_Frame_Shift_Ins_p.P85fs|BACE1_ENST00000514464.1_5'UTR|AP000892.4_ENST00000504906.1_RNA	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	85					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	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;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		TTACCGTCTGCGGGGGGCTGCC	0.658																																						ENST00000313005.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19						c.(253-255)ccafs		beta-site APP-cleaving enzyme 1																																				SO:0001589	frameshift_variant	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117186257_117186258insG	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.255dupC	11.37:g.117186263_117186263dupG	ENSP00000318585:p.Pro85fs					BACE1_ENST00000513780.1_Frame_Shift_Ins_p.P85fs|BACE1_ENST00000528053.1_Frame_Shift_Ins_p.P85fs|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000428381.2_Frame_Shift_Ins_p.P85fs|BACE1_ENST00000445823.2_Frame_Shift_Ins_p.P85fs	p.P85fs	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	1	714_715	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	85					A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Frame_Shift_Ins	INS	ENST00000313005.6	37	c.254_255insC	CCDS8383.1																																																																																				0.658	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			7	190						7	190	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118495753	118495754	+	Frame_Shift_Ins	INS	-	-	C	rs267602716		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:118495753_118495754insC	ENST00000361417.2	+	6	870_871	c.459_460insC	c.(460-462)cccfs	p.P154fs	PHLDB1_ENST00000356063.5_Frame_Shift_Ins_p.P154fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	154										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GAGCCCCTGGGCCCCCCTACAG	0.609																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(457-462)ggccccfs		pleckstrin homology-like domain, family B, member 1																																				SO:0001589	frameshift_variant	23187							g.chr11:118495753_118495754insC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.465dupC	11.37:g.118495759_118495759dupC	ENSP00000354498:p.Pro154fs					PHLDB1_ENST00000356063.5_Frame_Shift_Ins_p.GP153fs	p.GP153fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	6	870_871	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	153					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Frame_Shift_Ins	INS	ENST00000361417.2	37	c.459_460insC	CCDS8401.1																																																																																				0.609	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		8	554						8	554	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G	rs200755405		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:118629613_118629614insG	ENST00000526070.2	-	9	1225		c.e9-2		DDX6_ENST00000264018.4_Splice_Site|DDX6_ENST00000534980.1_Splice_Site	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.e9-2		DEAD (Asp-Glu-Ala-Asp) box helicase 6				28,3478		0,28,1725						5.8	1.0			104	55,7749		0,55,3847	no	splice-3	DDX6	NM_004397.4		0,83,5572	A1A1,A1R,RR		0.7048,0.7986,0.7339				83,11227				SO:0001630	splice_region_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118629613_118629614insG	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.865-2->C	11.37:g.118629621_118629621dupG						DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site		NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	9	1170	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)						Q5D048	Splice_Site	INS	ENST00000526070.2	37		CCDS44751.1																																																																																				0.426	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	Intron	13	95						13	95	---	---	---	---
ABCG4	64137	broad.mit.edu	37	11	119027095	119027096	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:119027095_119027096insG	ENST00000449422.2	+	7	931_932	c.743_744insG	c.(742-747)caggggfs	p.QG248fs	ABCG4_ENST00000531739.1_Frame_Shift_Ins_p.QG248fs|ABCG4_ENST00000307417.3_Frame_Shift_Ins_p.QG248fs	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	248	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCCCTGGCACAGGGGGGCCGTA	0.589																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(742-744)cggfs		ATP-binding cassette, sub-family G (WHITE), member 4																																				SO:0001589	frameshift_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119027095_119027096insG	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.749dupG	11.37:g.119027101_119027101dupG	ENSP00000406874:p.Gln248fs					ABCG4_ENST00000449422.2_Frame_Shift_Ins_p.R248fs|ABCG4_ENST00000531739.1_Frame_Shift_Ins_p.R248fs	p.R248fs	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	1107_1108	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	248			ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Frame_Shift_Ins	INS	ENST00000449422.2	37	c.743_744insG	CCDS8415.1																																																																																				0.589	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		7	417						7	417	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs						p.P23fs	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		9	1052						9	1052	---	---	---	---
VSIG2	23584	broad.mit.edu	37	11	124620739	124620740	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:124620739_124620740insG	ENST00000326621.5	-	3	397_398	c.297_298insC	c.(295-300)cccacafs	p.T100fs	VSIG2_ENST00000403470.1_Frame_Shift_Ins_p.T100fs	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	100	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACCCCCACTGTGGGGGGGTTCT	0.54																																						ENST00000403470.1																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(295-300)cccagtfs		V-set and immunoglobulin domain containing 2				5,4259		0,5,2127						4.1	1.0			80	5,8249		0,5,4122	no	frameshift	VSIG2	NM_014312.3		0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799				10,12508				SO:0001589	frameshift_variant	23584					integral to plasma membrane|membrane fraction		g.chr11:124620739_124620740insG	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.298dupC	11.37:g.124620746_124620746dupG	ENSP00000318684:p.Thr100fs					VSIG2_ENST00000326621.5_Frame_Shift_Ins_p.S100fs	p.S100fs			Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	3	352_353	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	100			Ig-like V-type.		O95791|Q9NX42	Frame_Shift_Ins	INS	ENST00000326621.5	37	c.297_298insC	CCDS8452.1																																																																																				0.540	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		11	161						11	161	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G	rs567657119		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)cagfs	p.Q147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.Q147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(439-441)gtafs		immunoglobulin superfamily, member 9B																																				SO:0001589	frameshift_variant	22997					integral to membrane|plasma membrane		g.chr11:133807826_133807827insG	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.440dupC	11.37:g.133807833_133807833dupG	ENSP00000317980:p.Gln147fs					IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs	p.V147fs			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	4	669_670	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	147			Ig-like 2.		G5EA26	Frame_Shift_Ins	INS	ENST00000321016.8	37	c.439_440insC																																																																																					0.574	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		10	78						10	78	---	---	---	---
RAD52	5893	broad.mit.edu	37	12	1036431	1036432	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:1036431_1036432insG	ENST00000358495.3	-	6	487		c.e6-2		RAD52_ENST00000539046.1_Splice_Site|RAD52_ENST00000545564.1_Splice_Site|RAD52_ENST00000536177.1_Splice_Site|RAD52_ENST00000430095.2_Splice_Site	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)						DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TGAACCATCCTGGGGGCAGAAA	0.53								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.e6-2	Homologous recombination	RAD52 homolog (S. cerevisiae)																																				SO:0001630	splice_region_variant	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1036431_1036432insG		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.349-2->C	12.37:g.1036436_1036436dupG						RAD52_ENST00000430095.2_Splice_Site|RAD52_ENST00000545564.1_Splice_Site|RAD52_ENST00000536177.1_Splice_Site|RAD52_ENST00000539046.1_Splice_Site		NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		6	487	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)							Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Splice_Site	INS	ENST00000358495.3	37		CCDS8507.2																																																																																				0.530	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424	Intron	7	2513						7	2513	---	---	---	---
FOXM1	2305	broad.mit.edu	37	12	2968087	2968088	+	Frame_Shift_Ins	INS	-	-	G	rs563190488		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:2968087_2968088insG	ENST00000359843.3	-	9	2076_2077	c.2008_2009insC	c.(2008-2010)cttfs	p.L670fs	ITFG2_ENST00000545509.1_Intron|Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000342628.2_Frame_Shift_Ins_p.L708fs|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.L655fs|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					FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.*655fs|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Frame_Shift_Ins_p.*670fs	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		9	228						9	228	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs62643632|rs62643631	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		12	405						12	405	---	---	---	---
CD4	920	broad.mit.edu	37	12	6923985	6923986	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:6923985_6923986insC	ENST00000011653.4	+	5	692_693	c.434_435insC	c.(433-438)agccccfs	p.SP145fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.SP90fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	145	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	ACCTTGGAGAGCCCCCCTGGTA	0.579																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(433-435)accfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6923985_6923986insC	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.440dupC	12.37:g.6923991_6923991dupC	ENSP00000011653:p.Ser145fs					CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.T90fs	p.T145fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			5	692_693	+		Myeloproliferative disorder(1001;0.0122)	145			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.434_435insC	CCDS8562.1																																																																																				0.579	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		7	1109						7	1109	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs					CD4_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		21	474						21	474	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045699	7045700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:7045699_7045700insC	ENST00000356654.4	+	5	1506_1507	c.1269_1270insC	c.(1270-1272)cccfs	p.P424fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.P424fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	424					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCTCCAATCAGCCCCCCAAGTA	0.614																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1267-1272)caccccfs		atrophin 1																																				SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045699_7045700insC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1275dupC	12.37:g.7045705_7045705dupC	ENSP00000349076:p.Pro424fs					ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs	p.HP423fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1506_1507	+			423					Q99495|Q99621|Q9UEK7	Frame_Shift_Ins	INS	ENST00000356654.4	37	c.1269_1270insC	CCDS31734.1																																																																																				0.614	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		7	225						7	225	---	---	---	---
RP11-273B20.3	0	broad.mit.edu	37	12	7338485	7338485	+	RNA	DEL	C	C	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:7338485delC	ENST00000545794.1	-	0	279				RP11-273B20.3_ENST00000543061.1_RNA																							ggatgtgcctccccctgcact	0.443																																						ENST00000545794.1																			0																																																			0							g.chr12:7338485delC																													12.37:g.7338485delC						RP11-273B20.3_ENST00000543061.1_RNA								0	279	-									RNA	DEL	ENST00000545794.1	37																																																																																						0.443	RP11-273B20.3-002	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000398610.1			2	4						2	4	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12274317	12274318	+	Frame_Shift_Ins	INS	-	-	G	rs145639537	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:12274317_12274318insG	ENST00000261349.4	-	23	4660_4661	c.4584_4585insC	c.(4582-4587)cccaccfs	p.T1529fs	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.T1484fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1529					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAGGGTGTGGTGGGGGGTGCAA	0.465																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4582-4587)ccccacfs		low density lipoprotein receptor-related protein 6																																				SO:0001589	frameshift_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12274317_12274318insG	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4585dupC	12.37:g.12274323_12274323dupG	ENSP00000261349:p.Thr1529fs					BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.H1484fs	p.H1529fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			23	4660_4661	-		Prostate(47;0.0865)	1529					Q17RZ2	Frame_Shift_Ins	INS	ENST00000261349.4	37	c.4584_4585insC	CCDS8647.1																																																																																				0.465	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			13	1280						13	1280	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCAATGCTGGGGGGGCTCT	0.589																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(97-102)ccgcatfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019043_14019044insG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs						p.H34fs	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			2	308_309	-			34					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			12	191						12	191	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14825856	14825857	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:14825856_14825857insC	ENST00000261170.3	-	9	1256_1257	c.1120_1121insG	c.(1120-1122)gatfs	p.D374fs	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	374					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACTGTCAACATCCCCCCAGTCA	0.47																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1120-1122)tgtfs		guanylate cyclase 2C (heat stable enterotoxin receptor)																																				SO:0001589	frameshift_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14825856_14825857insC		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1121dupG	12.37:g.14825862_14825862dupC	ENSP00000261170:p.Asp374fs					RP11-174G6.1_ENST00000501178.2_RNA	p.C374fs	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			9	1256_1257	-			374					B2RMY6	Frame_Shift_Ins	INS	ENST00000261170.3	37	c.1120_1121insG	CCDS8664.1																																																																																				0.470	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			10	308						10	308	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		13	203						13	203	---	---	---	---
KLHL42	57542	broad.mit.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1191)gtggggfs	p.VG396fs	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	396					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ATCTACATCGTGGGGGGGTGTC	0.594																																						ENST00000381271.2																			0											c.(1186-1188)gggfs		kelch-like family member 42																																				SO:0001589	frameshift_variant	57542							g.chr12:27950768_27950769insG	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1194dupG	12.37:g.27950775_27950775dupG	ENSP00000370671:p.Val396fs						p.G396fs	NM_020782.1	NP_065833.1					3	1498_1499	+								Q2VPK1|Q8N334	Frame_Shift_Ins	INS	ENST00000381271.2	37	c.1187_1188insG	CCDS31763.1																																																																																				0.594	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		52	550						52	550	---	---	---	---
PCED1B	91523	broad.mit.edu	37	12	47628997	47628998	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:47628997_47628998insG	ENST00000546455.1	+	4	882_883	c.151_152insG	c.(151-153)aggfs	p.R51fs	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Frame_Shift_Ins_p.R51fs			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	51							hydrolase activity (GO:0016787)	p.R51G(1)									GCTTAGAGCAAGGGGGGAGCTG	0.614																																						ENST00000546455.1																			1	Substitution - Missense(1)	p.R51G(1)	skin(1)								c.(151-153)gggfs		PC-esterase domain containing 1B																																				SO:0001589	frameshift_variant	91523							g.chr12:47628997_47628998insG	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.157dupG	12.37:g.47629003_47629003dupG	ENSP00000446688:p.Arg51fs					PCED1B_ENST00000432328.1_Frame_Shift_Ins_p.G51fs	p.G51fs							4	882_883	+								Q96B20	Frame_Shift_Ins	INS	ENST00000546455.1	37	c.151_152insG	CCDS8752.1																																																																																				0.614	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		7	402						7	402	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G	rs200088180		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)ccafs	p.P647fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATACCTCAGGTGGGGGGGACAT	0.634																																						ENST00000301067.7																			0											c.(1939-1941)cccfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49445525_49445526insG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1941dupC	12.37:g.49445532_49445532dupG	ENSP00000301067:p.Pro647fs						p.P647fs	NM_003482.3	NP_003473.3					10	1939_1940	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.1940_1941insC	CCDS44873.1																																																																																				0.634	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	170						7	170	---	---	---	---
LIMA1	51474	broad.mit.edu	37	12	50571521	50571522	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:50571521_50571522insG	ENST00000341247.4	-	11	1754_1755	c.1605_1606insC	c.(1603-1608)cccactfs	p.T536fs	LIMA1_ENST00000552909.1_Frame_Shift_Ins_p.T375fs|LIMA1_ENST00000552783.1_Frame_Shift_Ins_p.T377fs|LIMA1_ENST00000552491.1_Frame_Shift_Ins_p.T233fs|LIMA1_ENST00000394943.3_Frame_Shift_Ins_p.T537fs|LIMA1_ENST00000547825.1_Frame_Shift_Ins_p.T234fs|LIMA1_ENST00000552823.1_Frame_Shift_Ins_p.T376fs	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	536					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCAAGTTCAGTGGGGGGTGGCC	0.54																																						ENST00000547825.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(697-702)ccctgafs		LIM domain and actin binding 1																																				SO:0001589	frameshift_variant	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571521_50571522insG	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1606dupC	12.37:g.50571527_50571527dupG	ENSP00000340184:p.Thr536fs					LIMA1_ENST00000552909.1_Frame_Shift_Ins_p.*375fs|LIMA1_ENST00000552823.1_Frame_Shift_Ins_p.*376fs|LIMA1_ENST00000394943.3_Frame_Shift_Ins_p.*537fs|LIMA1_ENST00000552783.1_Frame_Shift_Ins_p.*377fs|LIMA1_ENST00000552491.1_Frame_Shift_Ins_p.*233fs|LIMA1_ENST00000341247.4_Frame_Shift_Ins_p.*536fs	p.*234fs	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN			5	1968_1969	-			536					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Frame_Shift_Ins	INS	ENST00000341247.4	37	c.699_700insC	CCDS8802.1																																																																																				0.540	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		7	302						7	302	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53001990	53001991	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:53001990_53001991insT	ENST00000305748.3	-	9	1646_1647	c.1612_1613insA	c.(1612-1614)accfs	p.T538fs	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTATCTCATGGTTTTTTTGGTG	0.535																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1612-1614)catfs		keratin 73																																				SO:0001589	frameshift_variant	319101					keratin filament	structural molecule activity	g.chr12:53001990_53001991insT	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1613dupA	12.37:g.53001997_53001997dupT	ENSP00000307014:p.Thr538fs					RP11-641A6.2_ENST00000551089.1_RNA	p.H538fs	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1646_1647	-			538			Tail.		Q32MB2	Frame_Shift_Ins	INS	ENST00000305748.3	37	c.1612_1613insA	CCDS8834.1																																																																																				0.535	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		8	402						8	402	---	---	---	---
EIF4B	1975	broad.mit.edu	37	12	53427591	53427592	+	Splice_Site	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:53427591_53427592insC	ENST00000262056.9	+	9	1307_1308	c.981_982insC	c.(982-984)ccc>Cccc	p.P328fs	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Splice_Site_p.P289fs|EIF4B_ENST00000420463.3_Splice_Site_p.P328fs	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	328	Arg-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TTAACTTAGGTCCCCCCCAAAG	0.426																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.e9-1		eukaryotic translation initiation factor 4B																																				SO:0001630	splice_region_variant	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53427591_53427592insC	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.980-1->C	12.37:g.53427598_53427598dupC						EIF4B_ENST00000420463.3_Splice_Site_p.GP327_splice|EIF4B_ENST00000416762.3_Splice_Site_p.GP288_splice|RP11-983P16.4_ENST00000552905.1_RNA	p.GP327_splice	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			9	1307_1308	+			327			Arg-rich.		Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Splice_Site	INS	ENST00000262056.9	37	c.979_splice	CCDS41788.1																																																																																				0.426	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417	Frame_Shift_Ins	9	105						9	105	---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:53715141_53715142insG	ENST00000209873.4	-	1	273_274	c.108_109insC	c.(106-111)cccgacfs	p.D37fs	AAAS_ENST00000394384.3_Frame_Shift_Ins_p.D37fs|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	37					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCGGAAGTCGGGGGGCGGGC	0.653																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(106-111)ccacttfs		achalasia, adrenocortical insufficiency, alacrimia																																				SO:0001589	frameshift_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715141_53715142insG	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.109dupC	12.37:g.53715147_53715147dupG	ENSP00000209873:p.Asp37fs					AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs	p.L37fs	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN			1	273_274	-			37					Q5JB47|Q9NWI6|Q9UG19	Frame_Shift_Ins	INS	ENST00000209873.4	37	c.108_109insC	CCDS8856.1																																																																																				0.653	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			11	384						11	384	---	---	---	---
SP1	6667	broad.mit.edu	37	12	53776725	53776727	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:53776725_53776727delACC	ENST00000327443.4	+	3	1092_1094	c.994_996delACC	c.(994-996)accdel	p.T333del	SP1_ENST00000426431.2_In_Frame_Del_p.T326del	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	333	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		AACTACTACTACCACCAGCAACA	0.502																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(973-975)del		Sp1 transcription factor																																				SO:0001651	inframe_deletion	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53776725_53776727delACC	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.994_996delACC	12.37:g.53776728_53776730delACC	ENSP00000329357:p.Thr333del					SP1_ENST00000327443.4_In_Frame_Del_p.T333del	p.T326del	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1033_1035	+			333			Ser/Thr-rich.|Transactivation domain B (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	In_Frame_Del	DEL	ENST00000327443.4	37	c.973_975delACC	CCDS8857.1																																																																																				0.502	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			9	174						9	174	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53876882	53876883	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:53876882_53876883insG	ENST00000267079.2	-	12	1830_1831	c.1605_1606insC	c.(1603-1608)ccctcafs	p.S536fs	MAP3K12_ENST00000547035.1_Frame_Shift_Ins_p.S569fs|MAP3K12_ENST00000547488.1_Frame_Shift_Ins_p.S569fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	536					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CGTCCTGGTGAGGGGGGGCCCT	0.639																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(1603-1608)cccaccfs		mitogen-activated protein kinase kinase kinase 12																																				SO:0001589	frameshift_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53876882_53876883insG	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1606dupC	12.37:g.53876889_53876889dupG	ENSP00000267079:p.Ser536fs					MAP3K12_ENST00000547035.1_Frame_Shift_Ins_p.T569fs|MAP3K12_ENST00000547488.1_Frame_Shift_Ins_p.T569fs	p.T536fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			12	1830_1831	-			536					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Frame_Shift_Ins	INS	ENST00000267079.2	37	c.1605_1606insC	CCDS8860.1																																																																																				0.639	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		9	153						9	153	---	---	---	---
NPFF	8620	broad.mit.edu	37	12	53898183	53898184	+	IGR	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:53898183_53898184insC	ENST00000267017.3	-	0	592				TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.SP51fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.SP121fs|TARBP2_ENST00000266987.2_Frame_Shift_Ins_p.SP142fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.SP121fs	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TCCTTCAGGAGCCCCCCCATGG	0.564																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(424-426)accfs		TAR (HIV-1) RNA binding protein 2																																				SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898183_53898184insC	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898190_53898190dupC						TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.T51fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.T121fs	p.T142fs	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			5	908_909	+			142					Q3SXL4	Frame_Shift_Ins	INS	ENST00000267017.3	37	c.425_426insC	CCDS8862.1																																																																																				0.564	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		7	195						7	195	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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			21	2116						21	2116	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2170-2172)cccfs	p.P724fs	DGKA_ENST00000394147.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.P724fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	724					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2167-2172)ccccccfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347513_56347514insC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2176dupC	12.37:g.56347520_56347520dupC	ENSP00000328405:p.Pro724fs					DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs	p.PP723fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			24	2623_2624	+			723					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	c.2169_2170insC	CCDS8896.1																																																																																				0.579	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			7	152						7	152	---	---	---	---
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)cggfs	p.R579fs	IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.R477fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.R534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.R579fs|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1735-1737)gggfs		IKAROS family zinc finger 4 (Eos)																																				SO:0001589	frameshift_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56429092_56429093insG	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1741dupG	12.37:g.56429098_56429098dupG	ENSP00000262032:p.Arg579fs					RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs	p.G579fs			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	2102_2103	+			579					Q96JP3	Frame_Shift_Ins	INS	ENST00000262032.5	37	c.1735_1736insG	CCDS44917.1																																																																																				0.554	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		28	827						28	827	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558259	56558260	+	Frame_Shift_Ins	INS	-	-	G	rs528782426		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:56558259_56558260insG	ENST00000267064.4	-	27	3481_3482	c.3395_3396insC	c.(3394-3396)ccafs	p.P1132fs	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1163fs|SMARCC2_ENST00000394023.3_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1132	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCAGGTTAGGTGGGGGGAGAGT	0.614																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3487-3489)cccfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558259_56558260insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3396dupC	12.37:g.56558265_56558265dupG	ENSP00000267064:p.Pro1132fs					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000347471.4_Intron	p.P1163fs			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3502_3503	-			1132			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3488_3489insC	CCDS8907.1																																																																																				0.614	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			10	441						10	441	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1465-1470)ccaggcfs		signal transducer and activator of transcription 2, 113kDa																																				SO:0001589	frameshift_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742816_56742817insG	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1468dupC	12.37:g.56742823_56742823dupG	ENSP00000315768:p.Lys490fs					STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs	p.G490fs			P52630	STAT2_HUMAN			17	1490_1491	-			490					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Frame_Shift_Ins	INS	ENST00000314128.4	37	c.1467_1468insC	CCDS8917.1																																																																																				0.594	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		20	389						20	389	---	---	---	---
BAZ2A	11176	broad.mit.edu	37	12	57009177	57009178	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:57009177_57009178insC	ENST00000551812.1	-	3	549_550	c.356_357insG	c.(355-357)ggafs	p.G119fs	BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.G117fs|BAZ2A_ENST00000179765.5_Frame_Shift_Ins_p.G117fs|BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.G119fs	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	119					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTGGGTATTGTCCCCCCGAGAA	0.584																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(349-351)gcafs		bromodomain adjacent to zinc finger domain, 2A																																				SO:0001589	frameshift_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57009177_57009178insC	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.357dupG	12.37:g.57009183_57009183dupC	ENSP00000446880:p.Gly119fs					BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000551812.1_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.A117fs	p.A117fs			Q9UIF9	BAZ2A_HUMAN			3	549_550	-			119					B3KN66|O00536|O15030|Q68DI8|Q96H26	Frame_Shift_Ins	INS	ENST00000551812.1	37	c.350_351insG	CCDS44924.1																																																																																				0.584	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		8	218						8	218	---	---	---	---
NACA	4666	broad.mit.edu	37	12	57114417	57114418	+	Frame_Shift_Ins	INS	-	-	G	rs192511809	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:57114417_57114418insG	ENST00000454682.1	-	3	1177_1178	c.896_897insC	c.(895-897)ccafs	p.P299fs	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.P299fs|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	299	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGAAAATCTGGGGGGGTGTT	0.49			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(895-897)cgafs		nascent polypeptide-associated complex alpha subunit																																				SO:0001589	frameshift_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57114417_57114418insG	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.897dupC	12.37:g.57114424_57114424dupG	ENSP00000403817:p.Pro299fs					NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	p.R299fs	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	1177_1178	-			0						Frame_Shift_Ins	INS	ENST00000454682.1	37	c.896_897insC																																																																																					0.490	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		7	39						7	39	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4462-4464)gggfs	p.G1488fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1488					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4459-4464)taggggfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572241_57572242insG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4468dupG	12.37:g.57572248_57572248dupG	ENSP00000243077:p.Gly1488fs						p.*G1487fs	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4927_4928	+			1487					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.4461_4462insG	CCDS8932.1																																																																																				0.589	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		14	292						14	292	---	---	---	---
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)ccafs	p.P200fs	DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.P205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.P177fs|DCTN2_ENST00000434715.3_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_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs	p.R200fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN			7	866_867	-			200					B2RBK5|Q86YN2|Q9BW17	Frame_Shift_Ins	INS	ENST00000548249.1	37	c.599_600insC	CCDS58245.1																																																																																				0.500	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		13	613						13	613	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000544561.1_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	313	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(952-957)aaccccfs		MDM2 oncogene, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233089_69233090insC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.868dupC	12.37:g.69233096_69233096dupC	ENSP00000266624:p.Pro288fs					MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000478070.1_3'UTR	p.NP318fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1256_1257	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		312			Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Ins	INS	ENST00000350057.5	37	c.954_955insC																																																																																					0.426	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		8	386						8	386	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)cccaggfs	p.R445fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.R339fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.R232fs|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	445					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1330-1335)ccgggcfs		bestrophin 3																																				SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049361_70049362insG	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1333dupC	12.37:g.70049368_70049368dupG	ENSP00000332413:p.Arg445fs					BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs	p.PG444fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1558_1559	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		444					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Ins	INS	ENST00000330891.5	37	c.1332_1333insC	CCDS8992.2																																																																																				0.594	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		12	295						12	295	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs	p.P398fs			Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		10	374						10	374	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94975857	94975858	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:94975857_94975858insG	ENST00000261226.4	-	2	666_667	c.535_536insC	c.(535-537)catfs	p.H179fs	TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.H148fs	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	179						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTCCATGCAATGGGGGGCAGTT	0.495																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(535-537)ttgfs		transmembrane and coiled-coil domain family 3																																				SO:0001589	frameshift_variant	57458					integral to membrane		g.chr12:94975857_94975858insG	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.536dupC	12.37:g.94975863_94975863dupG	ENSP00000261226:p.His179fs					TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.L148fs	p.L179fs	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	666_667	-			179					Q8IWB2	Frame_Shift_Ins	INS	ENST00000261226.4	37	c.535_536insC	CCDS31877.1																																																																																				0.495	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		12	1162						12	1162	---	---	---	---
PAH	5053	broad.mit.edu	37	12	103237523	103237524	+	Frame_Shift_Ins	INS	-	-	G	rs62508574|rs62506951|rs62508620|rs62517203|rs62516097		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:103237523_103237524insG	ENST00000553106.1	-	11	1571_1572	c.1099_1100insC	c.(1099-1101)ctgfs	p.L367fs	PAH_ENST00000307000.2_Frame_Shift_Ins_p.L362fs	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	367			Missing (in PKU). {ECO:0000269|PubMed:1363837}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTCCAGCTCCAGGGGGAGAAGC	0.465																																						ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27	GRCh37	CD015350|CI983180|CM993959|HM971459	PAH	D|I|M	rs62506951|rs62508574	c.(1099-1101)ggafs		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)																																			SO:0001589	frameshift_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103237523_103237524insG	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1100dupC	12.37:g.103237528_103237528dupG	ENSP00000448059:p.Leu367fs					PAH_ENST00000307000.2_Frame_Shift_Ins_p.G362fs	p.G367fs	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			11	1571_1572	-			367		Missing (in PKU).			Q16717|Q8TC14	Frame_Shift_Ins	INS	ENST00000553106.1	37	c.1099_1100insC	CCDS9092.1																																																																																				0.465	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			7	853						7	853	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104131518	104131519	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:104131518_104131519insG	ENST00000388887.2	+	53	5861_5862	c.5657_5658insG	c.(5656-5661)ctggggfs	p.LG1886fs		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATCCCACCCTGGGGGGCCGCT	0.51																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(5656-5658)cggfs		stabilin 2																																				SO:0001589	frameshift_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104131518_104131519insG	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5663dupG	12.37:g.104131524_104131524dupG	ENSP00000373539:p.Leu1886fs						p.R1886fs	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			53	5861_5862	+			1886						Frame_Shift_Ins	INS	ENST00000388887.2	37	c.5657_5658insG	CCDS31888.1																																																																																				0.510	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			7	638						7	638	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109604774	109604775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:109604774_109604775insG	ENST00000338432.7	+	3	881_882	c.762_763insG	c.(763-765)gggfs	p.G255fs	ACACB_ENST00000377854.5_Frame_Shift_Ins_p.G255fs|ACACB_ENST00000377848.3_Frame_Shift_Ins_p.G255fs			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	255					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)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCACACGCTTTGGGGGGGATCG	0.614																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(760-765)ttggggfs		acetyl-CoA carboxylase beta	Biotin(DB00121)																																			SO:0001589	frameshift_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109604774_109604775insG	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.769dupG	12.37:g.109604781_109604781dupG	ENSP00000341044:p.Gly255fs					ACACB_ENST00000377848.3_Frame_Shift_Ins_p.LG254fs|ACACB_ENST00000377854.5_Frame_Shift_Ins_p.LG254fs	p.LG254fs			O00763	ACACB_HUMAN			3	881_882	+			254					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Frame_Shift_Ins	INS	ENST00000338432.7	37	c.762_763insG	CCDS31898.1																																																																																				0.614	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		13	326						13	326	---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109939222	109939223	+	Frame_Shift_Ins	INS	-	-	G	rs368887776		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:109939222_109939223insG	ENST00000342494.3	+	13	1760_1761	c.1165_1166insG	c.(1165-1167)tggfs	p.W389fs	UBE3B_ENST00000434735.2_Frame_Shift_Ins_p.W389fs|UBE3B_ENST00000280774.5_Frame_Shift_Ins_p.W389fs	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	389					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCAGTTCTTGTGGGGGGTGCCT	0.554																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(1165-1167)gggfs		ubiquitin protein ligase E3B																																				SO:0001589	frameshift_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109939222_109939223insG	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1171dupG	12.37:g.109939228_109939228dupG	ENSP00000340596:p.Trp389fs					UBE3B_ENST00000434735.2_Frame_Shift_Ins_p.G389fs|UBE3B_ENST00000280774.5_Frame_Shift_Ins_p.G389fs	p.G389fs	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			13	1760_1761	+			389					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Frame_Shift_Ins	INS	ENST00000342494.3	37	c.1165_1166insG	CCDS9129.1																																																																																				0.554	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		13	824						13	824	---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112130538	112130539	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:112130538_112130539insC	ENST00000313698.4	+	2	180_181	c.25_26insC	c.(25-27)tccfs	p.S9fs	ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.S9fs|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Frame_Shift_Ins_p.S9fs	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	9						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.S9F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGTTTCCAGTCCCCCCGTCTC	0.619																																						ENST00000455480.2																			1	Substitution - Missense(1)	p.S9F(1)	skin(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(25-27)cccfs		acyl-CoA dehydrogenase family, member 10																																				SO:0001589	frameshift_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112130538_112130539insC	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.31dupC	12.37:g.112130544_112130544dupC	ENSP00000325137:p.Ser9fs					ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000413681.3_3'UTR	p.P9fs	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			2	202_203	+			9					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Frame_Shift_Ins	INS	ENST00000313698.4	37	c.25_26insC	CCDS31903.1																																																																																				0.619	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		18	942						18	942	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G	rs369159999		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC8B1_ENST00000202831.3_Splice_Site|SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000546737.1_Intron			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1						cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										CGCCAGCGCCTGGGGGGAGGAG	0.644																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.e8-2						0,4260		0,0,2130						3.3	0.4		dbSNP_126	108	1,8251		0,1,4125	no	splice-3	SLC24A6	NM_024959.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001630	splice_region_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758305_113758306insG	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.527-2->C	12.37:g.113758311_113758311dupG						SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000546737.1_Intron				Q6J4K2	NCKX6_HUMAN			8	1042	-								A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Splice_Site	INS	ENST00000552014.1	37		CCDS31909.1																																																																																				0.644	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	Intron	12	764						12	764	---	---	---	---
SDSL	113675	broad.mit.edu	37	12	113872000	113872001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:113872000_113872001insC	ENST00000403593.4	+	5	678_679	c.416_417insC	c.(415-420)gtccccfs	p.VP139fs	SDSL_ENST00000345635.4_Frame_Shift_Ins_p.VP139fs			Q96GA7	SDSL_HUMAN	serine dehydratase-like	139					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						TGGGAGAATGTCCCCCCGTTTG	0.614																																						ENST00000403593.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(415-417)gccfs		serine dehydratase-like	Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113872000_113872001insC	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.422dupC	12.37:g.113872006_113872006dupC	ENSP00000385790:p.Val139fs					SDSL_ENST00000345635.4_Frame_Shift_Ins_p.A139fs	p.A139fs			Q96GA7	SDSL_HUMAN			5	678_679	+			139						Frame_Shift_Ins	INS	ENST00000403593.4	37	c.416_417insC	CCDS9170.1																																																																																				0.614	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		7	924						7	924	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:117977604_117977605insG	ENST00000339824.5	-	10	2333_2334	c.1606_1607insC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000302438.5_Frame_Shift_Ins_p.L233fs|KSR2_ENST00000425217.1_Frame_Shift_Ins_p.L507fs|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1519-1521)cccfs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977604_117977605insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1607dupC	12.37:g.117977611_117977611dupG	ENSP00000339952:p.Leu536fs					KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000545002.1_5'UTR	p.P507fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			10	1573_1574	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.1519_1520insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		8	297						8	297	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		15	297						15	297	---	---	---	---
TCTN2	79867	broad.mit.edu	37	12	124171533	124171534	+	Frame_Shift_Ins	INS	-	-	C	rs149186771		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:124171533_124171534insC	ENST00000303372.5	+	6	843_844	c.715_716insC	c.(715-717)tccfs	p.S239fs	TCTN2_ENST00000426174.2_Frame_Shift_Ins_p.S238fs	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	239					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GTGTGTGCAGTCCCCCCTTGCC	0.564																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(715-717)cccfs		tectonic family member 2																																				SO:0001589	frameshift_variant	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124171533_124171534insC	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.721dupC	12.37:g.124171539_124171539dupC	ENSP00000304941:p.Ser239fs					TCTN2_ENST00000426174.2_Frame_Shift_Ins_p.P238fs	p.P239fs	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	6	843_844	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		239					A8K7Y8|B3KPW5|Q9H966	Frame_Shift_Ins	INS	ENST00000303372.5	37	c.715_716insC	CCDS9253.1																																																																																				0.564	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		18	2065						18	2065	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124846815	124846816	+	Frame_Shift_Ins	INS	-	-	G	rs561270684		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:124846815_124846816insG	ENST00000405201.1	-	22	2956_2957	c.2956_2957insC	c.(2956-2958)cggfs	p.R986fs	NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.R969fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.R539fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.R968fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.R968fs|NCOR2_ENST00000356219.3_Frame_Shift_Ins_p.R985fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	986					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGCGTCCTCCCGGGGGGGCTCA	0.653																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2953-2955)ggafs		nuclear receptor corepressor 2			,,	13,3867		1,11,1928					,,	3.1	1.0			16	18,7950		0,18,3966	no	frameshift,frameshift,frameshift	NCOR2	NM_006312.5,NM_001206654.1,NM_001077261.3	,,	1,29,5894	A1A1,A1R,RR		0.2259,0.3351,0.2616	,,	,,		31,11817				SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124846815_124846816insG	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2957dupC	12.37:g.124846822_124846822dupG	ENSP00000384018:p.Arg986fs					NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.G968fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.G986fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.G968fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.G539fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.G969fs	p.G985fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	23	3108_3109	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		986					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Ins	INS	ENST00000405201.1	37	c.2953_2954insC	CCDS41858.2																																																																																				0.653	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		2	4						2	4	---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25480659	25480660	+	In_Frame_Ins	INS	-	-	AAA			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr13:25480659_25480660insAAA	ENST00000381884.4	-	7	1701_1702	c.1516_1517insTTT	c.(1516-1518)tgt>tTTTgt	p.505_506insF	CENPJ_ENST00000545981.1_In_Frame_Ins_p.505_506insF	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	505					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGGTTTTGGACACTCAGTTACA	0.436																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1516-1518)tcc>TTTtcc		centromere protein J																																				SO:0001652	inframe_insertion	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480659_25480660insAAA	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1516_1517insTTT	13.37:g.25480659_25480660insAAA	ENSP00000371308:p.Glu505_Cys506insPhe					CENPJ_ENST00000545981.1_In_Frame_Ins_p.505_506insF	p.505_506insF	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	1701_1702	-		Lung SC(185;0.0225)|Breast(139;0.0602)	505					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	In_Frame_Ins	INS	ENST00000381884.4	37	c.1516_1517insTTT	CCDS9310.1																																																																																				0.436	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		7	176						7	176	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-	rs371570689		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aaafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428																																						ENST00000281589.3																			1	Deletion - Frameshift(1)	p.F335fs*19(1)	ovary(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(997-999)aafs		poly(A) binding protein, cytoplasmic 3							162.0	159.0	160.0					13																	25671333		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671333delA	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.997delA	13.37:g.25671333delA	ENSP00000281589:p.Lys333fs						p.K333fs	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1034	+		Lung SC(185;0.0225)|Breast(139;0.0602)	333			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.997delA	CCDS9311.1																																																																																				0.428	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		10	942						10	942	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28608071	28608072	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr13:28608071_28608072insCC	ENST00000241453.7	-	15	1975_1976	c.1894_1895insGG	c.(1894-1896)attfs	p.I632fs	FLT3_ENST00000380982.4_Frame_Shift_Ins_p.I632fs|FLT3_ENST00000537084.1_Frame_Shift_Ins_p.I632fs	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	632	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTTTTGCTAATTCCATAAGCT	0.426			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1894-1896)tagfs		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28608071_28608072insCC	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1894_1895insGG	13.37:g.28608071_28608072insCC	ENSP00000241453:p.Ile632fs					FLT3_ENST00000241453.7_Frame_Shift_Ins_p.*632fs|FLT3_ENST00000537084.1_Frame_Shift_Ins_p.*632fs	p.*632fs			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	15	1975_1976	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	632			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Frame_Shift_Ins	INS	ENST00000241453.7	37	c.1894_1895insGG	CCDS31953.1																																																																																				0.426	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			115	1248						115	1248	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1324-1329)gggagafs		kelch repeat and BTB (POZ) domain containing 6																																				SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41705321_41705322insC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs					KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	p.R443fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1560_1561	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	443					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	ENST00000379485.1	37	c.1326_1327insG	CCDS9376.1																																																																																				0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		16	238						16	238	---	---	---	---
CPB2	1361	broad.mit.edu	37	13	46658415	46658416	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr13:46658415_46658416insA	ENST00000181383.4	-	3	229_230	c.213_214insT	c.(211-216)tttgtafs	p.V72fs	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Frame_Shift_Ins_p.V72fs|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	72					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GATGCATTTACAAAAAAATGGA	0.361																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(211-216)tttaaafs		carboxypeptidase B2 (plasma)																																				SO:0001589	frameshift_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46658415_46658416insA	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.214dupT	13.37:g.46658422_46658422dupA	ENSP00000181383:p.Val72fs					CPB2_ENST00000439329.3_Frame_Shift_Ins_p.K72fs|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	p.K72fs	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	3	229_230	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	72					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Frame_Shift_Ins	INS	ENST00000181383.4	37	c.213_214insT	CCDS9401.1																																																																																				0.361	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		7	265						7	265	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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_ENST00000357063.3_Frame_Shift_Ins_p.G269fs|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.G269fs|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR	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					RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs	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		14	841						14	841	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77641916	77641917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr13:77641916_77641917insG	ENST00000544440.2	-	71	12157_12158	c.12140_12141insC	c.(12139-12141)ccafs	p.P4047fs	MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.P4047fs|MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.P4085fs					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATATCTGCTGGGGGGAGGGA	0.436																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(12253-12255)cgcfs		MYC binding protein 2, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77641916_77641917insG	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12141dupC	13.37:g.77641922_77641922dupG	ENSP00000444596:p.Pro4047fs					MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.R4047fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.R4047fs	p.R4085fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	71	12520_12521	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4047						Frame_Shift_Ins	INS	ENST00000544440.2	37	c.12254_12255insC																																																																																					0.436	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		10	519						10	519	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88330396	88330397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr13:88330396_88330397insC	ENST00000325089.6	+	2	2972_2973	c.2753_2754insC	c.(2752-2757)agccccfs	p.SP918fs	SLITRK5_ENST00000400028.3_Frame_Shift_Ins_p.SP677fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	918					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)		p.S918I(1)		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)					GTGCTCTACAGCCCCCCGAGTG	0.545																																						ENST00000325089.6																			1	Substitution - Missense(1)	p.S918I(1)	lung(1)	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.(2752-2754)accfs		SLIT and NTRK-like family, member 5																																				SO:0001589	frameshift_variant	26050					integral to membrane		g.chr13:88330396_88330397insC	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.2759dupC	13.37:g.88330402_88330402dupC	ENSP00000366283:p.Ser918fs					SLITRK5_ENST00000400028.3_Frame_Shift_Ins_p.T677fs	p.T918fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2972_2973	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		918					B3KNB8|B4DSH5|Q5VT81	Frame_Shift_Ins	INS	ENST00000325089.6	37	c.2753_2754insC	CCDS9465.1																																																																																				0.545	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			7	162						7	162	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.46																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 5																																				SO:0001589	frameshift_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612063_20612064insC		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.175dupC	14.37:g.20612069_20612069dupC	ENSP00000332110:p.Ala57fs						p.P57fs	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IF11	Frame_Shift_Ins	INS	ENST00000333629.1	37	c.169_170insC	CCDS32031.1																																																																																				0.460	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			9	618						9	618	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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			8	384						8	384	---	---	---	---
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C	rs570668890	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		11	298						11	298	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G	rs386775580		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)gctfs	p.A447fs	ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.A407fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.A389fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.A447fs|ACIN1_ENST00000555352.1_5'Flank	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	222						9	222	---	---	---	---
DHRS4L1	728635	broad.mit.edu	37	14	24518025	24518025	+	RNA	DEL	G	G	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:24518025delG	ENST00000558293.1	+	0	668					NR_102693.1																						AGGATGGTGAGGAAGGGGAGC	0.537																																						ENST00000558293.1																			0													dehydrogenase/reductase (SDR family) member 4 like 1							136.0	129.0	131.0					14																	24518025		2203	4300	6503			728635							g.chr14:24518025delG																													14.37:g.24518025delG								NR_102693.1						0	668	+									RNA	DEL	ENST00000558293.1	37																																																																																						0.537	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			7	617						7	617	---	---	---	---
NEDD8	4738	broad.mit.edu	37	14	24687374	24687375	+	Frame_Shift_Ins	INS	-	-	G	rs74744808		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:24687374_24687375insG	ENST00000250495.5	-	3	299_300	c.113_114insC	c.(112-114)ccafs	p.P38fs	NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Frame_Shift_Ins_p.P38fs|MDP1_ENST00000532557.1_5'Flank|MDP1_ENST00000396833.2_5'Flank|NEDD8_ENST00000524927.1_Frame_Shift_Ins_p.P38fs|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000288087.7_5'Flank	NM_006156.2	NP_006147.1	Q15843	NEDD8_HUMAN	neural precursor cell expressed, developmentally down-regulated 8	38					anatomical structure morphogenesis (GO:0009653)|cellular protein modification process (GO:0006464)|protein localization (GO:0008104)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to organic cyclic compound (GO:0014070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TCTGCTGTTGTGGGGGGATTCC	0.525																																						ENST00000250495.5																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(112-114)ccafs		neural precursor cell expressed, developmentally down-regulated 8																																				SO:0001589	frameshift_variant	4738							g.chr14:24687374_24687375insG	D23662	CCDS9621.1	14q11.2	2008-08-13			ENSG00000129559	ENSG00000129559			7732	protein-coding gene	gene with protein product		603171				9353319	Standard	NM_006156		Approved	Nedd-8		Q15843	OTTHUMG00000029325	ENST00000250495.5:c.114dupC	14.37:g.24687380_24687380dupG	ENSP00000250495:p.Pro38fs					NEDD8_ENST00000524927.1_Frame_Shift_Ins_p.P38fs|NEDD8-MDP1_ENST00000534348.1_Frame_Shift_Ins_p.P38fs|NEDD8-MDP1_ENST00000604306.1_5'UTR	p.P38fs	NM_006156.2	NP_006147.1				GBM - Glioblastoma multiforme(265;0.0186)	3	299_300	-								Q3SXN8|Q6LES6	Frame_Shift_Ins	INS	ENST00000250495.5	37	c.113_114insC	CCDS9621.1																																																																																				0.525	NEDD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073146.2	NM_006156		7	360						7	360	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24885703	24885708	+	In_Frame_Del	DEL	GCAGGA	GCAGGA	-	rs368421154		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:24885703_24885708delGCAGGA	ENST00000382554.3	+	9	5066_5071	c.4748_4753delGCAGGA	c.(4747-4755)tgcaggagc>tgc	p.RS1584del		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1584					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAAGATTACTGCAGGAGCTGCTTGTT	0.583																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(4747-4755)tgc>t		NYN domain and retroviral integrase containing																																				SO:0001651	inframe_deletion	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24885703_24885708delGCAGGA	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4748_4753delGCAGGA	14.37:g.24885703_24885708delGCAGGA	ENSP00000371994:p.Arg1584_Ser1585del						p.CRS1583del	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	5066_5071	+			1583					Q6P153|Q86TR3|Q9HAC4	In_Frame_Del	DEL	ENST00000382554.3	37	c.4748_4753delGCAGGA	CCDS45090.1																																																																																				0.583	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			13	53						13	53	---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25042847	25042848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:25042847_25042848insG	ENST00000216336.2	-	5	799_800	c.763_764insC	c.(763-765)ctgfs	p.L255fs		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	255					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCAGTCACAGGGGGGTCTCC	0.49																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(763-765)gtgfs		cathepsin G																																				SO:0001589	frameshift_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25042847_25042848insG	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.764dupC	14.37:g.25042853_25042853dupG	ENSP00000216336:p.Leu255fs						p.V255fs	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	5	799_800	-			255					Q6IBJ6|Q9UCA5|Q9UCU6	Frame_Shift_Ins	INS	ENST00000216336.2	37	c.763_764insC	CCDS9631.1																																																																																				0.490	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		10	1225						10	1225	---	---	---	---
PAX9	5083	broad.mit.edu	37	14	37145441	37145442	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:37145441_37145442insC	ENST00000361487.6	+	4	1035_1036	c.810_811insC	c.(811-813)gcafs	p.A271fs	PAX9_ENST00000402703.2_Frame_Shift_Ins_p.A271fs|PAX9_ENST00000554201.1_Frame_Shift_Ins_p.QH80fs|PAX9_ENST00000557107.1_3'UTR			P55771	PAX9_HUMAN	paired box 9	271					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GTTTTGTGTCAGCATCCAGCAT	0.485																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(808-813)tccatcfs		paired box 9																																				SO:0001589	frameshift_variant	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37145441_37145442insC	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	Exception_encountered	14.37:g.37145441_37145442insC	ENSP00000355245:p.Ala271fs					PAX9_ENST00000554201.1_Frame_Shift_Ins_p.P80fs|PAX9_ENST00000402703.2_Frame_Shift_Ins_p.I271fs|PAX9_ENST00000557107.1_3'UTR	p.I271fs			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	4	1035_1036	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		271					Q99582|Q9UQR4	Frame_Shift_Ins	INS	ENST00000361487.6	37	c.810_811insC	CCDS9662.1																																																																																				0.485	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			17	428						17	428	---	---	---	---
ABHD12B	145447	broad.mit.edu	37	14	51347189	51347190	+	Frame_Shift_Ins	INS	-	-	G	rs141865189|rs200952659		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:51347189_51347190insG	ENST00000337334.2	+	4	370_371	c.355_356insG	c.(355-357)cggfs	p.R119fs	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.R12fs|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.R42fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	119							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CCCCAGCTGCCGGGGGGAAGAT	0.49																																						ENST00000337334.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10						c.(355-357)gggfs		abhydrolase domain containing 12B																																				SO:0001589	frameshift_variant	145447						hydrolase activity	g.chr14:51347189_51347190insG	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.361dupG	14.37:g.51347195_51347195dupG	ENSP00000336693:p.Arg119fs					ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR	p.G119fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN			4	370_371	+	all_epithelial(31;0.00481)|Breast(41;0.148)		119					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Frame_Shift_Ins	INS	ENST00000337334.2	37	c.355_356insG	CCDS55916.1																																																																																				0.490	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			11	421						11	421	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		10	181						10	181	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		21	451						21	451	---	---	---	---
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cctfs	p.P239fs	MED6_ENST00000554963.1_Frame_Shift_Ins_p.P239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.P246fs|MED6_ENST00000440435.2_3'UTR	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.45																																						ENST00000256379.5																			1	Insertion - Frameshift(1)	p.E240fs*1(1)	skin(1)	large_intestine(2)|lung(2)|skin(1)	5						c.(715-717)cgafs		mediator complex subunit 6																																				SO:0001589	frameshift_variant	10001				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	g.chr14:71051554_71051555insG	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.717dupC	14.37:g.71051560_71051560dupG	ENSP00000256379:p.Pro239fs					MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000440435.2_3'UTR	p.R239fs	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	8	745_746	-			239					B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Frame_Shift_Ins	INS	ENST00000256379.5	37	c.716_717insC	CCDS9805.1																																																																																				0.450	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		10	790						10	790	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72165808	72165809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:72165808_72165809insG	ENST00000555818.1	+	11	3833_3834	c.3485_3486insG	c.(3484-3489)gtggggfs	p.VG1162fs	SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.VG1162fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.VG1162fs|SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.VG637fs	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1162					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTTCTGTGGGGGGCACTT	0.495																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3484-3486)gggfs		signal-induced proliferation-associated 1 like 1																																				SO:0001589	frameshift_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72165808_72165809insG	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3491dupG	14.37:g.72165814_72165814dupG	ENSP00000450832:p.Val1162fs					SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs	p.G1162fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	11	3833_3834	+			1162					J3KP19|O95321|Q9UDU4|Q9UNU4	Frame_Shift_Ins	INS	ENST00000555818.1	37	c.3485_3486insG	CCDS9807.1																																																																																				0.495	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		7	342						7	342	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824462	74824463	+	Frame_Shift_Ins	INS	-	-	G	rs533419765|rs201579420		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:74824462_74824463insG	ENST00000256362.4	+	2	1217_1218	c.976_977insG	c.(976-978)cggfs	p.R326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCTTCCACCGGGGGGGCGTC	0.644																																						ENST00000256362.4																			1	Insertion - Frameshift(1)	p.V329fs*25(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(976-978)gggfs		vertebrae development associated																																				SO:0001589	frameshift_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824462_74824463insG	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.983dupG	14.37:g.74824469_74824469dupG	ENSP00000256362:p.Arg326fs						p.G326fs	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1217_1218	+			326					Q9NVC7	Frame_Shift_Ins	INS	ENST00000256362.4	37	c.976_977insG	CCDS9830.1																																																																																				0.644	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		11	110						11	110	---	---	---	---
NPC2	10577	broad.mit.edu	37	14	74947387	74947388	+	Intron	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:74947387_74947388insC	ENST00000555619.1	-	4	679				NPC2_ENST00000541064.1_Intron|MIR4709_ENST00000577272.1_RNA|NPC2_ENST00000557510.1_Frame_Shift_Ins_p.G153fs|NPC2_ENST00000434013.2_Intron|NPC2_ENST00000238633.2_Intron	NM_006432.3	NP_006423.1	P61916	NPC2_HUMAN	Niemann-Pick disease, type C2						cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|glycolipid transport (GO:0046836)|intracellular cholesterol transport (GO:0032367)|intracellular sterol transport (GO:0032366)|phospholipid transport (GO:0015914)|regulation of isoprenoid metabolic process (GO:0019747)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		ATGCCCTCTCACCCCCAGATAG	0.45																																					Pancreas(93;260 1497 8575 30964 48133)	ENST00000557510.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7						c.(457-459)ggafs		Niemann-Pick disease, type C2																																				SO:0001627	intron_variant	10577				cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding	g.chr14:74947387_74947388insC	X67698	CCDS32121.1	14q24.3	2009-09-12				ENSG00000119655			14537	protein-coding gene	gene with protein product	"""epididymal protein 1"""	601015				8418812, 11125141	Standard	NM_006432		Approved	HE1, NP-C2, EDDM1	uc001xpy.3	P61916		ENST00000555619.1:c.441+16->G	14.37:g.74947392_74947392dupC						NPC2_ENST00000541064.1_Intron|NPC2_ENST00000555619.1_Intron|NPC2_ENST00000434013.2_Intron|NPC2_ENST00000238633.2_Intron	p.G153fs			P61916	NPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00149)	4	530_531	-			0					B4DQV7|Q15668|Q29413	Frame_Shift_Ins	INS	ENST00000555619.1	37	c.458_459insG	CCDS32121.1																																																																																				0.450	NPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412346.1	NM_006432		7	855						7	855	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	75016598	75016599	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:75016598_75016599insC	ENST00000261978.4	-	8	2142_2143	c.1756_1757insG	c.(1756-1758)gtgfs	p.V586fs	LTBP2_ENST00000557425.1_5'UTR|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.V586fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	586	TB 1.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACACAAAGTCACCCCCCAGAAG	0.629																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1756-1758)gacfs		latent transforming growth factor beta binding protein 2																																				SO:0001589	frameshift_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75016598_75016599insC		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1757dupG	14.37:g.75016604_75016604dupC	ENSP00000261978:p.Val586fs					LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.D586fs|LTBP2_ENST00000557425.1_5'UTR	p.D586fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	8	2142_2143	-			586			TB 1.		Q99907|Q9NS51	Frame_Shift_Ins	INS	ENST00000261978.4	37	c.1756_1757insG	CCDS9831.1																																																																																				0.629	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		9	278						9	278	---	---	---	---
GALC	2581	broad.mit.edu	37	14	88406275	88406276	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:88406275_88406276insT	ENST00000261304.2	-	16	1990_1991	c.1884_1885insA	c.(1882-1887)aaatggfs	p.W629fs	GALC_ENST00000544807.2_Frame_Shift_Ins_p.W573fs|GALC_ENST00000393568.4_Frame_Shift_Ins_p.W606fs|GALC_ENST00000393569.2_Frame_Shift_Ins_p.W603fs	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	629					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTGTATACCATTTTTTTGCTG	0.307																																						ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1882-1887)aaggtafs		galactosylceramidase																																				SO:0001589	frameshift_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88406275_88406276insT	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1885dupA	14.37:g.88406282_88406282dupT	ENSP00000261304:p.Trp629fs					GALC_ENST00000393569.2_Frame_Shift_Ins_p.V603fs|GALC_ENST00000544807.2_Frame_Shift_Ins_p.V573fs|GALC_ENST00000393568.4_Frame_Shift_Ins_p.V606fs	p.V629fs	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			16	1990_1991	-			629					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Frame_Shift_Ins	INS	ENST00000261304.2	37	c.1884_1885insA	CCDS9878.2																																																																																				0.307	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			7	467						7	467	---	---	---	---
ZC3H14	79882	broad.mit.edu	37	14	89069237	89069238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:89069237_89069238insC	ENST00000251038.5	+	12	1805_1806	c.1580_1581insC	c.(1579-1584)agccccfs	p.SP527fs	ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Frame_Shift_Ins_p.SP527fs|ZC3H14_ENST00000393514.5_Frame_Shift_Ins_p.SP502fs|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000555900.1_Frame_Shift_Ins_p.SP229fs|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000336693.4_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	527						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GGTGTCCCCAGCCCCCCAGGAT	0.47																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(1579-1581)accfs		zinc finger CCCH-type containing 14																																				SO:0001589	frameshift_variant	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89069237_89069238insC	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1586dupC	14.37:g.89069243_89069243dupC	ENSP00000251038:p.Ser527fs					ZC3H14_ENST00000555900.1_Frame_Shift_Ins_p.T229fs|ZC3H14_ENST00000555755.1_Frame_Shift_Ins_p.T527fs|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000393514.5_Frame_Shift_Ins_p.T502fs|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000302216.8_Intron	p.T527fs	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			12	1805_1806	+			527					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Frame_Shift_Ins	INS	ENST00000251038.5	37	c.1580_1581insC	CCDS32133.1																																																																																				0.470	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		9	621						9	621	---	---	---	---
PACS2	23241	broad.mit.edu	37	14	105818753	105818754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:105818753_105818754insC	ENST00000325438.8	+	3	750_751	c.246_247insC	c.(247-249)cccfs	p.P83fs	PACS2_ENST00000458164.2_Frame_Shift_Ins_p.P83fs|PACS2_ENST00000430725.2_Frame_Shift_Ins_p.P16fs|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000447393.1_Frame_Shift_Ins_p.P83fs			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	83					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGATTGTGCTGCCCCCCAGTGG	0.55											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(244-249)ctccccfs		phosphofurin acidic cluster sorting protein 2																																				SO:0001589	frameshift_variant	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105818753_105818754insC	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.252dupC	14.37:g.105818759_105818759dupC	ENSP00000321834:p.Pro83fs		OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_ENST00000325438.8_Frame_Shift_Ins_p.LP82fs|PACS2_ENST00000458164.2_Frame_Shift_Ins_p.LP82fs|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_Frame_Shift_Ins_p.LP15fs	p.LP82fs	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	3	421_422	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	82					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Frame_Shift_Ins	INS	ENST00000325438.8	37	c.246_247insC	CCDS32168.1																																																																																				0.550	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		7	666						7	666	---	---	---	---
IGHD	3495	broad.mit.edu	37	14	106311791	106311792	+	RNA	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:106311791_106311792insG	ENST00000390556.2	-	0	218_219							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCACTGCTGGAGGGGGGTGGAG	0.594																																						ENST00000390556.2																			0																																																			3495							g.chr14:106311791_106311792insG	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106311797_106311797dupG														0	218_219	-								Q6P4I8|Q8WU38	RNA	INS	ENST00000390556.2	37																																																																																						0.594	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		8	313						8	313	---	---	---	---
IGHV3OR15-7	28318	broad.mit.edu	37	15	20193163	20193164	+	RNA	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:20193163_20193164insC	ENST00000558565.2	-	0	103_104									immunoglobulin heavy variable 3/OR15-7 (pseudogene)																		GTCTCAGAGAACCCCCAGGCTG	0.564																																						ENST00000558565.2																			0																																																			28318							g.chr15:20193163_20193164insC	Z29597		15q11.2	2012-06-12	2011-04-15		ENSG00000259490	ENSG00000259490		"""Immunoglobulins / IGH orphons"""	5633	pseudogene	immunoglobulin pseudogene			"""immunoglobulin heavy variable 3/OR15-7"", ""immunoglobulin heavy variable 3/OR15-7 pseudogene"""				Standard			Approved	IGHV3/OR15-7			OTTHUMG00000171835		15.37:g.20193168_20193168dupC														0	103_104	-									RNA	INS	ENST00000558565.2	37																																																																																						0.564	IGHV3OR15-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415305.2			7	359						7	359	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNORD116-6_ENST00000384711.1_RNA|SNORD116-5_ENST00000384462.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATGAGTCCTCCAAAAAAAACAT	0.475																																						ENST00000549804.2																			0																																																			104472715							g.chr15:25310192_25310193insA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310200_25310200dupA						SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA								0	538	+									RNA	INS	ENST00000549804.2	37																																																																																						0.475	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			8	408						8	408	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25449554	25449564	+	RNA	DEL	AAATCATTCTC	AAATCATTCTC	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:25449554_25449564delAAATCATTCTC	ENST00000424208.1	+	0	2339				SNORD115-19_ENST00000363098.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-20_ENST00000365099.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GATGACTTAAAAATCATTCTCAAAAGGATTA	0.512																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25449554_25449564delAAATCATTCTC			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.25449554_25449564delAAATCATTCTC						SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA		NR_003305.1						0	2339	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.512	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			24	173						24	173	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28478873	28478874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:28478873_28478874insG	ENST00000261609.7	-	28	4395_4396	c.4287_4288insC	c.(4285-4290)cccgagfs	p.E1430fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.P1429P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCTCGGGGGGAAACA	0.45																																						ENST00000261609.7																			1	Substitution - coding silent(1)	p.P1429P(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(4285-4290)ccagcafs		HECT and RLD domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28478873_28478874insG	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4288dupC	15.37:g.28478879_28478879dupG	ENSP00000261609:p.Glu1430fs						p.A1430fs	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	28	4395_4396	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1430						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.4287_4288insC	CCDS10021.1																																																																																				0.450	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		13	424						13	424	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		13	179						13	179	---	---	---	---
EHD4	30844	broad.mit.edu	37	15	42192889	42192890	+	Frame_Shift_Ins	INS	-	-	G	rs145578237		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:42192889_42192890insG	ENST00000220325.4	-	6	1662_1663	c.1579_1580insC	c.(1579-1581)cacfs	p.H527fs	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	527	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GGGCACGAGGTGGGGGGGCAGG	0.673																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1579-1581)cctfs		EH-domain containing 4				15,4243		0,15,2114						4.7	1.0			23	11,8239		0,11,4114	no	frameshift	EHD4	NM_139265.3		0,26,6228	A1A1,A1R,RR		0.1333,0.3523,0.2079				26,12482				SO:0001589	frameshift_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42192889_42192890insG	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1580dupC	15.37:g.42192896_42192896dupG	ENSP00000220325:p.His527fs						p.P527fs	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1662_1663	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	527			EH.		Q9HAR1|Q9NZN2	Frame_Shift_Ins	INS	ENST00000220325.4	37	c.1579_1580insC	CCDS10081.1																																																																																				0.673	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		9	93						9	93	---	---	---	---
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs200121839|rs11542063	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:45353365_45353366insC	ENST00000267814.9	+	4	546_547	c.366_367insC	c.(367-369)cccfs	p.P123fs	SORD_ENST00000558580.1_Frame_Shift_Ins_p.P102fs|RP11-109D20.1_ENST00000560324.1_RNA	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	123					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		TCTGTGCCACGCCCCCCGATGA	0.53																																						ENST00000267814.9																			0				endometrium(2)|large_intestine(3)|lung(4)	9						c.(364-369)acccccfs		sorbitol dehydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45353365_45353366insC		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.372dupC	15.37:g.45353371_45353371dupC	ENSP00000267814:p.Pro123fs					SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs	p.TP122fs	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	4	546_547	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	122					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Frame_Shift_Ins	INS	ENST00000267814.9	37	c.366_367insC	CCDS10116.1																																																																																				0.530	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			10	384						10	384	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G	rs370777308		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		8	272						8	272	---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56386880	56386881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:56386880_56386881insG	ENST00000559447.2	-	9	3025_3026	c.2754_2755insC	c.(2752-2757)cccagcfs	p.S919fs	RFX7_ENST00000317318.6_Frame_Shift_Ins_p.S1016fs|RFX7_ENST00000423270.1_Frame_Shift_Ins_p.S1016fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.S919fs			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	919					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCAACAGGGCTGGGGGGGACAC	0.5																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3043-3048)ccgcccfs		regulatory factor X, 7																																				SO:0001589	frameshift_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56386880_56386881insG			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2755dupC	15.37:g.56386887_56386887dupG	ENSP00000453281:p.Ser919fs					RFX7_ENST00000317318.6_Frame_Shift_Ins_p.P1016fs|RFX7_ENST00000559447.2_Frame_Shift_Ins_p.P919fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.P919fs	p.P1016fs	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	3044_3045	-			919					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Frame_Shift_Ins	INS	ENST00000559447.2	37	c.3045_3046insC																																																																																					0.500	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		13	216						13	216	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4222-4224)cccfs	p.P1408fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1408						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.47											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(4219-4224)ccccccfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64973566_64973567insC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.4227dupC	15.37:g.64973572_64973572dupC	ENSP00000316527:p.Pro1408fs		OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080		p.PP1407fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			8	4349_4350	+			1407					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.4221_4222insC	CCDS32270.1																																																																																				0.470	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		31	1774						31	1774	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65684710	65684711	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:65684710_65684711insG	ENST00000352385.2	-	11	2095		c.e11-2			NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CAAAAGGGACTGGGGGGCAGAG	0.564																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.e11-2		immunoglobulin superfamily, DCC subclass, member 4																																				SO:0001630	splice_region_variant	57722					integral to membrane|plasma membrane		g.chr15:65684710_65684711insG		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1886-2->C	15.37:g.65684716_65684716dupG								NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			11	2095	-								Q9HCE4	Splice_Site	INS	ENST00000352385.2	37		CCDS10206.1																																																																																				0.564	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962	Intron	7	173						7	173	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65917264	65917265	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:65917264_65917265insC	ENST00000261892.6	+	2	1133_1134	c.846_847insC	c.(847-849)cccfs	p.P283fs	SLC24A1_ENST00000339868.6_Frame_Shift_Ins_p.P283fs|SLC24A1_ENST00000544319.2_Frame_Shift_Ins_p.P283fs|SLC24A1_ENST00000537259.1_Frame_Shift_Ins_p.P283fs|SLC24A1_ENST00000399033.4_Frame_Shift_Ins_p.P283fs|SLC24A1_ENST00000546330.1_Frame_Shift_Ins_p.P283fs	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	283					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACAACCTGTTTCCCCCCAGAAG	0.505																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(844-849)ttccccfs		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1																																				SO:0001589	frameshift_variant	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65917264_65917265insC	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.852dupC	15.37:g.65917270_65917270dupC	ENSP00000261892:p.Pro283fs					SLC24A1_ENST00000339868.6_Frame_Shift_Ins_p.FP282fs|SLC24A1_ENST00000546330.1_Frame_Shift_Ins_p.FP282fs|SLC24A1_ENST00000544319.2_Frame_Shift_Ins_p.FP282fs|SLC24A1_ENST00000537259.1_Frame_Shift_Ins_p.FP282fs|SLC24A1_ENST00000399033.4_Frame_Shift_Ins_p.FP282fs	p.FP282fs	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	1133_1134	+			282					O43485|O75184|Q17RM9	Frame_Shift_Ins	INS	ENST00000261892.6	37	c.846_847insC	CCDS45284.1																																																																																				0.505	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		9	216						9	216	---	---	---	---
ANKRD34C-AS1	729911	broad.mit.edu	37	15	79529452	79529453	+	lincRNA	INS	-	-	G	rs528488597	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:79529452_79529453insG	ENST00000560533.1	-	0	349																											ATAATGAGGATGGGGGGATGAC	0.49																																						ENST00000560533.1																			0																																																			729911							g.chr15:79529452_79529453insG																													15.37:g.79529458_79529458dupG														0	349	-									RNA	INS	ENST00000560533.1	37																																																																																						0.490	RP11-17L5.4-007	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000417804.1			7	527						7	527	---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83328737	83328738	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:83328737_83328738insG	ENST00000261722.3	-	25	3167		c.e25-2		AP3B2_ENST00000535359.1_Splice_Site|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Splice_Site	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCAGCTTTCCTGGGGGTAGAGG	0.554																																						ENST00000261722.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.e25-2		adaptor-related protein complex 3, beta 2 subunit																																				SO:0001630	splice_region_variant	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83328737_83328738insG	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2960-2->C	15.37:g.83328742_83328742dupG						AP3B2_ENST00000535359.1_Splice_Site|AP3B2_ENST00000535348.1_Splice_Site|RP11-752G15.3_ENST00000560650.1_RNA		NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		25	3167	-								A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Splice_Site	INS	ENST00000261722.3	37		CCDS45331.1																																																																																				0.554	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1		Intron	7	1454						7	1454	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85400266	85400267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:85400266_85400267insA	ENST00000258888.5	+	6	3070_3071	c.2903_2904insA	c.(2902-2907)ccaaaafs	p.PK968fs		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	968					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTTGTTTCCCAAAAAAACCTG	0.54																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2902-2904)caafs		alpha-kinase 3																																				SO:0001589	frameshift_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400266_85400267insA	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2910dupA	15.37:g.85400273_85400273dupA	ENSP00000258888:p.Pro968fs						p.Q968fs	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3070_3071	+			968					Q9P2L6	Frame_Shift_Ins	INS	ENST00000258888.5	37	c.2903_2904insA	CCDS10333.1																																																																																				0.540	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		7	147						7	147	---	---	---	---
FURIN	5045	broad.mit.edu	37	15	91424578	91424579	+	Frame_Shift_Ins	INS	-	-	C	rs201334295		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:91424578_91424579insC	ENST00000268171.3	+	16	2134_2135	c.1855_1856insC	c.(1855-1857)gccfs	p.A619fs		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	619					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.Q621fs*8(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)			TCCAGGGTTCGCCCCCCAAGTC	0.634																																						ENST00000268171.3																			1	Insertion - Frameshift(1)	p.Q621fs*8(1)	large_intestine(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.(1855-1857)cccfs		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.chr15:91424578_91424579insC	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.1861dupC	15.37:g.91424584_91424584dupC	ENSP00000268171:p.Ala619fs						p.P619fs	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	Lung(145;0.189)		16	2134_2135	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		619			Cys-rich.		Q14336|Q6LBS3|Q9UCZ5	Frame_Shift_Ins	INS	ENST00000268171.3	37	c.1855_1856insC	CCDS10364.1																																																																																				0.634	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		8	340						8	340	---	---	---	---
FURIN	5045	broad.mit.edu	37	15	91424956	91424957	+	Frame_Shift_Ins	INS	-	-	G	rs35641241		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:91424956_91424957insG	ENST00000268171.3	+	16	2512_2513	c.2233_2234insG	c.(2233-2235)cggfs	p.R745fs	FES_ENST00000328850.3_5'Flank|FES_ENST00000414248.2_5'Flank|FES_ENST00000394302.1_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		13	673						13	673	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93540529	93540530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		10	373						10	373	---	---	---	---
LINS	55180	broad.mit.edu	37	15	101109855	101109856	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:101109855_101109856insG	ENST00000314742.8	-	7	2083_2084	c.1861_1862insC	c.(1861-1863)cggfs	p.R621fs	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	621								p.R621fs*13(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTGAGAGGCCCGGGGGGAAGAC	0.525																																						ENST00000314742.8																			1	Insertion - Frameshift(1)	p.R621fs*13(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						c.(1861-1863)ggcfs		lines homolog (Drosophila)																																				SO:0001589	frameshift_variant	55180							g.chr15:101109855_101109856insG	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1862dupC	15.37:g.101109861_101109861dupG	ENSP00000318423:p.Arg621fs						p.G621fs	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN			7	2083_2084	-			621					Q96FW2|Q9NVQ3	Frame_Shift_Ins	INS	ENST00000314742.8	37	c.1861_1862insC	CCDS10385.1																																																																																				0.525	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		7	755						7	755	---	---	---	---
ALDH1A3	220	broad.mit.edu	37	15	101438349	101438350	+	Frame_Shift_Ins	INS	-	-	G	rs142377552	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:101438349_101438350insG	ENST00000329841.5	+	8	1374_1375	c.842_843insG	c.(841-846)ctggggfs	p.LG281fs	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.LG174fs	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	281					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ACGCTGGAGCTGGGGGGGAAGA	0.569																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(841-843)cggfs		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)																																			SO:0001589	frameshift_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101438349_101438350insG	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.849dupG	15.37:g.101438356_101438356dupG	ENSP00000332256:p.Leu281fs					ALDH1A3_ENST00000346623.6_Frame_Shift_Ins_p.R174fs|RP11-66B24.4_ENST00000560351.1_RNA	p.R281fs	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		8	1374_1375	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		281					Q6NT64	Frame_Shift_Ins	INS	ENST00000329841.5	37	c.842_843insG	CCDS10389.1																																																																																				0.569	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			10	142						10	142	---	---	---	---
CHSY1	22856	broad.mit.edu	37	15	101775436	101775437	+	Frame_Shift_Ins	INS	-	-	C	rs74545602	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:101775436_101775437insC	ENST00000254190.3	-	2	1141_1142	c.666_667insG	c.(664-669)gggcctfs	p.P223fs		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	223					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACGCCAGGCCCCCCCATGC	0.614																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(664-669)ggctggfs		chondroitin sulfate synthase 1																																				SO:0001589	frameshift_variant	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101775436_101775437insC	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.667dupG	15.37:g.101775443_101775443dupC	ENSP00000254190:p.Pro223fs						p.W223fs	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	1141_1142	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		223					Q6UX38|Q7LFU5|Q9Y2J5	Frame_Shift_Ins	INS	ENST00000254190.3	37	c.666_667insG	CCDS10390.1																																																																																				0.614	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		27	387						27	387	---	---	---	---
OR4F6	390648	broad.mit.edu	37	15	102346204	102346205	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:102346204_102346205insG	ENST00000328882.4	+	1	303_304	c.282_283insG	c.(283-285)gggfs	p.G95fs		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CCATCTCTTTTGGGGGCTGTGT	0.455																																						ENST00000328882.4																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(280-285)ttggggfs		olfactory receptor, family 4, subfamily F, member 6																																				SO:0001589	frameshift_variant	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346204_102346205insG	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.287dupG	15.37:g.102346209_102346209dupG	ENSP00000327525:p.Gly95fs						p.LG94fs	NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	303_304	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		94					B9EH28|Q6IF95	Frame_Shift_Ins	INS	ENST00000328882.4	37	c.282_283insG	CCDS32341.1																																																																																				0.455	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			8	1123						8	1123	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81765	81766	+	RNA	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:81765_81766insC	ENST00000568710.1	-	0	434																											GGCAACCCCTGCCCCCCATGTC	0.564																																						ENST00000568710.1																			0																																																			729486							g.chr16:81765_81766insC																													16.37:g.81771_81771dupC														0	434	-									RNA	INS	ENST00000568710.1	37																																																																																						0.564	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			9	497						9	497	---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12162916	12162917	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:12162916_12162917insC	ENST00000566228.1	+	10	1315_1316	c.1246_1247insC	c.(1246-1248)gccfs	p.A416fs	SNX29_ENST00000306030.3_Frame_Shift_Ins_p.A31fs|SNX29_ENST00000323433.4_Frame_Shift_Ins_p.A31fs	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	416						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTGCACAGATGCCCCCCTCGGA	0.495																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(1246-1248)cccfs		sorting nexin 29																																				SO:0001589	frameshift_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12162916_12162917insC	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1252dupC	16.37:g.12162922_12162922dupC	ENSP00000456480:p.Ala416fs					SNX29_ENST00000306030.3_Frame_Shift_Ins_p.P31fs|SNX29_ENST00000323433.4_Frame_Shift_Ins_p.P31fs	p.P416fs	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			10	1315_1316	+			31					B5MDW2|Q8N2X2|Q9HA26	Frame_Shift_Ins	INS	ENST00000566228.1	37	c.1246_1247insC	CCDS10553.2																																																																																				0.495	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			9	785						9	785	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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			11	534						11	534	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs367747928|rs146499503		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)cccggcfs	p.G405fs	ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.G326fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.G405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1210-1215)ccgcacfs		acyl-CoA synthetase medium-chain family member 2B																																				SO:0001589	frameshift_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556547_20556548insG	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1213dupC	16.37:g.20556553_20556553dupG	ENSP00000327453:p.Gly405fs					ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs	p.H405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			10	1380_1381	-			405					Q86YT1	Frame_Shift_Ins	INS	ENST00000329697.6	37	c.1212_1213insC	CCDS10586.1																																																																																				0.515	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		7	329						7	329	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20976647	20976648	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:20976647_20976648insG	ENST00000261383.3	-	53	8557_8558	c.8558_8559insC	c.(8557-8559)ccafs	p.P2853fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2853	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGGTCAGTGGGGGGATGTT	0.46																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8557-8559)cctfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976647_20976648insG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8559dupC	16.37:g.20976653_20976653dupG	ENSP00000261383:p.Pro2853fs					DNAH3_ENST00000415178.1_3'UTR	p.P2853fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8557_8558	-			2853			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.8558_8559insC	CCDS10594.1																																																																																				0.460	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	554						7	554	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21063027	21063028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:21063027_21063028insG	ENST00000261383.3	-	29	4200_4201	c.4201_4202insC	c.(4201-4203)cggfs	p.R1401fs	DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.R1401fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1401	AAA 1. {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)		GATCACCAGCCGGGGGGAGTTT	0.569																																						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.(4201-4203)gctfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21063027_21063028insG	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.4202dupC	16.37:g.21063033_21063033dupG	ENSP00000261383:p.Arg1401fs					DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.A1401fs	p.A1401fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	29	4200_4201	-			1401			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.4201_4202insC	CCDS10594.1																																																																																				0.569	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		19	578						19	578	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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_ENST00000346932.5_Frame_Shift_Ins_p.N390fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.N460fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1507-1512)ccatgcfs		seizure related 6 homolog (mouse)-like 2																																				SO:0001589	frameshift_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29891248_29891249insG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1510dupC	16.37:g.29891254_29891254dupG	ENSP00000312550:p.Asn504fs					SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|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		9	774						9	774	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30531243	30531244	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:30531243_30531244insG	ENST00000356798.6	+	30	3474_3475	c.3294_3295insG	c.(3295-3297)gggfs	p.G1099fs	ITGAL_ENST00000433423.2_Frame_Shift_Ins_p.G333fs|ITGAL_ENST00000358164.5_Frame_Shift_Ins_p.G1015fs	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1099					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGAGCGGCATCGGGGGGCTGCT	0.599																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3292-3297)atggggfs		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)																																			SO:0001589	frameshift_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30531243_30531244insG		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3300dupG	16.37:g.30531249_30531249dupG	ENSP00000349252:p.Gly1099fs					ITGAL_ENST00000433423.2_Frame_Shift_Ins_p.MG332fs|ITGAL_ENST00000358164.5_Frame_Shift_Ins_p.MG1014fs	p.MG1098fs	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			30	3474_3475	+			1098					O43746|Q45H73|Q96HB1|Q9UBC8	Frame_Shift_Ins	INS	ENST00000356798.6	37	c.3294_3295insG	CCDS32433.1																																																																																				0.599	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			10	675						10	675	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3733-3735)gggfs	p.G1245fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1245	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3730-3735)gcggggfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30733909_30733910insG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3738dupG	16.37:g.30733915_30733915dupG	ENSP00000262518:p.Gly1245fs					SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron	p.AG1244fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		23	4117_4118	+			1244			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.3732_3733insG	CCDS10689.2																																																																																				0.614	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		15	1397						15	1397	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30977316	30977317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:30977316_30977317insC	ENST00000262519.8	+	8	2800_2801	c.2114_2115insC	c.(2113-2118)ggccccfs	p.GP705fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	705					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCTCAGCTGGCCCCCCCGGTG	0.644																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(2113-2115)gccfs		SET domain containing 1A				8,4238		0,8,2115						2.5	0.6			50	23,8211		0,23,4094	no	frameshift	SETD1A	NM_014712.1		0,31,6209	A1A1,A1R,RR		0.2793,0.1884,0.2484				31,12449				SO:0001589	frameshift_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977316_30977317insC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2121dupC	16.37:g.30977323_30977323dupC	ENSP00000262519:p.Gly705fs						p.A705fs	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			8	2800_2801	+			705					A6NP62|Q6PIF3|Q8TAJ6	Frame_Shift_Ins	INS	ENST00000262519.8	37	c.2114_2115insC	CCDS32435.1																																																																																				0.644	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		14	140						14	140	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422475	31422476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:31422475_31422476insC	ENST00000389202.2	+	13	1484_1485	c.1435_1436insC	c.(1435-1437)gccfs	p.A479fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	479					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCTCATTGGGGCCCCCCATTAC	0.649																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1435-1437)cccfs		integrin, alpha D																																				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422475_31422476insC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1441dupC	16.37:g.31422481_31422481dupC	ENSP00000373854:p.Ala479fs						p.P479fs	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			13	1484_1485	+			479					Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.1435_1436insC	CCDS32438.1																																																																																				0.649	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		7	715						7	715	---	---	---	---
CNGB1	1258	broad.mit.edu	37	16	57938727	57938728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:57938727_57938728insC	ENST00000251102.8	-	26	2604_2605	c.2544_2545insG	c.(2542-2547)gggctgfs	p.L849fs	CNGB1_ENST00000564448.1_Frame_Shift_Ins_p.L843fs	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	849					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|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)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGTCAGGCAGCCCCCCGATGG	0.51																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2524-2529)ggtgccfs		cyclic nucleotide gated channel beta 1				0,3628		0,0,1814						5.1	1.0			103	1,7895		0,1,3947	no	frameshift	CNGB1	NM_001297.4		0,1,5761	A1A1,A1R,RR		0.0127,0.0,0.0087				1,11523				SO:0001589	frameshift_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57938727_57938728insC	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2545dupG	16.37:g.57938733_57938733dupC	ENSP00000251102:p.Leu849fs					CNGB1_ENST00000251102.8_Frame_Shift_Ins_p.A849fs	p.A843fs			Q14028	CNGB1_HUMAN			26	2586_2587	-			849					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Frame_Shift_Ins	INS	ENST00000251102.8	37	c.2526_2527insG	CCDS42169.1																																																																																				0.510	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		9	192						9	192	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C	rs539297455	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		18	349						18	349	---	---	---	---
DPEP2	64174	broad.mit.edu	37	16	68021467	68021468	+	Frame_Shift_Ins	INS	-	-	G	rs1133090	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:68021467_68021468insG	ENST00000572888.1	-	10	2052_2053	c.1402_1403insC	c.(1402-1404)cacfs	p.H468fs	DPEP2_ENST00000412757.2_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	468			H -> D (in dbSNP:rs1133090).		arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGGGCCATGTGGGGGGAGGAC	0.545																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1402-1404)catfs		dipeptidase 2																																				SO:0001589	frameshift_variant	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68021467_68021468insG	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1403dupC	16.37:g.68021473_68021473dupG	ENSP00000458977:p.His468fs					DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs	p.H468fs			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	12	2067_2068	-		Ovarian(137;0.192)	468		H -> D (in dbSNP:rs1133090).			B2RCF8|Q6UX92|Q8TC95	Frame_Shift_Ins	INS	ENST00000572888.1	37	c.1402_1403insC	CCDS10857.1																																																																																				0.545	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		17	1237						17	1237	---	---	---	---
NFATC3	4775	broad.mit.edu	37	16	68225520	68225521	+	Frame_Shift_Ins	INS	-	-	G	rs545945545|rs191644387		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:68225520_68225521insG	ENST00000346183.3	+	9	2972_2973	c.2948_2949insG	c.(2947-2952)caggggfs	p.QG983fs	NFATC3_ENST00000349223.5_Frame_Shift_Ins_p.QG983fs|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Frame_Shift_Ins_p.QG983fs|NFATC3_ENST00000329524.4_Frame_Shift_Ins_p.QG983fs|SNORA48_ENST00000391143.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	983					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AGTACGGGCCAGGGGGGTCTTT	0.505																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(2947-2949)cggfs		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3																																				SO:0001589	frameshift_variant	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68225520_68225521insG	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2954dupG	16.37:g.68225526_68225526dupG	ENSP00000300659:p.Gln983fs					NFATC3_ENST00000346183.3_Frame_Shift_Ins_p.R983fs|NFATC3_ENST00000575270.1_Frame_Shift_Ins_p.R983fs|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Frame_Shift_Ins_p.R983fs	p.R983fs	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	9	3172_3173	+		Ovarian(137;0.0563)	983					O75211|Q14516|Q99840|Q99841|Q99842	Frame_Shift_Ins	INS	ENST00000346183.3	37	c.2948_2949insG	CCDS10860.1																																																																																				0.505	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		8	1235						8	1235	---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:74525008_74525009insC	ENST00000422840.2	-	8	1338_1339	c.1339_1340insG	c.(1339-1341)gagfs	p.E447fs	GLG1_ENST00000205061.5_Frame_Shift_Ins_p.E447fs|GLG1_ENST00000447066.2_Frame_Shift_Ins_p.E436fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	447					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTGTTCAATCTCCCCCCGACAG	0.515																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(1339-1341)gatfs		golgi glycoprotein 1																																				SO:0001589	frameshift_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74525008_74525009insC		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1340dupG	16.37:g.74525014_74525014dupC	ENSP00000405984:p.Glu447fs					GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs|GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs	p.D447fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			8	1338_1339	-			447					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Frame_Shift_Ins	INS	ENST00000422840.2	37	c.1339_1340insG	CCDS45527.1																																																																																				0.515	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		8	280						8	280	---	---	---	---
CFDP1	10428	broad.mit.edu	37	16	75446448	75446449	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:75446448_75446449insG	ENST00000283882.3	-	3	518_519	c.386_387insC	c.(385-387)ccafs	p.P129fs	CFDP1_ENST00000564286.1_5'UTR|RP11-77K12.1_ENST00000561887.1_5'Flank	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	129	Glu-rich.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						CTTGTGTACTTGGGGGCACTTT	0.455																																						ENST00000283882.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(385-387)cagfs		craniofacial development protein 1																																				SO:0001589	frameshift_variant	10428				multicellular organismal development			g.chr16:75446448_75446449insG	AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"""Bucentaur"", ""centromere protein 29"""	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.387dupC	16.37:g.75446453_75446453dupG	ENSP00000283882:p.Pro129fs					CFDP1_ENST00000564286.1_5'UTR	p.Q129fs	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN			3	518_519	-			129			Glu-rich.		O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Frame_Shift_Ins	INS	ENST00000283882.3	37	c.386_387insC	CCDS10916.1																																																																																				0.455	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269031.2	NM_006324		10	1500						10	1500	---	---	---	---
GLOD4	51031	broad.mit.edu	37	17	673668	673669	+	Frame_Shift_Ins	INS	-	-	G	rs148496651		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:673668_673669insG	ENST00000301328.5	-	7	690_691	c.667_668insC	c.(667-669)cagfs	p.Q223fs	GLOD4_ENST00000301329.6_Frame_Shift_Ins_p.Q208fs|GLOD4_ENST00000536578.1_Frame_Shift_Ins_p.Q199fs			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	223						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TACCTCTTTCTGGGGGCAAGAG	0.48																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(622-624)gaafs		glyoxalase domain containing 4																																				SO:0001589	frameshift_variant	51031					mitochondrion		g.chr17:673668_673669insG	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.668dupC	17.37:g.673673_673673dupG	ENSP00000301328:p.Gln223fs					GLOD4_ENST00000536578.1_Frame_Shift_Ins_p.E199fs|GLOD4_ENST00000301328.5_Frame_Shift_Ins_p.E223fs	p.E208fs	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	6	707_708	-			223					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Frame_Shift_Ins	INS	ENST00000301328.5	37	c.622_623insC																																																																																					0.480	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		9	1563						9	1563	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1562780	1562781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:1562780_1562781insC	ENST00000572621.1	-	31	5273_5274	c.5008_5009insG	c.(5008-5010)gacfs	p.D1670fs	PRPF8_ENST00000304992.6_Frame_Shift_Ins_p.D1670fs			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1670	Involved in interaction with pre-mRNA 5' splice site.|Restriction endonuclease homology domain.				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)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGAATCATAGTCCCCCCAGCGC	0.535																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5008-5010)ctafs		pre-mRNA processing factor 8																																				SO:0001589	frameshift_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1562780_1562781insC	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5009dupG	17.37:g.1562786_1562786dupC	ENSP00000460348:p.Asp1670fs					PRPF8_ENST00000304992.6_Frame_Shift_Ins_p.L1670fs	p.L1670fs			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	31	5273_5274	-			1670			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	Frame_Shift_Ins	INS	ENST00000572621.1	37	c.5008_5009insG	CCDS11010.1																																																																																				0.535	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			11	1615						11	1615	---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)tggfs	p.W361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.53								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1081-1083)gggfs	Nucleotide excision repair (NER)	replication protein A1, 70kDa																																				SO:0001589	frameshift_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782982_1782983insG	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1087dupG	17.37:g.1782988_1782988dupG	ENSP00000254719:p.Trp361fs						p.G361fs	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			11	1191_1192	+			361					A8K0Y9|Q59ES9	Frame_Shift_Ins	INS	ENST00000254719.5	37	c.1081_1082insG	CCDS11014.1																																																																																				0.530	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		8	749						8	749	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201|rs113994200		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1045-1047)gggfs	p.G349fs	PAFAH1B1_ENST00000572915.2_Intron|RN7SL608P_ENST00000492377.2_RNA|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.G144fs	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1042-1047)tcggggfs		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)																																				SO:0001589	frameshift_variant	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2583499_2583500insG	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1050dupG	17.37:g.2583505_2583505dupG	ENSP00000380378:p.Gly349fs					PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	p.SG348fs	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			10	1495_1496	+			348			Interaction with dynein and dynactin.			Frame_Shift_Ins	INS	ENST00000397195.5	37	c.1044_1045insG	CCDS32528.1																																																																																				0.401	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		9	666						9	666	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3716453	3716454	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:3716453_3716454insC	ENST00000389005.4	-	13	1774_1775	c.1747_1748insG	c.(1747-1749)gctfs	p.A583fs	C17orf85_ENST00000158149.3_Frame_Shift_Ins_p.A303fs	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	583							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A303fs*2(1)		endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		CTTAATCAGAGCCCCCCATGCC	0.505																																						ENST00000158149.3																			1	Deletion - Frameshift(1)	p.A303fs*2(1)	large_intestine(1)	endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(907-909)tctfs		chromosome 17 open reading frame 85																																				SO:0001589	frameshift_variant	55421						nucleotide binding	g.chr17:3716453_3716454insC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1748dupG	17.37:g.3716459_3716459dupC	ENSP00000373657:p.Ala583fs					C17orf85_ENST00000389005.4_Frame_Shift_Ins_p.S583fs	p.S303fs			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	14	1802_1803	-			583					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Frame_Shift_Ins	INS	ENST00000389005.4	37	c.907_908insG	CCDS45578.1																																																																																				0.505	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		7	495						7	495	---	---	---	---
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1645-1647)cccfs	p.P549fs	ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.P549fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.P510fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.P510fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	549					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(1642-1647)ctccccfs		zinc finger, MYND-type containing 15																																				SO:0001589	frameshift_variant	84225						zinc ion binding	g.chr17:4647723_4647724insC	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1650dupC	17.37:g.4647729_4647729dupC	ENSP00000391742:p.Pro549fs					ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs	p.LP548fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			10	1701_1702	+			509					B4DXY5|I3L296	Frame_Shift_Ins	INS	ENST00000433935.1	37	c.1644_1645insC	CCDS45584.1																																																																																				0.594	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		10	232						10	232	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:4884523_4884524insC	ENST00000348066.3	-	8	819_820	c.696_697insG	c.(694-699)gggcttfs	p.L233fs	CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.L233fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.L235fs|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.L232fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.L256fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.L238fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACTTACCAAGCCCCCCACTGC	0.55											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(691-696)ggttggfs		calmodulin binding transcription activator 2																																				SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4884523_4884524insC	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.697dupG	17.37:g.4884529_4884529dupC	ENSP00000321813:p.Leu233fs		OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs	p.W232fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			7	1104_1105	-			233					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.693_694insG	CCDS11063.1																																																																																				0.550	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		8	598						8	598	---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	6012978	6012979	+	Frame_Shift_Ins	INS	-	-	C	rs41314099	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:6012978_6012979insC	ENST00000574946.1	+	6	1291_1292	c.901_902insC	c.(901-903)accfs	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|WSCD1_ENST00000317744.5_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_ENST00000317744.5_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000574232.1_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		10	1855						10	1855	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)gccfs	p.A298fs	AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		A -> T.		aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(892-894)cccfs		arachidonate 12-lipoxygenase																																				SO:0001589	frameshift_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6903739_6903740insC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.898dupC	17.37:g.6903745_6903745dupC	ENSP00000251535:p.Ala298fs					AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron	p.P298fs	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			7	945_946	+			298		A -> T.	Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Ins	INS	ENST00000251535.6	37	c.892_893insC	CCDS11084.1																																																																																				0.554	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			14	1201						14	1201	---	---	---	---
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C	rs534765323		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000574401.1_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 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_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs	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			11	256						11	256	---	---	---	---
FGF11	2256	broad.mit.edu	37	17	7343098	7343099	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:7343098_7343099insG	ENST00000293829.4	+	1	753_754	c.159_160insG	c.(160-162)gggfs	p.G54fs	FGF11_ENST00000572907.1_5'Flank|FGF11_ENST00000575082.1_5'Flank|FGF11_ENST00000575398.1_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_Intron|RP11-104H15.9_ENST00000570444.1_RNA	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	54					cell-cell signaling (GO:0007267)|nervous system development (GO:0007399)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				TGCGACTGTgcggggggcggcc	0.738																																						ENST00000293829.4																			0				central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6						c.(157-162)tgggggfs		fibroblast growth factor 11																																				SO:0001589	frameshift_variant	2256				cell-cell signaling|nervous system development|signal transduction		growth factor activity	g.chr17:7343098_7343099insG		CCDS11105.1	17p13.1	2008-07-18			ENSG00000161958	ENSG00000161958			3667	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 3"""	601514				8790420	Standard	NM_004112		Approved	FHF3, FLJ16061, MGC45269, MGC102953	uc002ggz.3	Q92914	OTTHUMG00000108136	ENST00000293829.4:c.165dupG	17.37:g.7343104_7343104dupG	ENSP00000293829:p.Gly54fs					FGF11_ENST00000575235.1_Intron|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575331.1_5'UTR|RP11-104H15.7_ENST00000575310.1_RNA	p.WG53fs	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN			1	753_754	+		Prostate(122;0.157)	53					Q2YDX8	Frame_Shift_Ins	INS	ENST00000293829.4	37	c.159_160insG	CCDS11105.1																																																																																				0.738	FGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226939.3	NM_004112		2	4						2	4	---	---	---	---
SLC35G6	643664	broad.mit.edu	37	17	7386029	7386030	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:7386029_7386030insC	ENST00000412468.2	+	2	841_842	c.726_727insC	c.(727-729)cccfs	p.P243fs	ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	243						integral component of membrane (GO:0016021)		p.P243S(1)									TTGTGCTGCAGCCCCCCGTGTT	0.599																																						ENST00000412468.2																			1	Substitution - Missense(1)	p.P243S(1)	large_intestine(1)								c.(724-729)caccccfs		solute carrier family 35, member G6																																				SO:0001589	frameshift_variant	643664					integral to membrane		g.chr17:7386029_7386030insC		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.732dupC	17.37:g.7386035_7386035dupC	ENSP00000396523:p.Pro243fs					ZBTB4_ENST00000311403.4_Intron	p.HP242fs	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN			2	841_842	+			242						Frame_Shift_Ins	INS	ENST00000412468.2	37	c.726_727insC	CCDS45603.1																																																																																				0.599	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		7	290						7	290	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7573943	7573944	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:7573943_7573944insC	ENST00000269305.4	-	10	1272_1273	c.1083_1084insG	c.(1081-1086)gggagcfs	p.S362fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.S362fs|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	362	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with USP7.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.I332fs*5(1)|p.G361fs*8(1)|p.?(1)|p.S362fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGAGCCCTGCTCCCCCCTGGCT	0.594		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		12	Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	p.0?(8)|p.I332fs*5(1)|p.G361fs*8(1)|p.?(1)|p.S362fs*8(1)	bone(4)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(1081-1086)gggcagfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7573943_7573944insC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1084dupG	17.37:g.7573949_7573949dupC	ENSP00000269305:p.Ser362fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q362fs	p.Q362fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1272_1273	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	362			Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with USP7.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.1083_1084insG	CCDS11118.1																																																																																				0.594	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	215						8	215	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579470	7579471	+	Frame_Shift_Ins	INS	-	-	G	rs56275308|rs587782423		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:7579470_7579471insG	ENST00000269305.4	-	4	405_406	c.216_217insC	c.(214-219)cccgtgfs	p.V73fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.V73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V73fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Ins_p.V73fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	73	Interaction with HRMT1L2.|Interaction with WWOX.		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGGGGCCACGGGGGGAGCAG	0.604		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		37	Insertion - Frameshift(11)|Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(5)|Complex - frameshift(3)|Deletion - In frame(1)	p.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)	upper_aerodigestive_tract(6)|lung(6)|breast(4)|bone(4)|central_nervous_system(3)|biliary_tract(3)|urinary_tract(3)|large_intestine(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)|prostate(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CI920954	TP53	I		c.(214-219)cctggcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579470_7579471insG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.217dupC	17.37:g.7579476_7579476dupG	ENSP00000269305:p.Val73fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G73fs	p.G73fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	348_349	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	73		V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with HRMT1L2.|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.216_217insC	CCDS11118.1																																																																																				0.604	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	742						10	742	---	---	---	---
WRAP53	55135	broad.mit.edu	37	17	7606714	7606715	+	Frame_Shift_Ins	INS	-	-	G	rs146634933	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:7606714_7606715insG	ENST00000316024.5	+	10	3905_3906	c.1557_1558insG	c.(1558-1560)gggfs	p.G520fs	WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.G520fs|WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.G520fs|EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.G487fs|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.G520fs			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	520					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCTGGTGGTGTGGGGGGGCGCC	0.599																																						ENST00000316024.5																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						c.(1555-1560)tgggggfs		WD repeat containing, antisense to TP53																																				SO:0001589	frameshift_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7606714_7606715insG	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1564dupG	17.37:g.7606721_7606721dupG	ENSP00000324203:p.Gly520fs					WRAP53_ENST00000431639.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000396463.2_Frame_Shift_Ins_p.WG519fs|WRAP53_ENST00000534050.1_Frame_Shift_Ins_p.WG486fs|WRAP53_ENST00000457584.2_Frame_Shift_Ins_p.WG519fs	p.WG519fs			Q9BUR4	WAP53_HUMAN			10	3905_3906	+			519					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Frame_Shift_Ins	INS	ENST00000316024.5	37	c.1557_1558insG	CCDS11119.1																																																																																				0.599	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		11	135						11	135	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C	rs532773147	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(985-987)cccfs	p.P329fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	329					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(982-987)ggccccfs		ephrin-B3																																				SO:0001589	frameshift_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612855_7612856insC	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.991dupC	17.37:g.7612862_7612862dupC	ENSP00000226091:p.Pro329fs						p.GP328fs	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			5	1381_1382	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	328					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Ins	INS	ENST00000226091.2	37	c.984_985insC	CCDS11120.1																																																																																				0.574	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		13	335						13	335	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:7798764_7798765insC	ENST00000330494.7	+	10	1761_1762	c.1611_1612insC	c.(1612-1614)cccfs	p.P538fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.P538fs|CHD3_ENST00000380358.4_Frame_Shift_Ins_p.P597fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	538	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1786-1791)ccccccfs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7798764_7798765insC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1618dupC	17.37:g.7798771_7798771dupC	ENSP00000332628:p.Pro538fs					CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs	p.PP596fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			10	1789_1790	+		Prostate(122;0.202)	537					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.1788_1789insC	CCDS32554.1																																																																																				0.574	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		30	490						30	490	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7852808	7852809	+	Frame_Shift_Ins	INS	-	-	G	rs35508310		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:7852808_7852809insG	ENST00000563694.1	+	19	3617_3618	c.2692_2693insG	c.(2692-2694)cggfs	p.R898fs	CNTROB_ENST00000565740.1_Frame_Shift_Ins_p.R899fs|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000380262.3_Frame_Shift_Ins_p.R920fs	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	898	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CATGAGGAGCCGGGGGGGAGTC	0.55																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2758-2760)gggfs		centrobin, centrosomal BRCA2 interacting protein																																				SO:0001589	frameshift_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7852808_7852809insG	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2699dupG	17.37:g.7852815_7852815dupG	ENSP00000456335:p.Arg898fs					CNTROB_ENST00000563694.1_Frame_Shift_Ins_p.G898fs|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Frame_Shift_Ins_p.G899fs	p.G920fs	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			19	3683_3684	+		Prostate(122;0.173)	898					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Frame_Shift_Ins	INS	ENST00000563694.1	37	c.2758_2759insG	CCDS11126.1																																																																																				0.550	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		7	168						7	168	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8218831	8218832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:8218831_8218832insC	ENST00000361926.3	+	7	1470_1471	c.1360_1361insC	c.(1360-1362)accfs	p.T454fs	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.T454fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	454	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGACACGCTCACCCCCCGTGAT	0.629																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1360-1362)cccfs		Rho guanine nucleotide exchange factor (GEF) 15																																				SO:0001589	frameshift_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8218831_8218832insC	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1366dupC	17.37:g.8218837_8218837dupC	ENSP00000355026:p.Thr454fs					ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P454fs	p.P454fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			7	1470_1471	+			454			DH.		A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	ENST00000361926.3	37	c.1360_1361insC	CCDS11139.1																																																																																				0.629	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		9	888						9	888	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:8222137_8222138insG	ENST00000361926.3	+	12	2052_2053	c.1942_1943insG	c.(1942-1944)aggfs	p.R648fs	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.R648fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	648					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGGGTGCCGGAGGGGGGGCGTG	0.634																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1942-1944)gggfs		Rho guanine nucleotide exchange factor (GEF) 15																																				SO:0001589	frameshift_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8222137_8222138insG	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1949dupG	17.37:g.8222144_8222144dupG	ENSP00000355026:p.Arg648fs					ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs	p.G648fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			12	2052_2053	+			648					A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	ENST00000361926.3	37	c.1942_1943insG	CCDS11139.1																																																																																				0.634	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		27	586						27	586	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8224297	8224298	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:8224297_8224298insC	ENST00000361926.3	+	16	2622_2623	c.2512_2513insC	c.(2512-2514)gccfs	p.A838fs	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.A838fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	838					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCCCAATGCCCCCCCACCC	0.574																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(2512-2514)cccfs		Rho guanine nucleotide exchange factor (GEF) 15																																				SO:0001589	frameshift_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8224297_8224298insC	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2519dupC	17.37:g.8224304_8224304dupC	ENSP00000355026:p.Ala838fs					ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P838fs	p.P838fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			16	2622_2623	+			838					A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	ENST00000361926.3	37	c.2512_2513insC	CCDS11139.1																																																																																				0.574	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		16	212						16	212	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10419785	10419786	+	Frame_Shift_Ins	INS	-	-	C	rs147810417		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:10419785_10419786insC	ENST00000226207.5	-	3	268_269	c.174_175insG	c.(172-177)gggaagfs	p.K59fs	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	59					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTGTCACCTTCCCCCCTTCCC	0.475																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(172-177)ggaggtfs		myosin, heavy chain 1, skeletal muscle, adult																																				SO:0001589	frameshift_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419785_10419786insC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.175dupG	17.37:g.10419791_10419791dupC	ENSP00000226207:p.Lys59fs					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.G59fs	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			3	268_269	-			59			Myosin head-like.		Q14CA4|Q9Y622	Frame_Shift_Ins	INS	ENST00000226207.5	37	c.174_175insG	CCDS11155.1																																																																																				0.475	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		9	1134						9	1134	---	---	---	---
TMEM220-AS1	101101775	broad.mit.edu	37	17	10642553	10642560	+	RNA	DEL	CCTTCCTT	CCTTCCTT	-	rs139378762		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:10642553_10642560delCCTTCCTT	ENST00000583343.1	+	0	144				CTC-297N7.5_ENST00000581366.1_RNA|CTC-297N7.5_ENST00000580899.1_RNA|CTC-297N7.5_ENST00000584714.1_RNA|CTC-297N7.5_ENST00000583115.1_RNA|CTC-297N7.9_ENST00000579529.2_lincRNA|CTC-297N7.5_ENST00000583012.1_RNA|CTC-297N7.5_ENST00000579114.1_RNA																							cttcccttccccttccttccttccttcc	0.591																																						ENST00000583343.1																			0																																																			101101775							g.chr17:10642553_10642560delCCTTCCTT																													17.37:g.10642561_10642568delCCTTCCTT						CTC-297N7.5_ENST00000583012.1_RNA|TMEM220-AS1_ENST00000580899.1_RNA|CTC-297N7.5_ENST00000581366.1_RNA|CTC-297N7.5_ENST00000584714.1_RNA|CTC-297N7.5_ENST00000579114.1_RNA								0	144	+									RNA	DEL	ENST00000583343.1	37																																																																																						0.591	CTC-297N7.5-004	KNOWN	basic	antisense	antisense	OTTHUMT00000441072.1			2	4						2	4	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11687648	11687649	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:11687648_11687649insG	ENST00000262442.4	+	41	7921_7922	c.7853_7854insG	c.(7852-7857)ccggggfs	p.PG2618fs	DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.PG2618fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2618	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P2618P(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCTCCTTCCCGGGGGCAGATG	0.53																																						ENST00000262442.3																			1	Substitution - coding silent(1)	p.P2618P(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7852-7854)cggfs		dynein, axonemal, heavy chain 9																																				SO:0001589	frameshift_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687648_11687649insG	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7858dupG	17.37:g.11687653_11687653dupG	ENSP00000262442:p.Pro2618fs					DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.R2618fs	p.R2618fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	7921_7922	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2618			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Ins	INS	ENST00000262442.4	37	c.7853_7854insG	CCDS11160.1																																																																																				0.530	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		8	720						8	720	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12655969	12655970	+	Frame_Shift_Ins	INS	-	-	C	rs201880384		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:12655969_12655970insC	ENST00000343344.4	+	10	1364_1365	c.1364_1365insC	c.(1363-1368)agccccfs	p.SP455fs	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Frame_Shift_Ins_p.SP455fs|AC005358.1_ENST00000609971.1_Frame_Shift_Ins_p.SP359fs			Q8IZQ8	MYCD_HUMAN	myocardin	455	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCAGCTCCAGCCCCCCGATCT	0.614																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1363-1365)accfs		myocardin																																				SO:0001589	frameshift_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655969_12655970insC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1370dupC	17.37:g.12655975_12655975dupC	ENSP00000341835:p.Ser455fs					MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.T359fs|MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.T455fs	p.T455fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1564_1565	+			455			Ser-rich.		Q5UBU5|Q8N7Q1	Frame_Shift_Ins	INS	ENST00000343344.4	37	c.1364_1365insC	CCDS11163.1																																																																																				0.614	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		8	444						8	444	---	---	---	---
TRIM16L	147166	broad.mit.edu	37	17	18638351	18638351	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:18638351delT	ENST00000449552.2	+	7	2109	c.625delT	c.(625-627)tacfs	p.Y209fs	TRIM16L_ENST00000395671.4_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000571708.1_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000572555.1_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000414850.2_Frame_Shift_Del_p.C121fs|TRIM16L_ENST00000395672.2_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000395902.3_Frame_Shift_Del_p.Y263fs			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	209	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GCAGAGTCTGTACCTGCACAG	0.612																																						ENST00000449552.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(625-627)acfs		tripartite motif containing 16-like							26.0	25.0	25.0					17																	18638351		2202	4279	6481	SO:0001589	frameshift_variant	147166					cytoplasm		g.chr17:18638351delT	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.625delT	17.37:g.18638351delT	ENSP00000461386:p.Tyr209fs					TRIM16L_ENST00000572555.1_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000395672.2_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000571708.1_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000414850.2_Frame_Shift_Del_p.C121fs|TRIM16L_ENST00000395671.4_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000395902.3_Frame_Shift_Del_p.Y263fs	p.Y209fs			Q309B1	TR16L_HUMAN			7	2109	+			209			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Frame_Shift_Del	DEL	ENST00000449552.2	37	c.625delT	CCDS32588.1																																																																																				0.612	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		8	87						8	87	---	---	---	---
UBBP4	23666	broad.mit.edu	37	17	21731033	21731034	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:21731033_21731034insC	ENST00000578713.1	+	1	339_340	c.335_336insC	c.(334-339)atccccfs	p.IP112fs	UBBP4_ENST00000584755.1_Frame_Shift_Ins_p.IP112fs|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAAGAAGGCATCCCCCCCGACC	0.54																																						ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(334-336)accfs																																						SO:0001589	frameshift_variant	23666							g.chr17:21731033_21731034insC	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.342dupC	17.37:g.21731040_21731040dupC	ENSP00000464265:p.Ile112fs					UBBP4_ENST00000578713.1_Frame_Shift_Ins_p.T112fs|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR	p.T112fs							2	732_733	+									Frame_Shift_Ins	INS	ENST00000578713.1	37	c.335_336insC																																																																																					0.540	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			7	96						7	96	---	---	---	---
PHF12	57649	broad.mit.edu	37	17	27233908	27233909	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		8	231						8	231	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs562474149|rs35554312	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cccatgfs	p.M625fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.M652fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.47																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1870-1875)cctgtcfs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963294_27963295insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1873dupC	17.37:g.27963301_27963301dupG	ENSP00000269033:p.Met625fs					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	p.V625fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	2023_2024	-			625					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.1872_1873insC	CCDS11253.1																																																																																				0.470	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		14	217						14	217	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:31439004_31439005insC	ENST00000359872.6	-	2	1397_1398	c.636_637insG	c.(634-639)gggacafs	p.T213fs	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Frame_Shift_Ins_p.T264fs|RP11-40A13.1_ENST00000584688.1_RNA	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|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs|RP11-40A13.1_ENST00000584688.1_RNA	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		9	221						9	221	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35487100	35487101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:35487100_35487101insC	ENST00000394406.2	-	46	5802_5803	c.5612_5613insG	c.(5611-5613)ggcfs	p.G1871fs	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000353139.5_Frame_Shift_Ins_p.G1908fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.G1793fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.G1813fs	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_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.D1871fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.D1813fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.D1793fs	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		12	580						12	580	---	---	---	---
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)cagfs	p.Q521fs	HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.Q495fs|HNF1B_ENST00000427275.2_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1561-1563)gtafs		HNF1 homeobox B																																				SO:0001589	frameshift_variant	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36059173_36059174insG	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1562dupC	17.37:g.36059180_36059180dupG	ENSP00000225893:p.Gln521fs					HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000427275.2_Intron	p.V521fs	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		8	1922_1923	-		Breast(25;0.00765)|Ovarian(249;0.15)	521					B4DKM3|E0YMJ9	Frame_Shift_Ins	INS	ENST00000225893.4	37	c.1561_1562insC	CCDS11324.1																																																																																				0.515	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		9	138						9	138	---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36868997	36868998	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:36868997_36868998insC	ENST00000325718.7	+	8	865_866	c.774_775insC	c.(775-777)cccfs	p.P259fs	MLLT6_ENST00000378137.5_Frame_Shift_Ins_p.P259fs|CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	259					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGCCTGAGTCGCCCCCCAGCAT	0.614			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(772-777)tcccccfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6																																				SO:0001589	frameshift_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36868997_36868998insC		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.780dupC	17.37:g.36869003_36869003dupC	ENSP00000316426:p.Pro259fs					MLLT6_ENST00000378137.5_Frame_Shift_Ins_p.SP258fs	p.SP258fs	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			8	865_866	+	Breast(7;4.43e-21)		258					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Frame_Shift_Ins	INS	ENST00000325718.7	37	c.774_775insC	CCDS11327.1																																																																																				0.614	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		7	246						7	246	---	---	---	---
PCGF2	7703	broad.mit.edu	37	17	36896586	36896587	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:36896586_36896587insC	ENST00000580830.1	-	4	770_771	c.69_70insG	c.(67-72)gggtacfs	p.Y24fs	PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.Y24fs|PCGF2_ENST00000578109.1_Intron			P35227	PCGF2_HUMAN	polycomb group ring finger 2	24					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCGATGAAGTACCCCCCGCAGA	0.629																																						ENST00000580830.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(67-72)ggacttfs		polycomb group ring finger 2																																				SO:0001589	frameshift_variant	7703				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36896586_36896587insC	D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.70dupG	17.37:g.36896592_36896592dupC	ENSP00000461961:p.Tyr24fs					PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.L24fs	p.L24fs			P35227	PCGF2_HUMAN			4	770_771	-	Breast(7;9.07e-22)		24					A6NGD8	Frame_Shift_Ins	INS	ENST00000580830.1	37	c.69_70insG	CCDS32638.1																																																																																				0.629	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	NM_007144		14	498						14	498	---	---	---	---
RPL23	9349	broad.mit.edu	37	17	37008858	37008859	+	Splice_Site	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:37008858_37008859insT	ENST00000479035.2	-	3	356_357	c.224_225insA	c.(223-225)aag>aaAg	p.K75fs	RPL23_ENST00000577407.1_Splice_Site_p.K75fs|RPL23_ENST00000245857.5_Splice_Site_p.K16fs|RPL23_ENST00000394332.1_Splice_Site_p.K75fs|SNORA21_ENST00000362423.1_RNA|RPL23_ENST00000394333.1_Splice_Site_p.K75fs|SNORA21_ENST00000516890.1_RNA	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	75					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal protein import into nucleus (GO:0006610)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						TTTACTCACCCTTTTTTCTGAG	0.485																																						ENST00000479035.2																			0				endometrium(2)|large_intestine(1)	3						c.e3+1		ribosomal protein L23																																				SO:0001630	splice_region_variant	9349				endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr17:37008858_37008859insT	X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"""L ribosomal proteins"""	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.226+1->A	17.37:g.37008864_37008864dupT						RPL23_ENST00000394333.1_Splice_Site_p.S75_splice|RPL23_ENST00000394332.1_Splice_Site_p.S75_splice|RPL23_ENST00000245857.5_Splice_Site_p.S16_splice|RPL23_ENST00000577407.1_Splice_Site_p.S75_splice	p.S75_splice	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN			3	356_357	-			75					P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Splice_Site	INS	ENST00000479035.2	37	c.226_splice	CCDS11330.1																																																																																				0.485	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256785.3	NM_000978	Frame_Shift_Ins	7	619						7	619	---	---	---	---
STAC2	342667	broad.mit.edu	37	17	37373352	37373353	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:37373352_37373353insA	ENST00000333461.5	-	3	840_841	c.471_472insT	c.(469-474)tcccacfs	p.H158fs		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	158					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CATTGCTGGTGGGAGATCTCCT	0.55																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(469-474)tcaccafs		SH3 and cysteine rich domain 2																																				SO:0001589	frameshift_variant	342667				intracellular signal transduction		metal ion binding	g.chr17:37373352_37373353insA	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.471_472insT	17.37:g.37373352_37373353insA	ENSP00000327509:p.His158fs						p.P158fs	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			3	840_841	-			158					Q32MA3	Frame_Shift_Ins	INS	ENST00000333461.5	37	c.471_472insT	CCDS11335.1																																																																																				0.550	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		12	120						12	120	---	---	---	---
SMARCE1	6605	broad.mit.edu	37	17	38787144	38787145	+	In_Frame_Ins	INS	-	-	ACT			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:38787144_38787145insACT	ENST00000348513.6	-	10	1628_1629	c.848_849insAGT	c.(847-849)gag>gaAGTg	p.283_284insV	SMARCE1_ENST00000400122.3_In_Frame_Ins_p.213_214insV|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_In_Frame_Ins_p.248_249insV|SMARCE1_ENST00000544009.1_In_Frame_Ins_p.213_214insV|SMARCE1_ENST00000578044.1_In_Frame_Ins_p.213_214insV|SMARCE1_ENST00000377808.4_In_Frame_Ins_p.248_249insV|SMARCE1_ENST00000431889.2_In_Frame_Ins_p.265_266insV	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	283					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				CTGCAATTTTCTCCATATCCAC	0.45																																						ENST00000348513.6																			0				large_intestine(1)	1						c.(847-849)gaa>gAGTaa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1																																				SO:0001652	inframe_insertion	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38787144_38787145insACT	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.848_849insAGT	17.37:g.38787144_38787145insACT	ENSP00000323967:p.Glu283_Lys284insVal					KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_In_Frame_Ins_p.248_249ins*|SMARCE1_ENST00000544009.1_In_Frame_Ins_p.213_214ins*|SMARCE1_ENST00000578044.1_In_Frame_Ins_p.213_214ins*|SMARCE1_ENST00000400122.3_In_Frame_Ins_p.213_214ins*|SMARCE1_ENST00000377808.4_In_Frame_Ins_p.248_249ins*|SMARCE1_ENST00000431889.2_In_Frame_Ins_p.265_266ins*	p.283_284ins*	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			10	1628_1629	-		Breast(137;0.000812)	283					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	In_Frame_Ins	INS	ENST00000348513.6	37	c.848_849insAGT	CCDS11370.1																																																																																				0.450	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		10	189						10	189	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		10	128						10	128	---	---	---	---
STAT5A	6776	broad.mit.edu	37	17	40453398	40453399	+	Frame_Shift_Ins	INS	-	-	C	rs146398782	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:40453398_40453399insC	ENST00000345506.4	+	10	1737_1738	c.1095_1096insC	c.(1096-1098)cccfs	p.P366fs	STAT5A_ENST00000590949.1_Frame_Shift_Ins_p.P366fs|STAT5A_ENST00000588868.1_Frame_Shift_Ins_p.P366fs|STAT5A_ENST00000452307.2_Frame_Shift_Ins_p.P366fs|STAT5A_ENST00000546010.2_Frame_Shift_Ins_p.P336fs	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	366					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGCACATGAATCCCCCCCAGGT	0.564																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1093-1098)aaccccfs		signal transducer and activator of transcription 5A																																				SO:0001589	frameshift_variant	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40453398_40453399insC	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1102dupC	17.37:g.40453405_40453405dupC	ENSP00000341208:p.Pro366fs					STAT5A_ENST00000590949.1_Frame_Shift_Ins_p.NP365fs|STAT5A_ENST00000546010.2_Frame_Shift_Ins_p.NP335fs|STAT5A_ENST00000452307.2_Frame_Shift_Ins_p.NP365fs|STAT5A_ENST00000588868.1_Frame_Shift_Ins_p.NP365fs	p.NP365fs	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	10	1737_1738	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	365					Q1KLZ6	Frame_Shift_Ins	INS	ENST00000345506.4	37	c.1095_1096insC	CCDS11424.1																																																																																				0.564	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		13	394						13	394	---	---	---	---
ARL4D	379	broad.mit.edu	37	17	41477331	41477332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:41477331_41477332insG	ENST00000320033.4	+	2	438_439	c.231_232insG	c.(232-234)gggfs	p.G78fs		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	78					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TGTGGGACGTCGGGGGGCAGGA	0.629																																						ENST00000320033.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(229-234)gtggggfs		ADP-ribosylation factor-like 4D																																				SO:0001589	frameshift_variant	379				protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:41477331_41477332insG	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	656	protein-coding gene	gene with protein product		600732	"""ADP-ribosylation factor 4-like"""	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.237dupG	17.37:g.41477337_41477337dupG	ENSP00000322628:p.Gly78fs						p.VG77fs	NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	2	438_439	+		Breast(137;0.00908)	77					B2RC59|D3DX43	Frame_Shift_Ins	INS	ENST00000320033.4	37	c.231_232insG	CCDS11463.1																																																																																				0.629	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	NM_001661		17	502						17	502	---	---	---	---
ETV4	2118	broad.mit.edu	37	17	41610700	41610701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:41610700_41610701insG	ENST00000319349.5	-	7	697_698	c.399_400insC	c.(397-402)cccagafs	p.R134fs	ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.R134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.R95fs|ETV4_ENST00000538265.1_Frame_Shift_Ins_p.R95fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.R134fs|ETV4_ENST00000545089.1_Intron	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	134					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""		"""Ewing sarcoma, Prostate carcinoma"""	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(397-402)ccgacafs		ets variant 4																																				SO:0001589	frameshift_variant	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41610700_41610701insG	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.400dupC	17.37:g.41610707_41610707dupG	ENSP00000321835:p.Arg134fs					ETV4_ENST00000538265.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000545089.1_Intron|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.T134fs	p.T134fs	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	7	697_698	-		Breast(137;0.00908)	134					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Frame_Shift_Ins	INS	ENST00000319349.5	37	c.399_400insC	CCDS11465.1																																																																																				0.579	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		8	73						8	73	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42478248	42478249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:42478248_42478249insG	ENST00000591680.1	-	8	1226_1227	c.1196_1197insC	c.(1195-1197)ccafs	p.P399fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.P321fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	399							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCAGTGTGCTGGGGGGATGTA	0.441											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(961-963)cgcfs		G patch domain containing 8																																				SO:0001589	frameshift_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478248_42478249insG	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1197dupC	17.37:g.42478254_42478254dupG	ENSP00000467556:p.Pro399fs		OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.R399fs	p.R321fs			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	1244_1245	-		Prostate(33;0.0181)	399					B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	ENST00000591680.1	37	c.962_963insC	CCDS32666.1																																																																																				0.441	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		8	396						8	396	---	---	---	---
OSBPL7	114881	broad.mit.edu	37	17	45886342	45886343	+	Frame_Shift_Ins	INS	-	-	G	rs143462261		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:45886342_45886343insG	ENST00000007414.3	-	21	2375_2376	c.2184_2185insC	c.(2182-2187)cccgacfs	p.D729fs	OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.D729fs	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	729					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.D729fs*3(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTCATGGTCGGGGGGCATTG	0.619																																						ENST00000007414.3																			1	Insertion - Frameshift(1)	p.D729fs*3(1)	lung(1)	autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2182-2187)ccaccafs		oxysterol binding protein-like 7																																				SO:0001589	frameshift_variant	114881				lipid transport		lipid binding	g.chr17:45886342_45886343insG	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2185dupC	17.37:g.45886348_45886348dupG	ENSP00000007414:p.Asp729fs					OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs	p.P729fs	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN			21	2375_2376	-			729					D3DTT6|Q6PIV6	Frame_Shift_Ins	INS	ENST00000007414.3	37	c.2184_2185insC	CCDS11515.1																																																																																				0.619	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		9	284						9	284	---	---	---	---
MRPL27	51264	broad.mit.edu	37	17	48447367	48447368	+	Intron	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:48447367_48447368insG	ENST00000225969.4	-	3	284				MRPL27_ENST00000511860.1_Intron|MRPL27_ENST00000507088.1_Intron|MRPL27_ENST00000442592.3_Frame_Shift_Ins_p.L89fs|MRPL27_ENST00000503633.1_Intron	NM_016504.2	NP_057588.1	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27						translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			AAAAGGAAAAAGGGGGGCAGCA	0.495																																						ENST00000442592.3																			0				endometrium(1)|large_intestine(2)|urinary_tract(1)	4						c.(265-267)tttfs		mitochondrial ribosomal protein L27																																				SO:0001627	intron_variant	51264				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:48447367_48447368insG	AB049647	CCDS11564.1	17q21.3-q22	2012-09-13			ENSG00000108826	ENSG00000108826		"""Mitochondrial ribosomal proteins / large subunits"""	14483	protein-coding gene	gene with protein product		611837					Standard	NM_016504		Approved		uc002iqq.3	Q9P0M9	OTTHUMG00000162062	ENST00000225969.4:c.240+24->C	17.37:g.48447373_48447373dupG						MRPL27_ENST00000503633.1_Intron|MRPL27_ENST00000511860.1_Intron|MRPL27_ENST00000507088.1_Intron|MRPL27_ENST00000225969.4_Intron	p.F89fs			Q9P0M9	RM27_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.73e-07)		3	301_302	-	Breast(11;5.62e-19)		0					B2RE14	Frame_Shift_Ins	INS	ENST00000225969.4	37	c.265_266insC	CCDS11564.1																																																																																				0.495	MRPL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367057.1			17	1016						17	1016	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		40	1013						40	1013	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57733326	57733327	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:57733326_57733327insT	ENST00000269122.3	+	6	1181_1182	c.907_908insT	c.(907-909)attfs	p.I303fs	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Frame_Shift_Ins_p.I303fs	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	303	Globular terminal domain.|WD40-like repeat 7.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGGAGAAACAATTTTTGTTACT	0.371			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(907-909)tttfs		clathrin, heavy chain (Hc)																																				SO:0001589	frameshift_variant	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57733326_57733327insT	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.912dupT	17.37:g.57733331_57733331dupT	ENSP00000269122:p.Ile303fs					CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Frame_Shift_Ins_p.F303fs	p.F303fs	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			6	1181_1182	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		303			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Frame_Shift_Ins	INS	ENST00000269122.3	37	c.907_908insT	CCDS32696.1																																																																																				0.371	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		222	155						222	155	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C	rs372503255		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:60814265_60814266insC	ENST00000311269.5	-	6	1237_1238	c.963_964insG	c.(961-966)gggacafs	p.T322fs	MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.T360fs|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000544856.2_Frame_Shift_Ins_p.T321fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.T322fs|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.46																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(958-963)ggcatcfs		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	162333						ligase activity|zinc ion binding	g.chr17:60814265_60814266insC	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.964dupG	17.37:g.60814271_60814271dupC	ENSP00000311496:p.Thr322fs					RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs	p.I321fs			Q8NA82	MARHA_HUMAN			7	1338_1339	-			322					D3DU09|Q8IYS7|Q8N7Z7	Frame_Shift_Ins	INS	ENST00000311269.5	37	c.960_961insG	CCDS11635.1																																																																																				0.460	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		7	1117						7	1117	---	---	---	---
ACE	1636	broad.mit.edu	37	17	61559936	61559937	+	Frame_Shift_Ins	INS	-	-	G	rs370836540|rs145172277	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:61559936_61559937insG	ENST00000290866.4	+	8	1252_1253	c.1228_1229insG	c.(1228-1230)cggfs	p.R410fs	ACE_ENST00000421982.2_5'Flank|ACE_ENST00000538928.1_Frame_Shift_Ins_p.R410fs|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000428043.1_Frame_Shift_Ins_p.R410fs|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000290863.6_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	410	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTCCCTGCGTCGGGGGGCCAAC	0.609																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1228-1230)gggfs		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)																																			SO:0001589	frameshift_variant	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61559936_61559937insG	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1234dupG	17.37:g.61559942_61559942dupG	ENSP00000290866:p.Arg410fs					ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Frame_Shift_Ins_p.G410fs|ACE_ENST00000538928.1_Frame_Shift_Ins_p.G410fs	p.G410fs	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			8	1252_1253	+			410			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Frame_Shift_Ins	INS	ENST00000290866.4	37	c.1228_1229insG	CCDS11637.1																																																																																				0.609	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			7	258						7	258	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62049212	62049213	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:62049212_62049213insG	ENST00000435607.1	-	4	559		c.e4-2		SCN4A_ENST00000578147.1_Splice_Site|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGTGTACCTGGGGGGGAGAG	0.589																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.e4-2		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)																																			SO:0001630	splice_region_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049212_62049213insG	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.483-2->C	17.37:g.62049219_62049219dupG						SCN4A_ENST00000435607.1_Splice_Site				P35499	SCN4A_HUMAN			4	559	-								Q15478|Q16447|Q7Z6B1	Splice_Site	INS	ENST00000435607.1	37		CCDS45761.1																																																																																				0.589	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	Intron	8	122						8	122	---	---	---	---
PRKCA	5578	broad.mit.edu	37	17	64683327	64683328	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:64683327_64683328insA	ENST00000413366.3	+	6	654_655	c.628_629insA	c.(628-630)caafs	p.Q210fs		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	210	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)	TGAAAGCAAGCAAAAAACCAAA	0.401																																						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.(628-630)aaafs		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	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.chr17:64683327_64683328insA		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.634dupA	17.37:g.64683333_64683333dupA	ENSP00000408695:p.Gln210fs						p.K210fs	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		6	654_655	+			210			C2.		B5BU22|Q15137|Q32M72|Q96RE4	Frame_Shift_Ins	INS	ENST00000413366.3	37	c.628_629insA	CCDS11664.1																																																																																				0.401	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			9	370						9	370	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)caafs	p.Q1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(3709-3711)aagfs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083603_67083604insG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3710dupC	17.37:g.67083609_67083609dupG	ENSP00000284425:p.Gln1237fs					ABCA6_ENST00000446604.2_5'UTR	p.K1237fs	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			29	3883_3884	-	Breast(10;5.65e-12)		1237					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.3709_3710insC	CCDS11683.1																																																																																				0.376	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		14	757						14	757	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:71223356_71223357insG	ENST00000403627.3	-	2	328_329	c.268_269insC	c.(268-270)cagfs	p.Q90fs	FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.Q90fs|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416																																						ENST00000405159.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(268-270)gacfs		family with sequence similarity 104, member A																																				SO:0001589	frameshift_variant	84923							g.chr17:71223356_71223357insG	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.269dupC	17.37:g.71223363_71223363dupG	ENSP00000384648:p.Gln90fs					FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron	p.D90fs	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	332_333	-			90					B4E339	Frame_Shift_Ins	INS	ENST00000403627.3	37	c.268_269insC	CCDS11693.2																																																																																				0.416	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		21	258						21	258	---	---	---	---
MRPS7	51081	broad.mit.edu	37	17	73258564	73258565	+	Intron	INS	-	-	C	rs200027069		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:73258564_73258565insC	ENST00000245539.6	+	2	310				GGA3_ENST00000538886.1_5'Flank|MRPS7_ENST00000579761.1_Intron|GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000537686.1_5'Flank|MRPS7_ENST00000579002.1_Frame_Shift_Ins_p.S53fs	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7						translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCTCCTCCTTTCCCCCCCTCCC	0.554																																						ENST00000579002.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(157-159)cccfs		mitochondrial ribosomal protein S7				1,4259		0,1,2129						-1.0	0.0			120	4,8248		0,4,4122	no	intron	MRPS7	NM_015971.3		0,5,6251	A1A1,A1R,RR		0.0485,0.0235,0.04				5,12507				SO:0001627	intron_variant	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73258564_73258565insC	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.84-13->C	17.37:g.73258571_73258571dupC						MRPS7_ENST00000579761.1_Intron|MRPS7_ENST00000245539.6_Intron	p.P53fs			Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		1	572_573	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		0					B2R9N5|Q53GD6	Frame_Shift_Ins	INS	ENST00000245539.6	37	c.157_158insC	CCDS11718.1																																																																																				0.554	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		22	627						22	627	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73493880	73493881	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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|KIAA0195_ENST00000375248.5_Frame_Shift_Ins_p.P1153fs|AC100787.1_ENST00000579379.1_RNA	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_ENST00000579208.1_Frame_Shift_Ins_p.NP793fs|KIAA0195_ENST00000375248.5_Frame_Shift_Ins_p.NP1152fs	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		89	2207						89	2207	---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80758858	80758860	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:80758858_80758860delGGT	ENST00000355528.4	+	9	1066_1068	c.936_938delGGT	c.(934-939)aaggtg>aag	p.V313del	TBCD_ENST00000397466.2_De_novo_Start_OutOfFrame|TBCD_ENST00000539345.2_In_Frame_Del_p.V313del	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	313					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGAAGCCGAAGGTGGCAGCATGG	0.675																																						ENST00000397466.2																			0													tubulin folding cofactor D																																				SO:0001651	inframe_deletion	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80758858_80758860delGGT	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.936_938delGGT	17.37:g.80758858_80758860delGGT	ENSP00000347719:p.Val313del					TBCD_ENST00000539345.2_In_Frame_Del_p.KV312del|TBCD_ENST00000355528.4_In_Frame_Del_p.KV312del				Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		0	1045_1047	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)						O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Translation_Start_Site	DEL	ENST00000355528.4	37		CCDS45818.1																																																																																				0.675	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		7	36						7	36	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13113612	13113613	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr18:13113612_13113613insG	ENST00000325971.8	+	39	6880_6881	c.5287_5288insG	c.(5287-5289)aggfs	p.R1763fs	CEP192_ENST00000506447.1_Frame_Shift_Ins_p.R2359fs|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Frame_Shift_Ins_p.R1884fs			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1763					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						GCCCAGAGGTAGGGGGGATTAT	0.426																																						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.(7075-7077)gggfs		centrosomal protein 192kDa																																				SO:0001589	frameshift_variant	55125							g.chr18:13113612_13113613insG	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.5293dupG	18.37:g.13113618_13113618dupG	ENSP00000317156:p.Arg1763fs					CEP192_ENST00000325971.8_Frame_Shift_Ins_p.G1763fs|CEP192_ENST00000430049.2_Frame_Shift_Ins_p.G1884fs|CEP192_ENST00000540847.2_3'UTR	p.G2359fs	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			41	7155_7156	+			1954					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Frame_Shift_Ins	INS	ENST00000325971.8	37	c.7075_7076insG																																																																																					0.426	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		7	309						7	309	---	---	---	---
TRAPPC8	22878	broad.mit.edu	37	18	29437545	29437546	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr18:29437545_29437546insGG	ENST00000283351.4	-	20	3480_3481	c.3145_3146insCC	c.(3145-3147)tttfs	p.F1049fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.F995fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1049					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAAAACAAAAAGTTAATTTCA	0.376																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3145-3147)tttfs		trafficking protein particle complex 8																																				SO:0001589	frameshift_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29437545_29437546insGG	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3145_3146insCC	18.37:g.29437545_29437546insGG	ENSP00000283351:p.Phe1049fs					TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.F995fs	p.F1049fs	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			20	3480_3481	-			1049					A0JP15|B3KME5|Q9H0L2	Frame_Shift_Ins	INS	ENST00000283351.4	37	c.3145_3146insCC	CCDS11901.1																																																																																				0.376	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		19	149						19	149	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45567084	45567085	+	Frame_Shift_Ins	INS	-	-	C	rs115080210		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr18:45567084_45567085insC	ENST00000588982.1	-	3	895_896	c.394_395insG	c.(394-396)gacfs	p.D132fs	ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.D132fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.D132fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.D132fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.D132fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	132	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						ctcccccccgtcccccCCAGGC	0.579																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(394-396)cggfs		zinc finger and BTB domain containing 7C																																				SO:0001589	frameshift_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45567084_45567085insC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.395dupG	18.37:g.45567091_45567091dupC	ENSP00000468782:p.Asp132fs					ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.R132fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.R132fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.R132fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.R132fs	p.R132fs			A1YPR0	ZBT7C_HUMAN			3	895_896	-			132			Asp-rich.|Glu-rich.		O73453	Frame_Shift_Ins	INS	ENST00000588982.1	37	c.394_395insG	CCDS32830.1																																																																																				0.579	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		8	225						8	225	---	---	---	---
ATP8B1	5205	broad.mit.edu	37	18	55317669	55317669	+	Frame_Shift_Del	DEL	G	G	-	rs112600442		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr18:55317669delG	ENST00000283684.4	-	26	3460	c.3461delC	c.(3460-3462)gctfs	p.A1154fs	ATP8B1_ENST00000536015.1_Frame_Shift_Del_p.A1154fs|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1154					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TAAGCACACAGCAACAGCCAG	0.433																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(3460-3462)gtfs		ATPase, aminophospholipid transporter, class I, type 8B, member 1							184.0	146.0	159.0					18																	55317669		2203	4300	6503	SO:0001589	frameshift_variant	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55317669delG	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3461delC	18.37:g.55317669delG	ENSP00000283684:p.Ala1154fs					ATP8B1_ENST00000283684.4_Frame_Shift_Del_p.A1154fs|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA	p.A1154fs	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			27	3580	-		Colorectal(73;0.229)	1154					Q9BTP8	Frame_Shift_Del	DEL	ENST00000283684.4	37	c.3461delC	CCDS11965.1																																																																																				0.433	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		21	400						21	400	---	---	---	---
LRG1	116844	broad.mit.edu	37	19	4538452	4538453	+	Frame_Shift_Ins	INS	-	-	G	rs371534593|rs545216965		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:4538452_4538453insG	ENST00000306390.6	-	2	1003_1004	c.543_544insC	c.(541-546)cccgggfs	p.G182fs	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	182					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGCCCGGGGGGCAGTT	0.619																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(541-546)ccggctfs		leucine-rich alpha-2-glycoprotein 1																																				SO:0001589	frameshift_variant	116844					extracellular region|membrane		g.chr19:4538452_4538453insG		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.544dupC	19.37:g.4538458_4538458dupG	ENSP00000302621:p.Gly182fs					CTB-50L17.14_ENST00000586020.1_Intron	p.A182fs	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1003_1004	-		Hepatocellular(1079;0.137)	182					Q8N4F5|Q96QZ4	Frame_Shift_Ins	INS	ENST00000306390.6	37	c.543_544insC	CCDS12130.1																																																																																				0.619	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		9	369						9	369	---	---	---	---
ZNRF4	148066	broad.mit.edu	37	19	5456529	5456530	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:5456529_5456530insC	ENST00000222033.4	+	1	1104_1105	c.1027_1028insC	c.(1027-1029)gccfs	p.A343fs		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	343						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTTCTCCCAAGCCCCCCGGCGC	0.609																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1027-1029)cccfs		zinc and ring finger 4																																				SO:0001589	frameshift_variant	148066					integral to membrane	zinc ion binding	g.chr19:5456529_5456530insC	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1033dupC	19.37:g.5456535_5456535dupC	ENSP00000222033:p.Ala343fs						p.P343fs	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	1104_1105	+			343					A8K886|O75866	Frame_Shift_Ins	INS	ENST00000222033.4	37	c.1027_1028insC	CCDS42475.1																																																																																				0.609	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		7	210						7	210	---	---	---	---
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)cccaagfs	p.K891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AACGAGGACTTGGGGGGGATGG	0.574																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2668-2673)ccagtcfs		complement component 3																																				SO:0001589	frameshift_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697480_6697481insG	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2671dupC	19.37:g.6697487_6697487dupG	ENSP00000245907:p.Lys891fs						p.V891fs	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2762_2763	-			891					A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	c.2670_2671insC	CCDS32883.1																																																																																				0.574	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		54	1107						54	1107	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)cggfs	p.R215fs	SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.R93fs|SH2D3A_ENST00000599563.1_5'UTR	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		21	454						21	454	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8196624	8196625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:8196624_8196625insC	ENST00000600128.1	-	15	2217_2218	c.1803_1804insG	c.(1801-1806)gggctgfs	p.L602fs	FBN3_ENST00000270509.2_Frame_Shift_Ins_p.L602fs|FBN3_ENST00000601739.1_Frame_Shift_Ins_p.L602fs			Q75N90	FBN3_HUMAN	fibrillin 3	602	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTACCGCCAGCCCCCCCAGGC	0.678																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1801-1806)ggtggcfs		fibrillin 3																																				SO:0001589	frameshift_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8196624_8196625insC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1804dupG	19.37:g.8196631_8196631dupC	ENSP00000470498:p.Leu602fs					FBN3_ENST00000601739.1_Frame_Shift_Ins_p.G602fs|FBN3_ENST00000270509.2_Frame_Shift_Ins_p.G602fs	p.G602fs			Q75N90	FBN3_HUMAN			15	2217_2218	-			602			EGF-like 7; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Ins	INS	ENST00000600128.1	37	c.1803_1804insG	CCDS12196.1																																																																																				0.678	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		10	87						10	87	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9059338	9059339	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:9059338_9059339insG	ENST00000397910.4	-	3	28310_28311	c.28107_28108insC	c.(28105-28110)cccaaafs	p.K9370fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9372	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						GGACCTGTTTTGGGGGTGATGG	0.505																																						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.(28105-28110)ccaaacfs		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.chr19:9059338_9059339insG	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.28108dupC	19.37:g.9059343_9059343dupG	ENSP00000381008:p.Lys9370fs						p.N9370fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28310_28311	-			9372			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.28107_28108insC	CCDS54212.1																																																																																				0.505	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	400						8	400	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		20	394						20	394	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072450	9072451	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:9072450_9072451insG	ENST00000397910.4	-	3	15198_15199	c.14995_14996insC	c.(14995-14997)cagfs	p.Q4999fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5001	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						GATCCCTGCCTGGGGGGTTGTA	0.465																																						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.(14995-14997)ggcfs		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.chr19:9072450_9072451insG	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.14996dupC	19.37:g.9072456_9072456dupG	ENSP00000381008:p.Gln4999fs						p.G4999fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	15198_15199	-			5001			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.14995_14996insC	CCDS54212.1																																																																																				0.465	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	390						9	390	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000359526.4_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_ENST00000359526.4_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000540357.1_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		46	650						46	650	---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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			8	696						8	696	---	---	---	---
ZNF625	90589	broad.mit.edu	37	19	12256750	12256751	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:12256750_12256751insC	ENST00000355738.1	-	4	631_632	c.282_283insG	c.(280-285)gggaaafs	p.K95fs	ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.K95fs|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.K161fs|ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA			Q96I27	ZN625_HUMAN	zinc finger protein 625	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TCATAAGGTTTCCCCCCAGTGT	0.421																																						ENST00000355738.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						c.(280-285)ggaaccfs		zinc finger protein 625																																				SO:0001589	frameshift_variant	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256750_12256751insC	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.283dupG	19.37:g.12256756_12256756dupC	ENSP00000347977:p.Lys95fs					ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.T161fs|ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.T95fs|ZNF625_ENST00000455799.1_3'UTR	p.T95fs			Q96I27	ZN625_HUMAN			4	631_632	-			95					A4FU45|I3L0E9	Frame_Shift_Ins	INS	ENST00000355738.1	37	c.282_283insG																																																																																					0.421	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		10	1011						10	1011	---	---	---	---
TNPO2	30000	broad.mit.edu	37	19	12812575	12812576	+	Frame_Shift_Ins	INS	-	-	C	rs200937372		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:12812575_12812576insC	ENST00000592287.1	-	22	2609_2610	c.2501_2502insG	c.(2500-2502)ggcfs	p.G834fs	TNPO2_ENST00000356861.5_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000441499.1_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000450764.2_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000425528.1_Frame_Shift_Ins_p.G834fs|TNPO2_ENST00000588216.1_Frame_Shift_Ins_p.G824fs	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	834					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTGCACAACGCCCCCCGGGTT	0.639																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2500-2502)ggtfs		transportin 2																																				SO:0001589	frameshift_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12812575_12812576insC	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2502dupG	19.37:g.12812581_12812581dupC	ENSP00000468434:p.Gly834fs					TNPO2_ENST00000592287.1_Frame_Shift_Ins_p.G834fs|TNPO2_ENST00000356861.5_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000588216.1_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000441499.1_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000450764.2_Frame_Shift_Ins_p.G824fs	p.G834fs			O14787	TNPO2_HUMAN			23	2858_2859	-			834					O14655|Q6IN77	Frame_Shift_Ins	INS	ENST00000592287.1	37	c.2501_2502insG	CCDS45991.1																																																																																				0.639	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		10	295						10	295	---	---	---	---
IL27RA	9466	broad.mit.edu	37	19	14157253	14157254	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:14157253_14157254insC	ENST00000263379.2	+	8	1089_1090	c.964_965insC	c.(964-966)gccfs	p.A322fs		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	322	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)	p.R324fs*2(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TTCAGCCTCTGCCCCCCGTAGC	0.629																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			1	Insertion - Frameshift(1)	p.R324fs*2(1)	large_intestine(1)	breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(964-966)cccfs		interleukin 27 receptor, alpha																																				SO:0001589	frameshift_variant	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14157253_14157254insC	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.970dupC	19.37:g.14157259_14157259dupC	ENSP00000263379:p.Ala322fs						p.P322fs	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			8	1089_1090	+			322			Fibronectin type-III 2.		A0N0L1|O60624	Frame_Shift_Ins	INS	ENST00000263379.2	37	c.964_965insC	CCDS12303.1																																																																																				0.629	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		7	516						7	516	---	---	---	---
SLC1A6	6511	broad.mit.edu	37	19	15067446	15067447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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	976						7	976	---	---	---	---
AP1M1	8907	broad.mit.edu	37	19	16314383	16314384	+	Frame_Shift_Ins	INS	-	-	G	rs146546344	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:16314383_16314384insG	ENST00000291439.3	+	2	605_606	c.156_157insG	c.(157-159)gggfs	p.G53fs	AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.G53fs|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.G53fs|AP1M1_ENST00000541844.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	53					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCCTGGCCCACGGGGGGGTCCG	0.594																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(154-159)caggggfs		adaptor-related protein complex 1, mu 1 subunit																																				SO:0001589	frameshift_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16314383_16314384insG		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.163dupG	19.37:g.16314390_16314390dupG	ENSP00000291439:p.Gly53fs					AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.QG52fs	p.QG52fs	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			2	605_606	+			52					Q4TTY5	Frame_Shift_Ins	INS	ENST00000291439.3	37	c.156_157insG	CCDS12342.1																																																																																				0.594	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		11	371						11	371	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)gggcatfs	p.H1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584																																						ENST00000443236.1																			1	Insertion - Frameshift(1)	p.H1052fs*30(1)	ovary(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3151-3156)ggatcafs		C3 and PZP-like, alpha-2-macroglobulin domain containing 8																																				SO:0001589	frameshift_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039883_17039884insC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3154dupG	19.37:g.17039890_17039890dupC	ENSP00000402505:p.His1052fs						p.S1052fs	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			24	3184_3185	-			1005					Q8NC09|Q9ULD7	Frame_Shift_Ins	INS	ENST00000443236.1	37	c.3153_3154insG	CCDS42519.1																																																																																				0.584	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		11	160						11	160	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17081702	17081703	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:17081702_17081703insG	ENST00000443236.1	-	18	2383_2384	c.2352_2353insC	c.(2350-2355)cccaga>cccCaga	p.R785fs	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	738						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCGTTACCTGGGGGGGTGCC	0.569																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.e18+1		C3 and PZP-like, alpha-2-macroglobulin domain containing 8				11,3623		0,11,1806						2.2	0.9		dbSNP_126	26	10,7876		0,10,3933	no	frameshift-near-splice	CPAMD8	NM_015692.2		0,21,5739	A1A1,A1R,RR		0.1268,0.3027,0.1823				21,11499				SO:0001630	splice_region_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17081702_17081703insG	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2354+1->C	19.37:g.17081709_17081709dupG						CPAMD8_ENST00000388925.4_3'UTR	p.N785_splice	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			18	2383_2384	-			738					Q8NC09|Q9ULD7	Splice_Site	INS	ENST00000443236.1	37	c.2354_splice	CCDS42519.1																																																																																				0.569	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	Frame_Shift_Ins	7	56						7	56	---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17488050	17488051	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:17488050_17488051insC	ENST00000252590.4	-	1	108_109	c.47_48insG	c.(46-48)ggcfs	p.G16fs		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	16					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCGAGAGCTGCCCCCCGCCCG	0.624																																						ENST00000252590.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(46-48)gagfs		plasmalemma vesicle associated protein																																				SO:0001589	frameshift_variant	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17488050_17488051insC	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.48dupG	19.37:g.17488056_17488056dupC	ENSP00000252590:p.Gly16fs						p.E16fs	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			1	108_109	-			16					Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Frame_Shift_Ins	INS	ENST00000252590.4	37	c.47_48insG	CCDS32952.1																																																																																				0.624	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		8	375						8	375	---	---	---	---
LRRC25	126364	broad.mit.edu	37	19	18502937	18502938	+	Splice_Site	INS	-	-	G	rs537434086		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:18502937_18502938insG	ENST00000339007.3	-	2	1433		c.e2-2		LRRC25_ENST00000595840.1_Splice_Site	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GGGTGAGCCCTGGGGGGACAGA	0.574																																						ENST00000339007.3																			0				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						c.e2-2		leucine rich repeat containing 25				1,4263		0,1,2131						4.0	0.9			80	2,8252		0,2,4125	no	splice-3	LRRC25	NM_145256.2		0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				SO:0001630	splice_region_variant	126364					integral to membrane		g.chr19:18502937_18502938insG	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.780-2->C	19.37:g.18502943_18502943dupG						LRRC25_ENST00000595840.1_Splice_Site		NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN			2	1433	-								Q6IQ00|Q8N9A5	Splice_Site	INS	ENST00000339007.3	37		CCDS12377.1																																																																																				0.574	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256	Intron	10	974						10	974	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039041	31039042	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:31039041_31039042insG	ENST00000355537.3	+	4	2662_2663	c.2515_2516insG	c.(2515-2517)aggfs	p.R839fs		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	839					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGACATCCTGAGGGGGGCCTTC	0.584																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2515-2517)gggfs		zinc finger protein 536																																				SO:0001589	frameshift_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039041_31039042insG		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2521dupG	19.37:g.31039047_31039047dupG	ENSP00000347730:p.Arg839fs						p.G839fs	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2662_2663	+	Esophageal squamous(110;0.0834)		839					A2RU18	Frame_Shift_Ins	INS	ENST00000355537.3	37	c.2515_2516insG	CCDS32984.1																																																																																				0.584	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		8	436						8	436	---	---	---	---
HAUS5	23354	broad.mit.edu	37	19	36113838	36113840	+	In_Frame_Del	DEL	CCA	CCA	-	rs373279391		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:36113838_36113840delCCA	ENST00000203166.5	+	19	1870_1872	c.1845_1847delCCA	c.(1843-1848)ccccag>ccg	p.Q616del	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	616					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TGTCCCTGCCCCAGTGGCGGCTG	0.655																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(1843-1848)ccg>cc		HAUS augmin-like complex, subunit 5																																				SO:0001651	inframe_deletion	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36113838_36113840delCCA	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1845_1847delCCA	19.37:g.36113838_36113840delCCA	ENSP00000439056:p.Gln616del					HAUS5_ENST00000379045.2_3'UTR	p.PQ615del	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			19	1870_1872	+			615					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	In_Frame_Del	DEL	ENST00000203166.5	37	c.1845_1847delCCA	CCDS42550.1																																																																																				0.655	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			13	121						13	121	---	---	---	---
HCST	10870	broad.mit.edu	37	19	36393526	36393527	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:36393526_36393527insT	ENST00000246551.4	+	1	145_146	c.31_32insT	c.(31-33)cttfs	p.L11fs	NFKBID_ENST00000585544.1_5'Flank|HCST_ENST00000437550.2_Frame_Shift_Ins_p.L11fs|NFKBID_ENST00000396901.1_5'Flank|NFKBID_ENST00000352614.2_5'Flank|NFKBID_ENST00000606253.1_5'Flank			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	11					positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of immune response (GO:0050776)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase binding (GO:0043548)|receptor binding (GO:0005102)			lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCTTCCTGCTTTTGCTCCCA	0.584																																						ENST00000246551.4																			0				lung(4)	4						c.(31-33)tttfs		hematopoietic cell signal transducer																																				SO:0001589	frameshift_variant	10870				regulation of immune response	integral to membrane|plasma membrane		g.chr19:36393526_36393527insT	AF072844	CCDS32998.1, CCDS46057.1	19q13.1	2009-05-07	2003-10-14	2003-10-15	ENSG00000126264	ENSG00000126264			16977	protein-coding gene	gene with protein product	"""DNAX-activation protein 10"", ""kinase assoc pro of ~10kDa"""	604089	"""phosphoinositide-3-kinase adaptor protein"""	PIK3AP		10426994	Standard	NM_014266		Approved	DAP10, DKFZP586C1522, KAP10	uc002ocl.1	Q9UBK5	OTTHUMG00000048132	ENST00000246551.4:c.35dupT	19.37:g.36393530_36393530dupT	ENSP00000246551:p.Leu11fs					HCST_ENST00000437550.2_Frame_Shift_Ins_p.F11fs	p.F11fs			Q9UBK5	HCST_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		1	145_146	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		11					Q9UBS1|Q9Y3Y0	Frame_Shift_Ins	INS	ENST00000246551.4	37	c.31_32insT	CCDS32998.1																																																																																				0.584	HCST-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109520.3	NM_014266		9	1375						9	1375	---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40320998	40320999	+	Intron	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:40320998_40320999insG	ENST00000593685.1	-	4	841				DYRK1B_ENST00000597639.1_Intron|DYRK1B_ENST00000323039.5_Intron|DYRK1B_ENST00000430012.2_Intron|DYRK1B_ENST00000348817.3_Intron|DYRK1B_ENST00000601972.1_Frame_Shift_Ins_p.H130fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B						adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ATCAGGGTGGTGGGGGGTGTCC	0.584																																						ENST00000601972.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(388-390)ccafs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B																																				SO:0001627	intron_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40320998_40320999insG	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.372+15->C	19.37:g.40321004_40321004dupG						DYRK1B_ENST00000348817.3_Intron|DYRK1B_ENST00000430012.2_Intron|DYRK1B_ENST00000597639.1_Intron|DYRK1B_ENST00000593685.1_Intron|DYRK1B_ENST00000323039.5_Intron	p.P130fs			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		4	618_619	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		578			Protein kinase.		O75258|O75788|O75789	Frame_Shift_Ins	INS	ENST00000593685.1	37	c.388_389insC	CCDS12543.1																																																																																				0.584	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		7	263						7	263	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)cccaagfs	p.K318fs	DYRK1B_ENST00000597639.1_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|DYRK1B_ENST00000430012.2_5'Flank|DYRK1B_ENST00000348817.3_5'Flank|FBL_ENST00000593503.1_5'UTR|DYRK1B_ENST00000593685.1_5'Flank|DYRK1B_ENST00000601972.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(949-954)ccaggtfs		fibrillarin																																				SO:0001589	frameshift_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40325192_40325193insG	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.952dupC	19.37:g.40325198_40325198dupG	ENSP00000221801:p.Lys318fs					FBL_ENST00000593503.1_5'UTR	p.G318fs	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	9	1064_1065	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	318					B5BUE8|O75259|Q6IAT5|Q9UPI6	Frame_Shift_Ins	INS	ENST00000221801.3	37	c.951_952insC	CCDS12545.1																																																																																				0.505	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		18	759						18	759	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40433028	40433028	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:40433028delC	ENST00000221347.6	-	2	1248	c.1241delG	c.(1240-1242)ggafs	p.G414fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	414	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)			GGTGAGCAGTCCCAAGTTGGT	0.597																																						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.(1240-1242)gafs		Fc fragment of IgG binding protein							86.0	71.0	77.0					19																	40433028		2203	4300	6503	SO:0001589	frameshift_variant	8857					extracellular region	protein binding	g.chr19:40433028delC	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.1241delG	19.37:g.40433028delC	ENSP00000221347:p.Gly414fs						p.G414fs	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	1248	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		414			IgGFc-binding.		O95784	Frame_Shift_Del	DEL	ENST00000221347.6	37	c.1241delG	CCDS12546.1																																																																																				0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		19	187						19	187	---	---	---	---
LTBP4	8425	broad.mit.edu	37	19	41132910	41132911	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:41132910_41132911insC	ENST00000308370.7	+	32	4214_4215	c.4214_4215insC	c.(4213-4218)cgccccfs	p.RP1405fs	LTBP4_ENST00000545697.1_Frame_Shift_Ins_p.RP773fs|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Frame_Shift_Ins_p.RP1368fs|LTBP4_ENST00000396819.3_Frame_Shift_Ins_p.RP1338fs	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1406					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AATGTGCTACGCCCCCCCGCAT	0.629																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4213-4215)cccfs		latent transforming growth factor beta binding protein 4																																				SO:0001589	frameshift_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41132910_41132911insC	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4221dupC	19.37:g.41132917_41132917dupC	ENSP00000311905:p.Arg1405fs					LTBP4_ENST00000396819.3_Frame_Shift_Ins_p.P1338fs|LTBP4_ENST00000545697.1_Frame_Shift_Ins_p.P773fs|LTBP4_ENST00000204005.9_Frame_Shift_Ins_p.P1368fs|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	p.P1405fs	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		32	4214_4215	+			1406					O00508|O75412|O75413	Frame_Shift_Ins	INS	ENST00000308370.7	37	c.4214_4215insC																																																																																					0.629	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		8	98						8	98	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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					CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs	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		12	341						12	341	---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:42621520_42621521insG	ENST00000526816.2	-	5	202		c.e5-2		POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000560398.1_Frame_Shift_Ins_p.Q84fs|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site			P09086	PO2F2_HUMAN	POU class 2 homeobox 2						cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	AGCCTTGATCTGGGGGGGAGAG	0.634																																						ENST00000560398.1																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(250-252)gatfs		POU class 2 homeobox 2																																				SO:0001630	splice_region_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42621520_42621521insG		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.187-2->C	19.37:g.42621527_42621527dupG						POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site	p.D84fs			P09086	PO2F2_HUMAN			5	257_258	-		Prostate(69;0.059)	62					Q16648|Q7M4M8|Q9BRS4	Frame_Shift_Ins	INS	ENST00000526816.2	37	c.250_251insC	CCDS56095.1																																																																																				0.634	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		Intron	13	225						13	225	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	527	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		19	972						19	972	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:45805663_45805664insC	ENST00000262891.4	+	17	2285_2286	c.1954_1955insC	c.(1954-1956)gccfs	p.A652fs	MARK4_ENST00000300843.4_Frame_Shift_Ins_p.P679fs	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	652					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2032-2037)ccccccfs		MAP/microtubule affinity-regulating kinase 4																																				SO:0001589	frameshift_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805663_45805664insC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1960dupC	19.37:g.45805669_45805669dupC	ENSP00000262891:p.Ala652fs					MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	p.PP678fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	18	2331_2332	+		all_neural(266;0.224)|Ovarian(192;0.231)	0					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Frame_Shift_Ins	INS	ENST00000262891.4	37	c.2034_2035insC	CCDS56097.1																																																																																				0.639	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		10	286						10	286	---	---	---	---
IGFL2	147920	broad.mit.edu	37	19	46663998	46663999	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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|IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA	NM_001135113.1	NP_001128585.1	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	68						extracellular region (GO:0005576)				cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCCAATGTGGTCCCCCCTGCAC	0.554																																						ENST00000434646.2																			0				cervix(1)|lung(5)	6						c.(232-237)ggccccfs		IGF-like family member 2																																				SO:0001589	frameshift_variant	147920					extracellular region	protein binding	g.chr19:46663998_46663999insC	AY672112	CCDS46121.1, CCDS46122.1	19q13.32	2006-07-14							32929	protein-coding gene	gene with protein product		610545				14702039	Standard	NM_001002915		Approved	UNQ645	uc010xxv.2	Q6UWQ7		ENST00000377693.4:c.207dupC	19.37:g.46664004_46664004dupC	ENSP00000366922:p.Pro68fs					IGFL2_ENST00000377693.4_Frame_Shift_Ins_p.GP67fs|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR	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		11	1575						11	1575	---	---	---	---
EHD2	30846	broad.mit.edu	37	19	48244286	48244287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:48244286_48244287insG	ENST00000263277.3	+	6	1480_1481	c.1229_1230insG	c.(1228-1233)caggggfs	p.QG410fs	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Frame_Shift_Ins_p.QG274fs	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	410					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GTGGGCGTGCAGGGGGGCGCTT	0.673																																						ENST00000263277.3																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(1228-1230)cggfs		EH-domain containing 2																																				SO:0001589	frameshift_variant	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48244286_48244287insG	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1235dupG	19.37:g.48244292_48244292dupG	ENSP00000263277:p.Gln410fs					EHD2_ENST00000538399.1_Frame_Shift_Ins_p.R274fs|EHD2_ENST00000540884.1_3'UTR	p.R410fs	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	6	1480_1481	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	410					B2RDH9|B4DNU6|Q96CB6	Frame_Shift_Ins	INS	ENST00000263277.3	37	c.1229_1230insG	CCDS12704.1																																																																																				0.673	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			8	271						8	271	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)catfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs					CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs	p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382_383	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37	c.340_341insG																																																																																					0.436	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		17	264						17	264	---	---	---	---
SLC6A16	28968	broad.mit.edu	37	19	49813085	49813086	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:49813085_49813086insG	ENST00000335875.4	-	5	942		c.e5-2		SLC6A16_ENST00000454748.3_Splice_Site|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16						neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		ATTCAGGATCTGGGGGGACCTG	0.535																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.e5-2		solute carrier family 6, member 16																																				SO:0001630	splice_region_variant	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49813085_49813086insG	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.701-2->C	19.37:g.49813091_49813091dupG						SLC6A16_ENST00000335875.4_Splice_Site				Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	5	902	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)						Q8IYV4|Q9Y5I9	Splice_Site	INS	ENST00000335875.4	37		CCDS42590.1																																																																																				0.535	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037	Intron	14	811						14	811	---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50216300	50216301	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:50216300_50216301insA	ENST00000392518.4	+	19	2577_2578	c.2205_2206insA	c.(2206-2208)aaafs	p.K736fs	CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.K725fs|CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.K647fs|CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.K736fs|CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.K736fs	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	736					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ACATCTCCAGCAAAAAATCAAG	0.505																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2203-2208)agaaaafs		carnitine palmitoyltransferase 1C																																				SO:0001589	frameshift_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50216300_50216301insA	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.2211dupA	19.37:g.50216306_50216306dupA	ENSP00000376303:p.Lys736fs					CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.RK646fs|CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.RK735fs|CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.RK724fs|CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.RK735fs	p.RK735fs	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	19	2577_2578	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	735					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Frame_Shift_Ins	INS	ENST00000392518.4	37	c.2205_2206insA	CCDS12779.1																																																																																				0.505	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		8	1054						8	1054	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)ccafs	p.P583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1747-1749)caafs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243063_50243064insG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1749dupC	19.37:g.50243070_50243070dupG	ENSP00000246801:p.Pro583fs					TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	p.Q583fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1830_1831	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	583					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1748_1749insC	CCDS12780.1																																																																																				0.545	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		21	449						21	449	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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	572						10	572	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C	rs557448259|rs568951683	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)gtcfs	p.V333fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_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		22	524						22	524	---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50905323	50905324	+	Frame_Shift_Ins	INS	-	-	G	rs140707092|rs150702648		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:50905323_50905324insG	ENST00000440232.2	+	5	584_585	c.531_532insG	c.(532-534)gggfs	p.G178fs	POLD1_ENST00000595904.1_Frame_Shift_Ins_p.G178fs|POLD1_ENST00000599857.1_Frame_Shift_Ins_p.G178fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	178					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R177R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGACAGTCGCGGGGGGAGGGA	0.673								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			1	Substitution - coding silent(1)	p.R177R(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(529-534)cgggggfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit																																				SO:0001589	frameshift_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905323_50905324insG		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.537dupG	19.37:g.50905329_50905329dupG	ENSP00000406046:p.Gly178fs					POLD1_ENST00000595904.1_Frame_Shift_Ins_p.RG177fs|POLD1_ENST00000599857.1_Frame_Shift_Ins_p.RG177fs	p.RG177fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	5	584_585	+		all_neural(266;0.0571)	177		R -> H (in dbSNP:rs3218750).			Q8NER3|Q96H98	Frame_Shift_Ins	INS	ENST00000440232.2	37	c.531_532insG	CCDS12795.1																																																																																				0.673	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			7	79						7	79	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51192459	51192460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:51192459_51192460insC	ENST00000293441.1	-	15	2059_2060	c.2041_2042insG	c.(2041-2043)gccfs	p.A681fs	SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.A681fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.A672fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.A68fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	681	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.A681S(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCACCCTTGGCCCCCCGGAGC	0.609																																						ENST00000293441.1																			1	Substitution - Missense(1)	p.A681S(1)	lung(1)	breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2041-2043)caafs		SH3 and multiple ankyrin repeat domains 1																																				SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51192459_51192460insC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2042dupG	19.37:g.51192465_51192465dupC	ENSP00000293441:p.Ala681fs					SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs|SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs	p.Q681fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	15	2059_2060	-		all_neural(266;0.057)	681			PDZ.		A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Ins	INS	ENST00000293441.1	37	c.2041_2042insG	CCDS12799.1																																																																																				0.609	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		7	332						7	332	---	---	---	---
GPR32	2854	broad.mit.edu	37	19	51274914	51274915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:51274914_51274915insC	ENST00000270590.4	+	1	1194_1195	c.1057_1058insC	c.(1057-1059)gccfs	p.A353fs		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	353					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTGGCAACGCCCCCCGGGAA	0.525																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1057-1059)cccfs		G protein-coupled receptor 32																																				SO:0001589	frameshift_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274914_51274915insC	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.1063dupC	19.37:g.51274920_51274920dupC	ENSP00000270590:p.Ala353fs						p.P353fs	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	1194_1195	+		all_neural(266;0.131)	353					Q502U7|Q6NWS5	Frame_Shift_Ins	INS	ENST00000270590.4	37	c.1057_1058insC	CCDS12801.1																																																																																				0.525	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			12	347						12	347	---	---	---	---
LIM2	3982	broad.mit.edu	37	19	51890511	51890512	+	Intron	INS	-	-	G	rs73933350	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:51890511_51890512insG	ENST00000596399.1	-	2	223				LIM2_ENST00000221973.3_Frame_Shift_Ins_p.G63fs	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa						cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GGACCCTGGCCGGGGGGCTCAC	0.649																																						ENST00000221973.3																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(184-189)ccgccafs		lens intrinsic membrane protein 2, 19kDa																																				SO:0001627	intron_variant	3982				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	g.chr19:51890511_51890512insG		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.175+10->C	19.37:g.51890517_51890517dupG						LIM2_ENST00000596399.1_Intron	p.P63fs	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)	2	228_229	-		all_neural(266;0.0529)	58					Q6B083|Q9BXD0|Q9HAR5	Frame_Shift_Ins	INS	ENST00000596399.1	37	c.186_187insC	CCDS59415.1																																																																																				0.649	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657		8	90						8	90	---	---	---	---
ZNF528	84436	broad.mit.edu	37	19	52919519	52919519	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:52919519delA	ENST00000360465.3	+	7	1840	c.1414delA	c.(1414-1416)aaafs	p.K472fs	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	472					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)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGAATGTGGCAAAGTCTTCAG	0.398																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1414-1416)aafs		zinc finger protein 528							58.0	57.0	58.0					19																	52919519		2203	4300	6503	SO:0001589	frameshift_variant	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919519delA	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1414delA	19.37:g.52919519delA	ENSP00000353652:p.Lys472fs					ZNF528_ENST00000391788.2_3'UTR	p.K472fs	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1840	+			472					B3KPN4|Q86T88|Q96JK0	Frame_Shift_Del	DEL	ENST00000360465.3	37	c.1414delA	CCDS33091.1																																																																																				0.398	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		9	358						9	358	---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54649666	54649667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:54649666_54649667insC	ENST00000406403.1	+	8	2327_2328	c.724_725insC	c.(724-726)tccfs	p.S242fs	CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.S61fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.S242fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	242					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGTCGCCACCTCCCCTCCCAGC	0.644																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(724-726)cccfs		CCR4-NOT transcription complex, subunit 3																																				SO:0001589	frameshift_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649666_54649667insC	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.728dupC	19.37:g.54649670_54649670dupC	ENSP00000383954:p.Ser242fs					CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs	p.P242fs			O75175	CNOT3_HUMAN			8	2327_2328	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		242					Q9NZN7|Q9UF76	Frame_Shift_Ins	INS	ENST00000406403.1	37	c.724_725insC	CCDS12880.1																																																																																				0.644	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		7	94						7	94	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55341655	55341656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:55341655_55341656insC	ENST00000391728.4	+	9	1293_1294	c.1260_1261insC	c.(1261-1263)cccfs	p.P421fs	KIR3DL1_ENST00000358178.4_Frame_Shift_Ins_p.P326fs|KIR3DL1_ENST00000538269.1_Frame_Shift_Ins_p.P421fs|KIR3DL1_ENST00000326542.7_Frame_Shift_Ins_p.P404fs|KIR3DL1_ENST00000402254.2_Intron|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000541392.1_Frame_Shift_Ins_p.P404fs	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	421					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGCCCAAGACACCCCCTACAGA	0.51																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1258-1263)acccccfs		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1																																				SO:0001589	frameshift_variant	3811							g.chr19:55341655_55341656insC	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1265dupC	19.37:g.55341660_55341660dupC	ENSP00000375608:p.Pro421fs					KIR3DL1_ENST00000541392.1_Frame_Shift_Ins_p.TP403fs|KIR3DL1_ENST00000538269.1_Frame_Shift_Ins_p.TP420fs|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Frame_Shift_Ins_p.TP403fs|KIR3DL1_ENST00000358178.4_Frame_Shift_Ins_p.TP325fs	p.TP420fs	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	9	1293_1294	+								O43473|Q14946|Q16541	Frame_Shift_Ins	INS	ENST00000391728.4	37	c.1260_1261insC	CCDS42621.1																																																																																				0.510	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		7	1749						7	1749	---	---	---	---
DEFB132	400830	broad.mit.edu	37	20	239780	239781	+	Frame_Shift_Ins	INS	-	-	G	rs138201035	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:239780_239781insG	ENST00000382376.3	+	2	164_165	c.121_122insG	c.(121-123)tggfs	p.W41fs		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	41					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATGTTGCCACTGGGGGGAGACA	0.525																																						ENST00000382376.3																			0				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(121-123)gggfs		defensin, beta 132																																				SO:0001589	frameshift_variant	400830				defense response to bacterium	extracellular region		g.chr20:239780_239781insG	AF525932	CCDS12993.1	20p13	2009-12-04	2008-10-23		ENSG00000186458	ENSG00000186458		"""Defensins, beta"""	33806	protein-coding gene	gene with protein product						18416833	Standard	NM_207469		Approved	RP5-1103G7.6, DEFB32	uc002wdb.3	Q7Z7B7	OTTHUMG00000043061	ENST00000382376.3:c.127dupG	20.37:g.239786_239786dupG	ENSP00000371813:p.Trp41fs						p.G41fs	NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN			2	164_165	+			41					B2RP72|Q4QY40	Frame_Shift_Ins	INS	ENST00000382376.3	37	c.121_122insG	CCDS12993.1																																																																																				0.525	DEFB132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101365.1	NM_207469		9	252						9	252	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs					NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR	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		13	448						13	448	---	---	---	---
RSPO4	343637	broad.mit.edu	37	20	948762	948763	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:948762_948763insC	ENST00000217260.4	-	2	194_195	c.98_99insG	c.(97-99)ggcfs	p.G33fs	RSPO4_ENST00000400634.2_Frame_Shift_Ins_p.G33fs	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	33					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGTGCAGTTGCCCCCCAGGCC	0.594																																						ENST00000217260.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7	GRCh37	CI065851	RSPO4	I		c.(97-99)gaafs		R-spondin 4																																				SO:0001589	frameshift_variant	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:948762_948763insC	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.99dupG	20.37:g.948768_948768dupC	ENSP00000217260:p.Gly33fs					RSPO4_ENST00000400634.2_Frame_Shift_Ins_p.E33fs	p.E33fs	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN			2	194_195	-			33					A2A2I6|Q9UGB2	Frame_Shift_Ins	INS	ENST00000217260.4	37	c.98_99insG	CCDS42846.1																																																																																				0.594	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		10	718						10	718	---	---	---	---
NSFL1C	55968	broad.mit.edu	37	20	1426464	1426465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:1426464_1426465insG	ENST00000216879.4	-	8	1663_1664	c.796_797insC	c.(796-798)cagfs	p.Q266fs	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.Q235fs|NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.Q268fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.Q268fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.Q155fs	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	266						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.51																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(796-798)ggtfs		NSFL1 (p97) cofactor (p47)																																				SO:0001589	frameshift_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1426464_1426465insG	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.797dupC	20.37:g.1426470_1426470dupG	ENSP00000216879:p.Gln266fs					NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs	p.G266fs	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			8	1663_1664	-			266					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Frame_Shift_Ins	INS	ENST00000216879.4	37	c.796_797insC	CCDS13015.1																																																																																				0.510	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		13	474						13	474	---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)gggcccfs	p.P573fs	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	573					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1714-1719)ggcccafs		FAST kinase domains 5			,,	6,4256		0,6,2125					,,	3.8	1.0			69	7,8247		0,7,4120	no	intron,frameshift,intron	UBOX5,FASTKD5	NM_199415.1,NM_021826.4,NM_014948.2	,,	0,13,6245	A1A1,A1R,RR		0.0848,0.1408,0.1039	,,	,,		13,12503				SO:0001589	frameshift_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128000_3128001insC	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1717dupG	20.37:g.3128007_3128007dupC	ENSP00000369618:p.Pro573fs					UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.GP572fs	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	2037_2038	-			572					Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Ins	INS	ENST00000380266.3	37	c.1716_1717insG	CCDS13048.1																																																																																				0.436	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		8	205						8	205	---	---	---	---
ISM1	140862	broad.mit.edu	37	20	13260474	13260475	+	Frame_Shift_Ins	INS	-	-	C	rs184602094|rs538119716	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:13260474_13260475insC	ENST00000262487.4	+	3	578_579	c.572_573insC	c.(571-576)aaccccfs	p.NP191fs	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	191						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AACTTCCTCAACCCCCCCAGGG	0.554																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(571-573)accfs		isthmin 1, angiogenesis inhibitor																																				SO:0001589	frameshift_variant	140862					extracellular region		g.chr20:13260474_13260475insC	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.579dupC	20.37:g.13260481_13260481dupC	ENSP00000262487:p.Asn191fs					TASP1_ENST00000539805.1_Intron	p.T191fs	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			3	578_579	+			191					Q8WVH9	Frame_Shift_Ins	INS	ENST00000262487.4	37	c.572_573insC	CCDS46579.1																																																																																				0.554	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			14	307						14	307	---	---	---	---
PLAGL2	5326	broad.mit.edu	37	20	30789951	30789952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:30789951_30789952insG	ENST00000246229.4	-	2	294_295	c.30_31insC	c.(28-33)ccctggfs	p.W11fs		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	11					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTGAATCCAGGGGGGGACGC	0.559																																					Colon(163;15 1893 11280 16306 47518)	ENST00000246229.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(28-33)ccggatfs		pleiomorphic adenoma gene-like 2																																				SO:0001589	frameshift_variant	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30789951_30789952insG		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.31dupC	20.37:g.30789958_30789958dupG	ENSP00000246229:p.Trp11fs						p.D11fs	NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	294_295	-			11					A8K8T5|E1P5M3|Q92584	Frame_Shift_Ins	INS	ENST00000246229.4	37	c.30_31insC	CCDS13197.1																																																																																				0.559	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		10	170						10	170	---	---	---	---
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:34618503_34618504insC	ENST00000373973.3	+	12	1837_1838	c.1664_1665insC	c.(1663-1668)ctccccfs	p.LP555fs	CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.LP551fs|CNBD2_ENST00000538900.1_3'UTR			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	555																	CAGAAATACCTCCCCCCATTGA	0.455																																						ENST00000373973.3																			0											c.(1663-1665)cccfs		cyclic nucleotide binding domain containing 2																																				SO:0001589	frameshift_variant	140894							g.chr20:34618503_34618504insC	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1670dupC	20.37:g.34618509_34618509dupC	ENSP00000363084:p.Leu555fs					CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs	p.P555fs							12	1837_1838	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Frame_Shift_Ins	INS	ENST00000373973.3	37	c.1664_1665insC																																																																																					0.455	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		12	1009						12	1009	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																						ENST00000262879.6																			1	Insertion - Frameshift(1)	p.H382fs*2(1)	lung(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1135-1137)cccfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146232_37146233insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs					RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs	p.P379fs			Q86X10	RLGPB_HUMAN			8	1419_1420	+			379					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.1135_1136insC	CCDS13305.1																																																																																				0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		7	107						7	107	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C	rs554789813|rs559175371	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(625-627)cccfs	p.P209fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	209					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.54																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(622-627)tgccccfs		lipin 3																																				SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977798_39977799insC	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.631dupC	20.37:g.39977805_39977805dupC	ENSP00000362354:p.Pro209fs						p.CP208fs	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			5	715_716	+		Myeloproliferative disorder(115;0.000739)	208					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Ins	INS	ENST00000373257.3	37	c.624_625insC	CCDS33469.1																																																																																				0.540	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		11	151						11	151	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)cccaatfs	p.N103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535																																					GBM(64;162 1089 31780 33427 34538)	ENST00000338380.2																			0				lung(3)|ovary(1)	4						c.(304-309)ccatttfs		secretory leukocyte peptidase inhibitor																																				SO:0001589	frameshift_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43881730_43881731insG	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.307dupC	20.37:g.43881737_43881737dupG	ENSP00000342082:p.Asn103fs						p.F103fs	NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN			3	326_327	-		Myeloproliferative disorder(115;0.0122)	103			Elastase inhibitory domain.|WAP 2.		B2R5H8|P07757	Frame_Shift_Ins	INS	ENST00000338380.2	37	c.306_307insC	CCDS13347.1																																																																																				0.535	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			19	272						19	272	---	---	---	---
WFDC3	140686	broad.mit.edu	37	20	44404105	44404106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:44404105_44404106insG	ENST00000243938.4	-	6	712_713	c.629_630insC	c.(628-630)ccafs	p.P210fs	WFDC3_ENST00000372632.2_Frame_Shift_Ins_p.P116fs|WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372630.2_Frame_Shift_Ins_p.P73fs	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	210						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TGGTCAGTTTTGGGGGCAGGAC	0.48																																						ENST00000243938.4																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(628-630)caafs		WAP four-disulfide core domain 3																																				SO:0001589	frameshift_variant	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44404105_44404106insG	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.630dupC	20.37:g.44404110_44404110dupG	ENSP00000243938:p.Pro210fs					WFDC3_ENST00000372630.2_Frame_Shift_Ins_p.Q73fs|WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372632.2_Frame_Shift_Ins_p.Q116fs	p.Q210fs	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN			6	712_713	-		Myeloproliferative disorder(115;0.0122)	210					A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Frame_Shift_Ins	INS	ENST00000243938.4	37	c.629_630insC	CCDS33478.1																																																																																				0.480	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			9	889						9	889	---	---	---	---
NCOA5	57727	broad.mit.edu	37	20	44691403	44691404	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:44691403_44691404insG	ENST00000290231.6	-	8	1439_1440	c.1275_1276insC	c.(1273-1278)cccaccfs	p.T426fs		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGCTGGGAGGTGGGGGGTGCAG	0.619																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1273-1278)cccctcfs		nuclear receptor coactivator 5																																				SO:0001589	frameshift_variant	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691403_44691404insG		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1276dupC	20.37:g.44691409_44691409dupG	ENSP00000290231:p.Thr426fs						p.L426fs	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			8	1439_1440	-		Myeloproliferative disorder(115;0.0122)	426					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Frame_Shift_Ins	INS	ENST00000290231.6	37	c.1275_1276insC	CCDS13392.1																																																																																				0.619	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		9	513						9	513	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.A415fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.A50fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.A418fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	465					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604																																						ENST00000279027.4																			1	Substitution - coding silent(1)	p.P464P(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1390-1395)ccccctfs		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194969_45194970insG	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1393dupC	20.37:g.45194975_45194975dupG	ENSP00000279027:p.Ala465fs					SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs	p.PP464fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			11	1410_1411	-		Myeloproliferative disorder(115;0.0122)	464					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Frame_Shift_Ins	INS	ENST00000279027.4	37	c.1392_1393insC	CCDS13400.1																																																																																				0.604	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			20	865						20	865	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					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)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						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.(2323-2328)ccaaagfs		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.chr20:47989771_47989772insG	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.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs						p.PK775fs	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	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		37	775						37	775	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989890	47989891	+	Frame_Shift_Ins	INS	-	-	G	rs151175979		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		8	142						8	142	---	---	---	---
DPM1	8813	broad.mit.edu	37	20	49576707	49576708	+	5'Flank	INS	-	-	G	rs142791519		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:49576707_49576708insG	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Frame_Shift_Ins_p.VG443fs|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CGGGATGTTGTGGGGGGCCTCA	0.475																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(1327-1329)gggfs		molybdenum cofactor synthesis 3																																				SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576707_49576708insG	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576713_49576713dupG	Exception_encountered						p.G443fs	NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN			1	1345_1346	+			443			Rhodanese.		O15157|Q6IB78|Q96HK0	Frame_Shift_Ins	INS	ENST00000371588.5	37	c.1328_1329insG	CCDS13434.1																																																																																				0.475	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		7	414						7	414	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)gttfs	p.V995fs	SALL4_ENST00000395997.3_Frame_Shift_Ins_p.V558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.V218fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2983-2985)tccfs		spalt-like transcription factor 4																																				SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50400982_50400983insC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2984dupG	20.37:g.50400989_50400989dupC	ENSP00000217086:p.Val995fs					SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs|SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs	p.S995fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			4	3094_3095	-			995					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Ins	INS	ENST00000217086.4	37	c.2983_2984insG	CCDS13438.1																																																																																				0.559	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			13	174						13	174	---	---	---	---
C20orf85	128602	broad.mit.edu	37	20	56735726	56735727	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:56735726_56735727insC	ENST00000371168.3	+	4	323_324	c.262_263insC	c.(262-264)tccfs	p.S88fs		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	88										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GGTCTTTCCATCCCCCCCAGTC	0.579																																						ENST00000371168.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13						c.(262-264)cccfs		chromosome 20 open reading frame 85				5,4259		0,5,2127						5.1	0.2		dbSNP_126	44	5,8249		0,5,4122	no	frameshift	C20orf85	NM_178456.2		0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799				10,12508				SO:0001589	frameshift_variant	128602							g.chr20:56735726_56735727insC	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.269dupC	20.37:g.56735733_56735733dupC	ENSP00000360210:p.Ser88fs						p.P88fs	NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		4	323_324	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		88						Frame_Shift_Ins	INS	ENST00000371168.3	37	c.262_263insC	CCDS13465.1																																																																																				0.579	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		10	73						10	73	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-540)caccccfs	p.HP179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.HP167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.HP87fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(535-537)cccfs		oxysterol binding protein-like 2			,	18,4246		0,18,2114					,	4.9	1.0			111	7,8247		0,7,4120	no	frameshift,frameshift	OSBPL2	NM_144498.1,NM_014835.2	,	0,25,6234	A1A1,A1R,RR		0.0848,0.4221,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	9885				lipid transport		lipid binding	g.chr20:60854257_60854258insC	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.543dupC	20.37:g.60854264_60854264dupC	ENSP00000316649:p.His179fs					OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs	p.P179fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	738_739	+	Breast(26;7.76e-09)		179					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Frame_Shift_Ins	INS	ENST00000313733.3	37	c.536_537insC	CCDS13495.1																																																																																				0.465	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		20	167						20	167	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37597905	37597906	+	Frame_Shift_Ins	INS	-	-	C	rs374472573		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr21:37597905_37597906insC	ENST00000399151.3	+	12	1498_1499	c.1413_1414insC	c.(1414-1416)cccfs	p.P472fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	472					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGTCAGCCCTCCCCCCACGGT	0.54																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1411-1416)ccccccfs		dopey family member 2																																				SO:0001589	frameshift_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37597905_37597906insC	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1419dupC	21.37:g.37597911_37597911dupC	ENSP00000382104:p.Pro472fs						p.PP471fs	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			12	1498_1499	+			471					D3DSG5|Q6PJQ7|Q9UEZ3	Frame_Shift_Ins	INS	ENST00000399151.3	37	c.1413_1414insC	CCDS13643.1																																																																																				0.540	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		7	426						7	426	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)cccgaafs	p.E1093fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1093	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			1	Substitution - Missense(1)	p.E1093K(1)	skin(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3274-3279)ccaaaafs		Down syndrome cell adhesion molecule																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514614_41514615insG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3277dupC	21.37:g.41514621_41514621dupG	ENSP00000383303:p.Glu1093fs						p.PK1092fs	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			18	3753_3754	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1092			Fibronectin type-III 3.		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.3276_3277insC	CCDS42929.1																																																																																				0.406	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		12	326						12	326	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-681)agttttfs	p.SF226fs	PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.SF200fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.SF99fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.SF125fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.SF124fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.SF166fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.SF173fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.SF159fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.SF185fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.SF66fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.SF92fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.SF140fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TGTAAGTACAGTTTTTTGGATA	0.52																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(676-678)attfs		phosphodiesterase 9A																																				SO:0001589	frameshift_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44171249_44171250insT	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.683dupT	21.37:g.44171255_44171255dupT	ENSP00000291539:p.Ser226fs					PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs	p.I226fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			9	737_738	+			226					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Frame_Shift_Ins	INS	ENST00000291539.6	37	c.677_678insT	CCDS13690.1																																																																																				0.520	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			8	1166						8	1166	---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17690423	17690424	+	Frame_Shift_Ins	INS	-	-	C	rs199614299		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:17690423_17690424insC	ENST00000399839.1	-	2	414_415	c.144_145insG	c.(142-147)gggcggfs	p.R49fs	CECR1_ENST00000449907.2_Frame_Shift_Ins_p.R7fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.R49fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.R49fs	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	49	Dimerization.				adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AGCACCAGCCGCCCCCCCAGCC	0.54																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(142-147)ggggctfs		cat eye syndrome chromosome region, candidate 1																																				SO:0001589	frameshift_variant	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17690423_17690424insC	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.145dupG	22.37:g.17690430_17690430dupC	ENSP00000382733:p.Arg49fs					CECR1_ENST00000449907.2_Frame_Shift_Ins_p.A7fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.A49fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.A49fs	p.A49fs			Q9NZK5	CECR1_HUMAN			2	414_415	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	49			Dimerization.		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Frame_Shift_Ins	INS	ENST00000399839.1	37	c.144_145insG	CCDS13742.1																																																																																				0.540	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			7	66						7	66	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18020336	18020337	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:18020336_18020337insC	ENST00000400585.2	+	14	1680_1681	c.1242_1243insC	c.(1243-1245)cccfs	p.P415fs	CECR2_ENST00000400573.5_Frame_Shift_Ins_p.P556fs|CECR2_ENST00000262608.8_Frame_Shift_Ins_p.P557fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	598					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)		GAAAGTCGTTGCCCCCCACACG	0.639																																						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.(1666-1671)ttccccfs		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.chr22:18020336_18020337insC	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.1248dupC	22.37:g.18020342_18020342dupC	ENSP00000383428:p.Pro415fs					CECR2_ENST00000400585.2_Frame_Shift_Ins_p.FP414fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.FP555fs	p.FP556fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	13	1668_1669	+		all_epithelial(15;0.139)	597					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.1668_1669insC																																																																																					0.639	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		7	162						7	162	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:18022285_18022286insC	ENST00000400585.2	+	16	2402_2403	c.1964_1965insC	c.(1963-1968)gtccccfs	p.VP655fs	CECR2_ENST00000400573.5_Frame_Shift_Ins_p.VP796fs|CECR2_ENST00000262608.8_Frame_Shift_Ins_p.VP797fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2389-2391)gccfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022285_18022286insC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1971dupC	22.37:g.18022292_18022292dupC	ENSP00000383428:p.Val655fs					CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs	p.A797fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2390_2391	+		all_epithelial(15;0.139)	838					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2390_2391insC																																																																																					0.609	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		14	589						14	589	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022443	18022444	+	Frame_Shift_Ins	INS	-	-	G	rs540078259	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:18022443_18022444insG	ENST00000400585.2	+	16	2560_2561	c.2122_2123insG	c.(2122-2124)cggfs	p.R708fs	CECR2_ENST00000400573.5_Frame_Shift_Ins_p.R849fs|CECR2_ENST00000262608.8_Frame_Shift_Ins_p.R850fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	891					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAGGCTCTTCGGGGGGTGCAG	0.634																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2548-2550)gggfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022443_18022444insG	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2128dupG	22.37:g.18022449_18022449dupG	ENSP00000383428:p.Arg708fs					CECR2_ENST00000400585.2_Frame_Shift_Ins_p.G708fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.G849fs	p.G850fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2548_2549	+		all_epithelial(15;0.139)	891					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2548_2549insG																																																																																					0.634	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		16	457						16	457	---	---	---	---
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1053)gtggggfs	p.VG350fs	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.VG350fs|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CTGGAATACGTGGGGGGCATCA	0.54											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1048-1050)gggfs		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)																																			SO:0001589	frameshift_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21138419_21138420insG	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1055dupG	22.37:g.21138425_21138425dupG	ENSP00000215727:p.Val350fs		OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	746	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000572273.1_Intron	p.G350fs	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		3	1332_1333	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	350					B2RAI1|D3DX34|Q6IBZ5	Frame_Shift_Ins	INS	ENST00000215727.5	37	c.1049_1050insG	CCDS13783.1																																																																																				0.540	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		12	496						12	496	---	---	---	---
DRICH1	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-	rs199862187|rs567906771	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gatgcc>gcc	p.D171del		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433														4	0.000798722	0.0	0.0029	5008	,	,		25110	0.001		0.0	False		,,,				2504	0.001					ENST00000317749.5																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(511-516)gcc>g		chromosome 22 open reading frame 43				38,3770		2,34,1868						-0.9	0.0			110	95,7919		9,77,3921	no	coding	C22orf43	NM_016449.3		11,111,5789	A1A1,A1R,RR		1.1854,0.9979,1.125				133,11689				SO:0001651	inframe_deletion	51233							g.chr22:23959767_23959769delCAT																												ENST00000317749.5:c.512_514delATG	22.37:g.23959776_23959778delCAT	ENSP00000316137:p.Asp171del						p.DA171del	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN			7	809_811	-			171			Asp-rich.		Q6ICJ8|Q6P4I3|Q9NU31	In_Frame_Del	DEL	ENST00000317749.5	37	c.512_514delATG	CCDS42985.1																																																																																				0.433	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			12	551						12	551	---	---	---	---
RASL10A	10633	broad.mit.edu	37	22	29708272	29708273	+	IGR	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:29708272_29708273insG	ENST00000216101.6	-	0	1490				RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000406549.3_Frame_Shift_Ins_p.MG384fs|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						TGCCCTGGCATGGGGGGGCCAC	0.678																																						ENST00000406549.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1150-1152)aggfs		growth arrest-specific 2 like 1																																				SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708272_29708273insG	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708279_29708279dupG						GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR	p.R384fs			Q99501	GA2L1_HUMAN			6	1301_1302	+			393					Q49AU5|Q6PI03	Frame_Shift_Ins	INS	ENST00000216101.6	37	c.1151_1152insG	CCDS13854.1																																																																																				0.678	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			34	490						34	490	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						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						ACGTCTTATCTGGGGGGCAAGA	0.535																																						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.e9-2		THO complex 5			,,,	0,4264		0,0,2132					,,,	5.4	1.0			108	1,8253		0,1,4126	no	splice-3,splice-3,splice-3,splice-3	THOC5	NM_003678.4,NM_001002879.1,NM_001002878.1,NM_001002877.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001630	splice_region_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.chr22:29925230_29925231insG	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.848-2->C	22.37:g.29925236_29925236dupG						CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site		NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			9	970	-								O60839|Q9UPZ5	Splice_Site	INS	ENST00000490103.1	37		CCDS13859.1																																																																																				0.535	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Intron	7	823						7	823	---	---	---	---
TIMP3	7078	broad.mit.edu	37	22	33255323	33255324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:33255323_33255324insC	ENST00000266085.6	+	5	896_897	c.595_596insC	c.(595-597)gccfs	p.A199fs	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	199					cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGAGGATGGGCCCCCCCGGAT	0.604																																						ENST00000266085.6																			0				endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(595-597)cccfs		TIMP metallopeptidase inhibitor 3																																				SO:0001589	frameshift_variant	7078				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chr22:33255323_33255324insC		CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.602dupC	22.37:g.33255330_33255330dupC	ENSP00000266085:p.Ala199fs					SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	p.P199fs	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN			5	896_897	+			199					B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Frame_Shift_Ins	INS	ENST00000266085.6	37	c.595_596insC	CCDS13911.1																																																																																				0.604	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362		9	148						9	148	---	---	---	---
POLR2F	5435	broad.mit.edu	37	22	38363690	38363691	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:38363690_38363691insG	ENST00000442738.2	+	5	477_478	c.352_353insG	c.(352-354)tggfs	p.W118fs	POLR2F_ENST00000470701.1_Frame_Shift_Ins_p.W113fs|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	118					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CTATGAAGACTGGGGGGTGGAC	0.515																																						ENST00000442738.2																			0				breast(1)|urinary_tract(2)	3						c.(352-354)gggfs		polymerase (RNA) II (DNA directed) polypeptide F																																				SO:0001589	frameshift_variant	5435				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity	g.chr22:38363690_38363691insG		CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.358dupG	22.37:g.38363696_38363696dupG	ENSP00000403852:p.Trp118fs					POLR2F_ENST00000470701.1_Frame_Shift_Ins_p.G113fs|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000484894.1_Intron	p.G118fs	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN			5	477_478	+	Melanoma(58;0.045)		118					P41584|Q6IAY3	Frame_Shift_Ins	INS	ENST00000442738.2	37	c.352_353insG	CCDS13963.1																																																																																				0.515	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321570.1	NM_021974		8	351						8	351	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	163					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			1	Deletion - Frameshift(1)	p.G163fs*20(1)	lung(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(487-489)ggafs		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38895454_38895455insC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.489dupG	22.37:g.38895461_38895461dupC	ENSP00000380033:p.Gly163fs					DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	p.G163fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			3	587_588	-	Melanoma(58;0.0286)		84			Helicase ATP-binding.		B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Ins	INS	ENST00000396821.3	37	c.488_489insG	CCDS46706.1																																																																																				0.381	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		13	147						13	147	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)tccfs	p.S1234fs	TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.S430fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.S430fs|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.S1124fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.45																																						ENST00000454349.2																			0				breast(1)	1						c.(3700-3702)cccfs		trinucleotide repeat containing 6B																																				SO:0001589	frameshift_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40681766_40681767insC	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.3706dupC	22.37:g.40681772_40681772dupC	ENSP00000401946:p.Ser1234fs					TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000497559.1_3'UTR	p.P1234fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			12	3911_3912	+			1234					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Ins	INS	ENST00000454349.2	37	c.3700_3701insC	CCDS54533.1																																																																																				0.450	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				10	324						10	324	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_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		9	221						9	221	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		35	795						35	795	---	---	---	---
TTLL1	25809	broad.mit.edu	37	22	43471583	43471584	+	Frame_Shift_Ins	INS	-	-	C	rs79088468		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:43471583_43471584insC	ENST00000266254.7	-	3	249_250	c.9_10insG	c.(7-12)gggaaafs	p.K4fs	TTLL1_ENST00000331018.7_Frame_Shift_Ins_p.K4fs|TTLL1_ENST00000445824.1_Frame_Shift_Ins_p.K4fs	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	4	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CATTTTACTTTCCCTGCCATAA	0.401																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(7-12)ggaagtfs		tubulin tyrosine ligase-like family, member 1																																				SO:0001589	frameshift_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43471583_43471584insC	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.10dupG	22.37:g.43471586_43471586dupC	ENSP00000266254:p.Lys4fs					TTLL1_ENST00000445824.1_Frame_Shift_Ins_p.S4fs|TTLL1_ENST00000266254.7_Frame_Shift_Ins_p.S4fs	p.S4fs			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	3	249_250	-		Ovarian(80;0.0694)	4			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Frame_Shift_Ins	INS	ENST00000266254.7	37	c.9_10insG	CCDS14043.1																																																																																				0.401	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		8	1478						8	1478	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-93)caccccfs	p.HP30fs	TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.HP30fs	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(88-90)cccfs		TBC1 domain family, member 22A																																				SO:0001589	frameshift_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47188443_47188444insC	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.96dupC	22.37:g.47188450_47188450dupC	ENSP00000336724:p.His30fs					TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron	p.P30fs	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	2	255_256	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	30					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Frame_Shift_Ins	INS	ENST00000337137.4	37	c.89_90insC	CCDS14078.1																																																																																				0.569	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		25	497						25	497	---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2343335	2343336	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chrX:2343335_2343336insG	ENST00000334651.5	-	2	171_172	c.119_120insC	c.(118-120)ccafs	p.P40fs		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	40							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGTCAGGTCGTGGGGGGAAAAC	0.455																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(118-120)ccgfs		dehydrogenase/reductase (SDR family) X-linked																																				SO:0001589	frameshift_variant	207063						binding|oxidoreductase activity	g.chrX:2343335_2343336insG	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.120dupC	X.37:g.2343341_2343341dupG	ENSP00000334113:p.Pro40fs						p.P40fs	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			2	171_172	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	40					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Frame_Shift_Ins	INS	ENST00000334651.5	37	c.119_120insC	CCDS35195.1																																																																																				0.455	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		9	341						9	341	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(394-396)cccfs	p.P132fs	TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000378628.4_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					TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000449135.2_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		24	240						24	240	---	---	---	---
SLC9A7	84679	broad.mit.edu	37	X	46529118	46529118	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chrX:46529118delA	ENST00000328306.4	-	5	742	c.717delT	c.(715-717)attfs	p.I239fs		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	239					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GCTGTCCCATAATCTTCATGA	0.383																																					Pancreas(118;454 1696 1930 13865 39976)	ENST00000328306.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(715-717)atfs		solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7							101.0	87.0	91.0					X																	46529118		2203	4300	6503	SO:0001589	frameshift_variant	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46529118delA	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.717delT	X.37:g.46529118delA	ENSP00000330320:p.Ile239fs						p.I239fs	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN			5	742	-			239					O75827|Q5JXP9	Frame_Shift_Del	DEL	ENST00000328306.4	37	c.717delT	CCDS14269.1																																																																																				0.383	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		8	208						8	208	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	RNA	INS	-	-	G	rs41305745		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chrX:48159107_48159108insG	ENST00000608568.1	-	0	580					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.49																																						ENST00000376909.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						c.(424-426)cggfs																																								280660							g.chrX:48159107_48159108insG	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48159113_48159113dupG						SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs	p.R142fs							6	487_488	-									Frame_Shift_Ins	INS	ENST00000608568.1	37	c.425_426insC																																																																																					0.490	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		14	280						14	280	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		17	1983						17	1983	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cggfs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209462_48209463insG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.426dupC	X.37:g.48209468_48209468dupG	ENSP00000298396:p.Pro142fs					SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	p.R142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			6	477_478	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.425_426insC	CCDS14291.1																																																																																				0.495	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		9	436						9	436	---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	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		30	286						30	286	---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ccafs	p.P361fs	CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.P171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.P90fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked																													ENST00000374202.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15						c.(1081-1083)ctgfs		interleukin 2 receptor, gamma	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)																																			SO:0001589	frameshift_variant	3561	Severe Combined Immunodeficiency, X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327613_70327614insG	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1083dupC	X.37:g.70327620_70327620dupG	ENSP00000363318:p.Pro361fs					IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs	p.L361fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN			8	1173_1174	-	Renal(35;0.156)		361					Q5FC12	Frame_Shift_Ins	INS	ENST00000374202.2	37	c.1082_1083insC	CCDS14406.1																																																																																				0.584	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			7	64						7	64	---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100117691	100117692	+	Frame_Shift_Ins	INS	-	-	C	rs145552525	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chrX:100117691_100117692insC	ENST00000372966.3	-	5	660_661	c.455_456insG	c.(454-456)ggtfs	p.G152fs	NOX1_ENST00000217885.5_Frame_Shift_Ins_p.G152fs|NOX1_ENST00000372964.1_Frame_Shift_Ins_p.G152fs|NOX1_ENST00000372960.4_Frame_Shift_Ins_p.G115fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	152	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TTAGCCAAGAACCCCCCTTTTT	0.5																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(454-456)gtcfs		NADPH oxidase 1																																				SO:0001589	frameshift_variant	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117691_100117692insC	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.456dupG	X.37:g.100117697_100117697dupC	ENSP00000362057:p.Gly152fs					NOX1_ENST00000372960.4_Frame_Shift_Ins_p.V115fs|NOX1_ENST00000372964.1_Frame_Shift_Ins_p.V152fs|NOX1_ENST00000217885.5_Frame_Shift_Ins_p.V152fs	p.V152fs	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			5	660_661	-			152			Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Frame_Shift_Ins	INS	ENST00000372966.3	37	c.455_456insG	CCDS14474.1																																																																																				0.500	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		9	1066						9	1066	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129146962	129146963	+	Frame_Shift_Ins	INS	-	-	G	rs141901231	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chrX:129146962_129146963insG	ENST00000218147.7	+	4	411_412	c.214_215insG	c.(214-216)cggfs	p.R72fs	BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.R72fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.R72fs|BCORL1_ENST00000540052.1_Frame_Shift_Ins_p.R72fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	72					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGCAATGCCCGGGGGGCAGAC	0.569																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(214-216)gggfs		BCL6 corepressor-like 1																																				SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129146962_129146963insG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.220dupG	X.37:g.129146968_129146968dupG	ENSP00000218147:p.Arg72fs					BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.G72fs|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.G72fs	p.G72fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	258_259	+			72					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Ins	INS	ENST00000218147.7	37	c.214_215insG	CCDS14616.1																																																																																				0.569	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		13	416						13	416	---	---	---	---
NSDHL	50814	broad.mit.edu	37	X	152037406	152037407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chrX:152037406_152037407insC	ENST00000370274.3	+	8	1062_1063	c.868_869insC	c.(868-870)gccfs	p.A290fs	NSDHL_ENST00000440023.1_Frame_Shift_Ins_p.A290fs	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	290					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAATTATGAGGCCCCCAAGTAC	0.559																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(868-870)cccfs		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)																																			SO:0001589	frameshift_variant	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037406_152037407insC	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.873dupC	X.37:g.152037411_152037411dupC	ENSP00000359297:p.Ala290fs					NSDHL_ENST00000440023.1_Frame_Shift_Ins_p.P290fs	p.P290fs	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			8	1062_1063	+	Acute lymphoblastic leukemia(192;6.56e-05)		290					D3DWT6|O00344	Frame_Shift_Ins	INS	ENST00000370274.3	37	c.868_869insC	CCDS14717.1																																																																																				0.559	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		7	1649						7	1649	---	---	---	---
STPG1	90529	broad.mit.edu	37	1	24700193	24700194	+	Splice_Site	INS	-	-	G	rs538591348		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:24700193_24700194insG	ENST00000374409.1	-	6	823_824	c.569_570insC	c.(568-570)cca>ccCa	p.P190fs	STPG1_ENST00000440416.1_Splice_Site_p.P143fs|STPG1_ENST00000337248.4_Splice_Site_p.P190fs|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Splice_Site_p.P143fs	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	190					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCTGCTTACCTGGGGGAGGTCC	0.485																																						ENST00000374409.1																			0											c.e6+1		sperm-tail PG-rich repeat containing 1																																				SO:0001630	splice_region_variant	90529							g.chr1:24700193_24700194insG	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.571+1->C	1.37:g.24700198_24700198dupG						STPG1_ENST00000003583.8_Splice_Site_p.R143_splice|STPG1_ENST00000337248.4_Splice_Site_p.R190_splice|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Splice_Site_p.R143_splice	p.R190_splice	NM_001199012.1	NP_001185941.1					6	823_824	-								Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Splice_Site	INS	ENST00000374409.1	37	c.571_splice	CCDS55581.1																																																																																				0.485	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122	Frame_Shift_Ins	10	2473						10	2473	---	---	---	---
WASF2	10163	broad.mit.edu	37	1	27736340	27736340	+	Frame_Shift_Del	DEL	A	A	-	rs71584884		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:27736340delA	ENST00000430629.2	-	8	1400	c.1185delT	c.(1183-1185)cctfs	p.P400fs	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	400	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggaggagggggaggag	0.642																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(1183-1185)ccfs		WAS protein family, member 2							51.0	53.0	52.0					1																	27736340		2203	4300	6503	SO:0001589	frameshift_variant	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27736340delA	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1185delT	1.37:g.27736340delA	ENSP00000396211:p.Pro400fs					WASF2_ENST00000536657.1_Intron	p.P400fs	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	8	1400	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	400			Poly-Pro.		B4DZN0|O60794|Q9UDY7	Frame_Shift_Del	DEL	ENST00000430629.2	37	c.1185delT	CCDS304.1																																																																																				0.642	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		15	157						15	157	---	---	---	---
AZIN2	113451	broad.mit.edu	37	1	33583704	33583705	+	In_Frame_Ins	INS	-	-	TGG			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:33583704_33583705insTGG	ENST00000294517.6	+	11	1818_1819	c.1231_1232insTGG	c.(1231-1233)tcc>tTGGcc	p.411_411S>LA	ADC_ENST00000373443.3_In_Frame_Ins_p.411_411S>LA|ADC_ENST00000398167.1_In_Frame_Ins_p.431_431S>LA|ADC_ENST00000373441.1_In_Frame_Ins_p.431_431S>LA|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		411					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CTATGCCATGTCCCGGGTGGCC	0.579																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1231-1233)ccg>TGGccg		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)																																			SO:0001652	inframe_insertion	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583704_33583705insTGG																												Exception_encountered	1.37:g.33583704_33583705insTGG	ENSP00000294517:p.Ser411delinsLeuAla					ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_In_Frame_Ins_p.410_411insW|ADC_ENST00000398167.1_In_Frame_Ins_p.430_431insW|ADC_ENST00000373441.1_In_Frame_Ins_p.430_431insW	p.410_411insW	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			11	1818_1819	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	410					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	In_Frame_Ins	INS	ENST00000294517.6	37	c.1231_1232insTGG	CCDS375.1																																																																																				0.579	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			7	119						7	119	---	---	---	---
PTGFR	5737	broad.mit.edu	37	1	78958518	78958519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:78958518_78958519insT	ENST00000370757.3	+	2	327_328	c.90_91insT	c.(91-93)tttfs	p.F31fs	PTGFR_ENST00000370758.1_Frame_Shift_Ins_p.F31fs|PTGFR_ENST00000370756.3_Frame_Shift_Ins_p.F31fs	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	31					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GGCTTTCCGTATTTTTTTCAGT	0.45																																						ENST00000370756.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(88-93)gtttttfs		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)																																			SO:0001589	frameshift_variant	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958518_78958519insT	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.97dupT	1.37:g.78958525_78958525dupT	ENSP00000359793:p.Phe31fs					PTGFR_ENST00000370757.3_Frame_Shift_Ins_p.VF30fs|PTGFR_ENST00000370758.1_Frame_Shift_Ins_p.VF30fs	p.VF30fs	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	327_328	+			30					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Frame_Shift_Ins	INS	ENST00000370757.3	37	c.90_91insT	CCDS686.1																																																																																				0.450	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		17	1740						17	1740	---	---	---	---
PPM1J	333926	broad.mit.edu	37	1	113253630	113253631	+	Splice_Site	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:113253630_113253631insT	ENST00000309276.6	-	7	1284_1285	c.1109_1110insA	c.(1108-1110)aag>aaAg	p.K370fs	PPM1J_ENST00000359994.4_Splice_Site_p.K164fs|RP11-426L16.10_ENST00000471038.2_Intron|PPM1J_ENST00000464951.1_Splice_Site_p.K164fs|RP11-426L16.10_ENST00000606505.1_Splice_Site_p.G52fs	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	370	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAGTTTACCTTTTTGCCCTC	0.559																																						ENST00000464951.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.e8+1		protein phosphatase, Mg2+/Mn2+ dependent, 1J																																				SO:0001630	splice_region_variant	333926							g.chr1:113253630_113253631insT	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1110+1->A	1.37:g.113253635_113253635dupT						RP11-426L16.10_ENST00000471038.2_Intron|RP11-426L16.10_ENST00000606505.1_Splice_Site_p.L52_splice|PPM1J_ENST00000309276.6_Splice_Site_p.S370_splice|PPM1J_ENST00000359994.4_Splice_Site_p.S164_splice	p.S164_splice			Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1899_1900	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	370			PP2C-like.		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Splice_Site	INS	ENST00000309276.6	37	c.492_splice	CCDS855.2																																																																																				0.559	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167	Frame_Shift_Ins	8	1803						8	1803	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150917623	150917624	+	Intron	INS	-	-	G	rs587715611|rs587751384|rs186820437	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	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_ENST00000271640.5_Intron|SETDB1_ENST00000459773.1_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			10	91						10	91	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152282888	152282893	+	In_Frame_Del	DEL	GTCCAC	GTCCAC	-	rs143101193		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:152282888_152282893delGTCCAC	ENST00000368799.1	-	3	4504_4509	c.4469_4474delGTGGAC	c.(4468-4476)cgtggacac>cac	p.RG1490del	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1490	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)			GACCCCGGGTGTCCACGAATGGTGTC	0.583									Ichthyosis																													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.(4468-4476)cac>c		filaggrin																																				SO:0001651	inframe_deletion	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.chr1:152282888_152282893delGTCCAC	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.4469_4474delGTGGAC	1.37:g.152282888_152282893delGTCCAC	ENSP00000357789:p.Arg1490_Gly1491del					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.RGH1490del	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4504_4509	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1490			Ser-rich.		Q01720|Q5T583|Q9UC71	In_Frame_Del	DEL	ENST00000368799.1	37	c.4469_4474delGTGGAC	CCDS30860.1																																																																																				0.583	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		14	631						14	631	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152283772	152283772	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:152283772delT	ENST00000368799.1	-	3	3625	c.3590delA	c.(3589-3591)cacfs	p.H1197fs	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	1197	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)			GGATGTGGTGTGGCTGTGATG	0.562									Ichthyosis																													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.(3589-3591)ccfs		filaggrin							319.0	326.0	324.0					1																	152283772		2203	4298	6501	SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283772delT	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.3590delA	1.37:g.152283772delT	ENSP00000357789:p.His1197fs					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H1197fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3625	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1197			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.3590delA	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		33	502						33	502	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152283860	152283865	+	In_Frame_Del	DEL	GTGCAC	GTGCAC	-	rs58001094	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:152283860_152283865delGTGCAC	ENST00000368799.1	-	3	3532_3537	c.3497_3502delGTGCAC	c.(3496-3504)cgtgcacac>cac	p.RA1166del	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	1166	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)			GACCCCGGGTGTGCACGAATGGTGTC	0.602									Ichthyosis																													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.(3496-3504)cac>c		filaggrin																																				SO:0001651	inframe_deletion	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.chr1:152283860_152283865delGTGCAC	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.3497_3502delGTGCAC	1.37:g.152283860_152283865delGTGCAC	ENSP00000357789:p.Arg1166_Ala1167del					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.RAH1166del	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3532_3537	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1166			Ser-rich.		Q01720|Q5T583|Q9UC71	In_Frame_Del	DEL	ENST00000368799.1	37	c.3497_3502delGTGCAC	CCDS30860.1																																																																																				0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		11	575						11	575	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156628493	156628494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:156628493_156628494insC	ENST00000329117.5	+	13	2932_2933	c.2596_2597insC	c.(2596-2598)gccfs	p.A866fs	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	866	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGTTGGGAGGCCCCCCAGATC	0.604																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2596-2598)cccfs		brevican																																				SO:0001589	frameshift_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156628493_156628494insC	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2602dupC	1.37:g.156628499_156628499dupC	ENSP00000331210:p.Ala866fs					BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	p.P866fs	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			13	2932_2933	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		866			Sushi.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Frame_Shift_Ins	INS	ENST00000329117.5	37	c.2596_2597insC	CCDS1149.1																																																																																				0.604	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		8	273						8	273	---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182554908	182554909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:182554908_182554909insC	ENST00000367559.3	-	2	1286_1287	c.1033_1034insG	c.(1033-1035)gcafs	p.A345fs	RNASEL_ENST00000444138.1_Frame_Shift_Ins_p.A345fs|RNASEL_ENST00000539397.1_Frame_Shift_Ins_p.A345fs	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	345					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CTTCAGGGCTGCCCCCCAGTGT	0.455																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(1033-1035)agcfs		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)																																				SO:0001589	frameshift_variant	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182554908_182554909insC	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1034dupG	1.37:g.182554914_182554914dupC	ENSP00000356530:p.Ala345fs					RNASEL_ENST00000444138.1_Frame_Shift_Ins_p.S345fs|RNASEL_ENST00000539397.1_Frame_Shift_Ins_p.S345fs	p.S345fs	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	1286_1287	-			345					Q5W0L2|Q6AI46	Frame_Shift_Ins	INS	ENST00000367559.3	37	c.1033_1034insG	CCDS1347.1																																																																																				0.455	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		8	255						8	255	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203668728	203668729	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:203668728_203668729insG	ENST00000357681.5	+	4	1655_1656	c.532_533insG	c.(532-534)cggfs	p.R178fs	ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.R178fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.R178fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.R178fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.R178fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	178					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGCAATTCCGGGGGCTGCAG	0.51																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(532-534)gggfs		ATPase, Ca++ transporting, plasma membrane 4																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203668728_203668729insG	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.537dupG	1.37:g.203668733_203668733dupG	ENSP00000350310:p.Arg178fs					ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.G178fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.G178fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.G178fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.G178fs	p.G178fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		4	1655_1656	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		178					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.532_533insG	CCDS1440.1																																																																																				0.510	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		9	908						9	908	---	---	---	---
SUSD4	55061	broad.mit.edu	37	1	223395558	223395559	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr1:223395558_223395559insC	ENST00000343846.3	-	8	2081_2082	c.1448_1449insG	c.(1447-1449)attfs	p.I483fs	SUSD4_ENST00000366878.4_Frame_Shift_Ins_p.I483fs|SUSD4_ENST00000454695.2_Frame_Shift_Ins_p.I323fs|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Intron|SUSD4_ENST00000484758.2_Frame_Shift_Ins_p.I414fs			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	483						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CCATTAGAGGAATCTCTGTAAA	0.406																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(1447-1449)accfs		sushi domain containing 4																																				SO:0001589	frameshift_variant	55061					integral to membrane		g.chr1:223395558_223395559insC	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1448_1449insG	1.37:g.223395558_223395559insC	ENSP00000344219:p.Ile483fs					SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_Frame_Shift_Ins_p.T323fs|SUSD4_ENST00000366878.4_Frame_Shift_Ins_p.T483fs	p.T483fs			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	8	2081_2082	-			483					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Frame_Shift_Ins	INS	ENST00000343846.3	37	c.1448_1449insG	CCDS41471.1																																																																																				0.406	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		64	599						64	599	---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27478187	27478188	+	Frame_Shift_Ins	INS	-	-	G	rs200706586	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:27478187_27478188insG	ENST00000233535.4	-	8	1511_1512	c.1159_1160insC	c.(1159-1161)caafs	p.Q387fs	SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.Q382fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	387					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTCAGGCTTGGGGGGGTTCC	0.658																																						ENST00000233535.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(1159-1161)agcfs		solute carrier family 30 (zinc transporter), member 3																																				SO:0001589	frameshift_variant	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27478187_27478188insG	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.1160dupC	2.37:g.27478194_27478194dupG	ENSP00000233535:p.Gln387fs					SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.S382fs	p.S387fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN			8	1511_1512	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		387					Q8TC03	Frame_Shift_Ins	INS	ENST00000233535.4	37	c.1159_1160insC	CCDS1743.1																																																																																				0.658	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			20	287						20	287	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31598344	31598345	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:31598344_31598345delCA	ENST00000379416.3	-	15	1551_1552	c.1503_1504delTG	c.(1501-1506)cctggtfs	p.G503fs		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	503					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	ACCATGCCACCAGGGGCATCGG	0.604																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(1501-1506)ccgtfs		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31598344_31598345delCA	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1503_1504delTG	2.37:g.31598344_31598345delCA	ENSP00000368727:p.Gly503fs						p.PG501fs	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			15	1551_1552	-	Acute lymphoblastic leukemia(172;0.155)		501					Q16681|Q16712|Q4PJ16	Frame_Shift_Del	DEL	ENST00000379416.3	37	c.1503_1504delTG	CCDS1775.1																																																																																				0.604	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		17	110						17	110	---	---	---	---
B3GNT2	10678	broad.mit.edu	37	2	62449597	62449598	+	Frame_Shift_Ins	INS	-	-	G	rs530600752	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:62449597_62449598insG	ENST00000301998.4	+	2	494_495	c.242_243insG	c.(241-246)acggggfs	p.TG81fs	B3GNT2_ENST00000405767.1_Frame_Shift_Ins_p.TG81fs	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	81					axon guidance (GO:0007411)|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)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.T81T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			ACCAACCAGACGGGGGAGGCGG	0.554																																						ENST00000301998.4																			1	Substitution - coding silent(1)	p.T81T(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(241-243)aggfs		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2																																				SO:0001589	frameshift_variant	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449597_62449598insG	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.247dupG	2.37:g.62449602_62449602dupG	ENSP00000305595:p.Thr81fs					B3GNT2_ENST00000405767.1_Frame_Shift_Ins_p.R81fs	p.R81fs	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	494_495	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		81					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Frame_Shift_Ins	INS	ENST00000301998.4	37	c.242_243insG	CCDS1870.1																																																																																				0.554	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		7	2316						7	2316	---	---	---	---
PLEK	5341	broad.mit.edu	37	2	68622886	68622887	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:68622886_68622887insC	ENST00000234313.7	+	9	1170_1171	c.991_992insC	c.(991-993)accfs	p.T331fs		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	331	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GCAAGCAGCCACCCCCAAGGAG	0.54																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(991-993)cccfs		pleckstrin																																				SO:0001589	frameshift_variant	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68622886_68622887insC	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.996dupC	2.37:g.68622891_68622891dupC	ENSP00000234313:p.Thr331fs						p.P331fs	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	9	1170_1171	+		Ovarian(717;0.0129)	331			PH 2.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Frame_Shift_Ins	INS	ENST00000234313.7	37	c.991_992insC	CCDS1887.1																																																																																				0.540	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		8	740						8	740	---	---	---	---
NAT8	9027	broad.mit.edu	37	2	73868608	73868609	+	Frame_Shift_Ins	INS	-	-	C	rs201919330	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:73868608_73868609insC	ENST00000272425.3	-	2	296_297	c.147_148insG	c.(145-150)gggcccfs	p.P50fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AGGGCGAGGGGCCCCCCAAGTA	0.614																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(145-150)ggccctfs		N-acetyltransferase 8 (GCN5-related, putative)																																				SO:0001589	frameshift_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868608_73868609insC	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.148dupG	2.37:g.73868614_73868614dupC	ENSP00000272425:p.Pro50fs						p.GP49fs	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	296_297	-			49						Frame_Shift_Ins	INS	ENST00000272425.3	37	c.147_148insG	CCDS1926.1																																																																																				0.614	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		8	593						8	593	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			645784							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	6						3	6	---	---	---	---
ATG16L1	55054	broad.mit.edu	37	2	234171866	234171866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr2:234171866delC	ENST00000392017.4	+	3	557	c.300delC	c.(298-300)cacfs	p.H100fs	ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392020.4_Frame_Shift_Del_p.H100fs|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392018.1_Frame_Shift_Del_p.H100fs	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	100					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		CTGAATTACACAAGAAACGTG	0.502																																						ENST00000392017.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25						c.(298-300)cafs		autophagy related 16-like 1 (S. cerevisiae)							138.0	106.0	117.0					2																	234171866		2203	4300	6503	SO:0001589	frameshift_variant	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234171866delC	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.300delC	2.37:g.234171866delC	ENSP00000375872:p.His100fs					ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000392020.4_Frame_Shift_Del_p.H100fs|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392018.1_Frame_Shift_Del_p.H100fs	p.H100fs	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	3	557	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	100					A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Frame_Shift_Del	DEL	ENST00000392017.4	37	c.300delC	CCDS2503.2																																																																																				0.502	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		10	44						10	44	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10188268	10188269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:10188268_10188269insC	ENST00000256474.2	+	2	1251_1252	c.411_412insC	c.(412-414)ccafs	p.P138fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	138	Involved in binding to CCT complex.				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.P138fs*1(2)		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)		AATTATTTGTGCCATCTCTCAA	0.421		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"""		2	Deletion - Frameshift(2)	p.P138fs*1(2)	kidney(2)	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.(409-414)gtcatcfs		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase																																				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.chr3:10188268_10188269insC	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.413dupC	3.37:g.10188270_10188270dupC	ENSP00000256474:p.Pro138fs					VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	p.I138fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1251_1252	+			138			Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	c.411_412insC	CCDS2597.1																																																																																				0.421	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		78	139						78	139	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14538073	14538073	+	RNA	DEL	A	A	-	rs11333211	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:14538073delA	ENST00000273083.3	-	0	2744							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGATGCCTGCAAGGAACACGG	0.607													A|AA|A|insertion	2914	0.581869	0.5598	0.5749	5008	,	,		21109	0.6458		0.4006	False		,,,				2504	0.7372					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2				2072,1830		611,850,490	16.0	20.0	18.0			-9.8	0.0	3	dbSNP_131	28	3411,4601		756,1899,1351	no	intron	GRIP2	NM_001080423.2		1367,2749,1841	A1A1,A1R,RR		42.5736,46.899,46.0215			14538073	5483,6431	1773	3875	5648			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14538073delA	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14538073delA										Q9C0E4	GRIP2_HUMAN			0	2744	-								Q8TEH9|Q9H7H3	RNA	DEL	ENST00000273083.3	37																																																																																						0.607	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		8	146						8	146	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62459994	62459995	+	Splice_Site	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:62459994_62459995insA	ENST00000383710.4	-	24	3679_3680	c.3330_3331insT	c.(3328-3333)agaacc>agaTacc	p.T1111fs	CADPS_ENST00000357948.3_Splice_Site_p.T1032fs|CADPS_ENST00000283269.9_Splice_Site_p.T1072fs	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1111	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCAATCCTGGTTCTATTAAAAC	0.396																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.e24-1		Ca++-dependent secretion activator																																				SO:0001630	splice_region_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62459994_62459995insA	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3330-1->T	3.37:g.62459994_62459995insA						CADPS_ENST00000283269.9_Splice_Site_p.Q1072_splice|CADPS_ENST00000357948.3_Splice_Site_p.Q1032_splice	p.Q1111_splice	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	24	3679_3680	-		Lung SC(41;0.0452)	1111			Interaction with DRD2.|MHD1.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Splice_Site	INS	ENST00000383710.4	37	c.3329_splice	CCDS46858.1																																																																																				0.396	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	Frame_Shift_Ins	24	144						24	144	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggafs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(493-495)ggtfs		vestigial like 3 (Drosophila)																																				SO:0001589	frameshift_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018182_87018183insC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.495dupG	3.37:g.87018188_87018188dupC	ENSP00000381436:p.Gly165fs					VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	857_858	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	165						Frame_Shift_Ins	INS	ENST00000398399.2	37	c.494_495insG	CCDS43110.1																																																																																				0.579	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		9	325						9	325	---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129183576	129183577	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:129183576_129183577insG	ENST00000348417.2	+	7	592_593	c.515_516insG	c.(514-519)ccggggfs	p.PG172fs	IFT122_ENST00000504021.1_Frame_Shift_Ins_p.PG125fs|IFT122_ENST00000296266.3_Frame_Shift_Ins_p.PG223fs|IFT122_ENST00000431818.2_Frame_Shift_Ins_p.PG22fs|IFT122_ENST00000349441.2_Frame_Shift_Ins_p.PG120fs|IFT122_ENST00000507564.1_Frame_Shift_Ins_p.PG223fs|IFT122_ENST00000440957.2_Frame_Shift_Ins_p.PG22fs|IFT122_ENST00000347300.2_Frame_Shift_Ins_p.PG172fs	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	172					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.P223P(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATCGAGCGGCCGGGGGGCTCCC	0.505																																						ENST00000296266.3																			1	Substitution - coding silent(1)	p.P223P(1)	large_intestine(1)	breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(667-669)cggfs		intraflagellar transport 122 homolog (Chlamydomonas)																																				SO:0001589	frameshift_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129183576_129183577insG	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.521dupG	3.37:g.129183582_129183582dupG	ENSP00000324005:p.Pro172fs					IFT122_ENST00000507564.1_Frame_Shift_Ins_p.R223fs|IFT122_ENST00000440957.2_Frame_Shift_Ins_p.R22fs|IFT122_ENST00000431818.2_Frame_Shift_Ins_p.R22fs|IFT122_ENST00000348417.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000347300.2_Frame_Shift_Ins_p.R172fs|IFT122_ENST00000504021.1_Frame_Shift_Ins_p.R125fs|IFT122_ENST00000349441.2_Frame_Shift_Ins_p.R120fs	p.R223fs	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			8	860_861	+			172					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Frame_Shift_Ins	INS	ENST00000348417.2	37	c.668_669insG	CCDS3061.1																																																																																				0.505	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		8	324						8	324	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129324871	129324872	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:129324871_129324872insC	ENST00000324093.4	-	1	789_790	c.611_612insG	c.(610-612)ggcfs	p.G204fs	PLXND1_ENST00000393239.1_Frame_Shift_Ins_p.G204fs	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	204	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCAGGCGGCTgccccccgcgcc	0.708																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(610-612)gagfs		plexin D1																																				SO:0001589	frameshift_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129324871_129324872insC	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.612dupG	3.37:g.129324877_129324877dupC	ENSP00000317128:p.Gly204fs					PLXND1_ENST00000324093.4_Frame_Shift_Ins_p.E204fs	p.E204fs			Q9Y4D7	PLXD1_HUMAN			1	789_790	-			204			Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Frame_Shift_Ins	INS	ENST00000324093.4	37	c.611_612insG	CCDS33854.1																																																																																				0.708	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		2	4						2	4	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130281934	130281935	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:130281934_130281935insT	ENST00000358511.6	+	2	118_119	c.87_88insT	c.(88-90)tttfs	p.F30fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.F30fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	30	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGATGTTGTGTTTTTGGTGGA	0.431																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(85-90)gtttttfs		collagen, type VI, alpha 6																																				SO:0001589	frameshift_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130281934_130281935insT	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.92dupT	3.37:g.130281939_130281939dupT	ENSP00000351310:p.Phe30fs					COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.VF29fs	p.VF29fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			2	118_119	+			29			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Ins	INS	ENST00000358511.6	37	c.87_88insT	CCDS46911.1																																																																																				0.431	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		8	723						8	723	---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136141378	136141379	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:136141378_136141379delAC	ENST00000383202.2	-	19	2166_2167	c.1910_1911delGT	c.(1909-1911)agtfs	p.S637fs	STAG1_ENST00000434713.2_Frame_Shift_Del_p.S411fs|STAG1_ENST00000236698.5_Frame_Shift_Del_p.S637fs|STAG1_ENST00000536929.1_Frame_Shift_Del_p.S221fs	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	637					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TATAGGTTTTACTGCAGGCTTC	0.371																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1909-1911)afs		stromal antigen 1																																				SO:0001589	frameshift_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136141378_136141379delAC	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1910_1911delGT	3.37:g.136141378_136141379delAC	ENSP00000372689:p.Ser637fs					STAG1_ENST00000434713.2_Frame_Shift_Del_p.S411fs|STAG1_ENST00000536929.1_Frame_Shift_Del_p.S221fs|STAG1_ENST00000236698.5_Frame_Shift_Del_p.S637fs	p.S637fs	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			19	2166_2167	-			637					O00539|Q6P275	Frame_Shift_Del	DEL	ENST00000383202.2	37	c.1910_1911delGT	CCDS3090.1																																																																																				0.371	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		33	108						33	108	---	---	---	---
KPNA4	3840	broad.mit.edu	37	3	160245789	160245789	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:160245789delG	ENST00000334256.4	-	8	813	c.508delC	c.(508-510)catfs	p.H170fs		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	170	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACATTCTGATGGGGTGAATGG	0.348																																						ENST00000334256.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22						c.(508-510)atfs		karyopherin alpha 4 (importin alpha 3)							66.0	69.0	68.0					3																	160245789		2203	4300	6503	SO:0001589	frameshift_variant	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160245789delG	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.508delC	3.37:g.160245789delG	ENSP00000334373:p.His170fs						p.H170fs	NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		8	813	-			170			NLS binding site (major) (By similarity).		A8K4S6|D3DNM2|O00190	Frame_Shift_Del	DEL	ENST00000334256.4	37	c.508delC	CCDS3191.1																																																																																				0.348	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		48	51						48	51	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165547909	165547915	+	Frame_Shift_Del	DEL	CTTCATT	CTTCATT	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:165547909_165547915delCTTCATT	ENST00000264381.3	-	2	1073_1079	c.907_913delAATGAAG	c.(907-915)aatgaagcafs	p.NEA303fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	303					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	ACAACAAATGCTTCATTCAGAAGAATT	0.401																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(907-915)cafs		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)																																			SO:0001589	frameshift_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547909_165547915delCTTCATT	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.907_913delAATGAAG	3.37:g.165547909_165547915delCTTCATT	ENSP00000264381:p.Asn303fs					BCHE_ENST00000540653.1_Intron	p.NEA303fs	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	1073_1079	-			303					A8K7P8	Frame_Shift_Del	DEL	ENST00000264381.3	37	c.907_913delAATGAAG	CCDS3198.1																																																																																				0.401	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			33	123						33	123	---	---	---	---
LPP	4026	broad.mit.edu	37	3	188478066	188478066	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr3:188478066delA	ENST00000312675.4	+	8	1652	c.1406delA	c.(1405-1407)tacfs	p.Y469fs	LPP_ENST00000543006.1_Frame_Shift_Del_p.Y469fs	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	469	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GAGCCCTGCTACATTGTAAGT	0.453			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1405-1407)tcfs		LIM domain containing preferred translocation partner in lipoma							130.0	123.0	125.0					3																	188478066		2203	4300	6503	SO:0001589	frameshift_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188478066delA	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1406delA	3.37:g.188478066delA	ENSP00000318089:p.Tyr469fs					LPP_ENST00000543006.1_Frame_Shift_Del_p.Y469fs	p.Y469fs	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	8	1652	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	469			LIM zinc-binding 1.		A1L4L6|D3DNV6|Q8NFX5	Frame_Shift_Del	DEL	ENST00000312675.4	37	c.1406delA	CCDS3291.1																																																																																				0.453	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		11	250						11	250	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2674078	2674079	+	Frame_Shift_Ins	INS	-	-	C	rs369298637		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr4:2674078_2674079insC	ENST00000324666.5	+	11	1788_1789	c.1437_1438insC	c.(1438-1440)cccfs	p.P480fs	FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.P480fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.P480fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.P480fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.P502fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	480										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						TGTATGCAACGCCCCCCTTCAC	0.51																																						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.(1435-1440)acccccfs		family with sequence similarity 193, member A																																				SO:0001589	frameshift_variant	8603							g.chr4:2674078_2674079insC	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.1443dupC	4.37:g.2674084_2674084dupC	ENSP00000324587:p.Pro480fs					FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.TP479fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.TP479fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.TP479fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.TP501fs	p.TP479fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			11	1788_1789	+			479					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Ins	INS	ENST00000324666.5	37	c.1437_1438insC	CCDS58875.1																																																																																				0.510	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		7	258						7	258	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47676518	47676519	+	Splice_Site	INS	-	-	TT			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr4:47676518_47676519insTT	ENST00000273857.4	-	10	1249		c.e10-1		CORIN_ENST00000502252.1_Splice_Site|CORIN_ENST00000505909.1_Splice_Site|CORIN_ENST00000508498.1_Splice_Site|CORIN_ENST00000504584.1_Splice_Site	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase						female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GAAGTCTGAACTACAGAGGGAG	0.441																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.e10-1		corin, serine peptidase																																				SO:0001630	splice_region_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47676518_47676519insTT	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1250-1->AA	4.37:g.47676518_47676519insTT						CORIN_ENST00000504584.1_Splice_Site|CORIN_ENST00000502252.1_Splice_Site|CORIN_ENST00000508498.1_Splice_Site|CORIN_ENST00000505909.1_Splice_Site		NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			10	1249	-								B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Splice_Site	INS	ENST00000273857.4	37		CCDS3477.1																																																																																				0.441	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		Intron	56	421						56	421	---	---	---	---
C4orf32	132720	broad.mit.edu	37	4	113107915	113107916	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr4:113107915_113107916insT	ENST00000309733.5	+	2	404_405	c.220_221insT	c.(220-222)cttfs	p.L74fs		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	74						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		AATGGGAACACTTTTTGGTGAA	0.366																																						ENST00000309733.4																			0											c.(220-222)tttfs		chromosome 4 open reading frame 32																																				SO:0001589	frameshift_variant	132720					integral to membrane		g.chr4:113107915_113107916insT	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.225dupT	4.37:g.113107920_113107920dupT	ENSP00000310182:p.Leu74fs						p.F74fs	NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00198)	2	404_405	+		Ovarian(17;0.156)	74					Q49A91|Q4W5C7|Q8TBF9	Frame_Shift_Ins	INS	ENST00000309733.5	37	c.220_221insT	CCDS3695.1																																																																																				0.366	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		8	760						8	760	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071648	134071649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	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	213						7	213	---	---	---	---
SNX25	83891	broad.mit.edu	37	4	186188239	186188240	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr4:186188239_186188240insC	ENST00000504273.1	+	5	823_824	c.529_530insC	c.(529-531)gccfs	p.A177fs	SNX25_ENST00000264694.8_Frame_Shift_Ins_p.A177fs			Q9H3E2	SNX25_HUMAN	sorting nexin 25	177					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CTACACCTATGCCCCCTCTTAC	0.441																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(529-531)cccfs		sorting nexin 25																																				SO:0001589	frameshift_variant	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186188239_186188240insC	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.534dupC	4.37:g.186188244_186188244dupC	ENSP00000426255:p.Ala177fs					SNX25_ENST00000264694.8_Frame_Shift_Ins_p.P177fs	p.P177fs			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	5	823_824	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	177					Q3ZT30|Q8N6K3	Frame_Shift_Ins	INS	ENST00000504273.1	37	c.529_530insC	CCDS34116.1																																																																																				0.441	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		10	381						10	381	---	---	---	---
ZNF366	167465	broad.mit.edu	37	5	71739905	71739906	+	Frame_Shift_Ins	INS	-	-	G	rs188688331		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr5:71739905_71739906insG	ENST00000318442.5	-	5	2402_2403	c.1912_1913insC	c.(1912-1914)cagfs	p.Q638fs	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	638	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTGCTGGCTCTGGGGGGCCAGG	0.653																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1912-1914)gagfs		zinc finger protein 366																																				SO:0001589	frameshift_variant	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739905_71739906insG	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1913dupC	5.37:g.71739911_71739911dupG	ENSP00000313158:p.Gln638fs						p.E638fs	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2402_2403	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	638					Q5HYI9|Q7RTV4	Frame_Shift_Ins	INS	ENST00000318442.5	37	c.1912_1913insC	CCDS4015.1																																																																																				0.653	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			7	607						7	607	---	---	---	---
CEP120	153241	broad.mit.edu	37	5	122713212	122713213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr5:122713212_122713213insT	ENST00000306467.5	-	16	2517_2518	c.2213_2214insA	c.(2212-2214)aagfs	p.K738fs	CEP120_ENST00000328236.5_Frame_Shift_Ins_p.K738fs|CEP120_ENST00000306481.6_Frame_Shift_Ins_p.K712fs			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	738					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)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ATTGCAGTTCCTTTTTTTCTCT	0.391																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(2212-2214)agafs		centrosomal protein 120kDa																																				SO:0001589	frameshift_variant	153241					centrosome		g.chr5:122713212_122713213insT	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2214dupA	5.37:g.122713219_122713219dupT	ENSP00000303058:p.Lys738fs					CEP120_ENST00000306481.6_Frame_Shift_Ins_p.R712fs|CEP120_ENST00000328236.5_Frame_Shift_Ins_p.R738fs	p.R738fs			Q8N960	CE120_HUMAN			16	2517_2518	-			738					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Frame_Shift_Ins	INS	ENST00000306467.5	37	c.2213_2214insA	CCDS4134.2																																																																																				0.391	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		9	290						9	290	---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132432907	132432907	+	Frame_Shift_Del	DEL	G	G	-	rs143003242		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr5:132432907delG	ENST00000304858.2	+	15	2147	c.1858delG	c.(1858-1860)gcafs	p.A620fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	620					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTAAGAACGCAGTGGAGGA	0.373																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(1858-1860)cafs		heat shock 70kDa protein 4							225.0	209.0	214.0					5																	132432907		2203	4300	6503	SO:0001589	frameshift_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132432907delG	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1858delG	5.37:g.132432907delG	ENSP00000302961:p.Ala620fs						p.A620fs	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2147	+			620					O95756|Q2TAL4|Q9BUK9	Frame_Shift_Del	DEL	ENST00000304858.2	37	c.1858delG	CCDS4166.1																																																																																				0.373	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		14	580						14	580	---	---	---	---
WWC1	23286	broad.mit.edu	37	5	167850576	167850577	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr5:167850576_167850577insC	ENST00000265293.4	+	11	1815_1816	c.1313_1314insC	c.(1312-1317)agccccfs	p.SP438fs	WWC1_ENST00000521089.1_Frame_Shift_Ins_p.SP438fs	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	438					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TCAGGCAGCAGCCCCGGATCCC	0.614																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(1312-1314)accfs		WW and C2 domain containing 1																																				SO:0001589	frameshift_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167850576_167850577insC	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1317dupC	5.37:g.167850580_167850580dupC	ENSP00000265293:p.Ser438fs					WWC1_ENST00000521089.1_Frame_Shift_Ins_p.T438fs	p.T438fs	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	11	1815_1816	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	438					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Frame_Shift_Ins	INS	ENST00000265293.4	37	c.1313_1314insC	CCDS4366.1																																																																																				0.614	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		7	2448						7	2448	---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47680115	47680115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr6:47680115delT	ENST00000283303.2	+	5	581	c.323delT	c.(322-324)cttfs	p.L108fs	GPR115_ENST00000327753.3_Frame_Shift_Del_p.L108fs|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Frame_Shift_Del_p.L165fs	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	108					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCATCTCGCCTTTCTGTAGCA	0.408																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(322-324)ctfs		G protein-coupled receptor 115							147.0	137.0	140.0					6																	47680115		2203	4300	6503	SO:0001589	frameshift_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47680115delT	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.323delT	6.37:g.47680115delT	ENSP00000283303:p.Leu108fs					GPR115_ENST00000327753.3_Frame_Shift_Del_p.L108fs|GPR115_ENST00000371220.1_Frame_Shift_Del_p.L165fs	p.L108fs	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			5	581	+			108					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Frame_Shift_Del	DEL	ENST00000283303.2	37	c.323delT	CCDS4922.2																																																																																				0.408	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		293	192						293	192	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(361-363)tttfs	p.F121fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	121					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)			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)			CTGAGACCTGGTTTTTTGGACA	0.431																																						ENST00000370862.3																			0				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.(358-363)tgttttfs		hypocretin (orexin) receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113573_55113574insT	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.366dupT	6.37:g.55113579_55113579dupT	ENSP00000359899:p.Phe121fs						p.CF120fs	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	696_697	+	Lung NSC(77;0.107)|Renal(3;0.122)		120					Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.360_361insT	CCDS4956.1																																																																																				0.431	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			11	646						11	646	---	---	---	---
DST	667	broad.mit.edu	37	6	56471391	56471392	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr6:56471391_56471392delAG	ENST00000361203.3	-	36	7408_7409	c.7401_7402delCT	c.(7399-7404)agcttafs	p.L2468fs	DST_ENST00000370769.4_Frame_Shift_Del_p.L2468fs|DST_ENST00000446842.2_Frame_Shift_Del_p.L2142fs|DST_ENST00000370754.5_Frame_Shift_Del_p.L2646fs|DST_ENST00000312431.6_Frame_Shift_Del_p.L2468fs|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2468					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCACACTTAAGCTACCAACTG	0.386																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(7933-7938)agtafs		dystonin																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56471391_56471392delAG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.7401_7402delCT	6.37:g.56471391_56471392delAG	ENSP00000354508:p.Leu2468fs					DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Frame_Shift_Del_p.SL2467fs|DST_ENST00000312431.6_Frame_Shift_Del_p.SL2467fs|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Frame_Shift_Del_p.SL2467fs|DST_ENST00000446842.2_Frame_Shift_Del_p.SL2141fs	p.SL2645fs			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	7934_7935	-	Lung NSC(77;0.103)		2467					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000361203.3	37	c.7935_7936delCT																																																																																					0.386	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		10	112						10	112	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75827102	75827103	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr6:75827102_75827103insT	ENST00000322507.8	-	47	7823_7824	c.7514_7515insA	c.(7513-7515)actfs	p.T2505fs	COL12A1_ENST00000416123.2_Frame_Shift_Ins_p.T2505fs|COL12A1_ENST00000483888.2_Frame_Shift_Ins_p.T2505fs|COL12A1_ENST00000345356.6_Frame_Shift_Ins_p.T1341fs	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2505	Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACTTACTTGAAGTGGCAGTTTC	0.381																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(7513-7515)atcfs		collagen, type XII, alpha 1																																				SO:0001589	frameshift_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75827102_75827103insT	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7514_7515insA	6.37:g.75827102_75827103insT	ENSP00000325146:p.Thr2505fs					COL12A1_ENST00000345356.6_Frame_Shift_Ins_p.I1341fs|COL12A1_ENST00000416123.2_Frame_Shift_Ins_p.I2505fs|COL12A1_ENST00000483888.2_Frame_Shift_Ins_p.I2505fs	p.I2505fs	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			47	7823_7824	-			2505			Nonhelical region (NC3).		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Frame_Shift_Ins	INS	ENST00000322507.8	37	c.7514_7515insA	CCDS43482.1																																																																																				0.381	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		15	155						15	155	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75866087	75866088	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr6:75866087_75866088insG	ENST00000322507.8	-	15	3444_3445	c.3135_3136insC	c.(3133-3138)cccacafs	p.T1046fs	COL12A1_ENST00000416123.2_Frame_Shift_Ins_p.T1046fs|COL12A1_ENST00000483888.2_Frame_Shift_Ins_p.T1046fs|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1046	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.T1046fs*7(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAAGTGACTGTGGGGGGCACCT	0.49																																						ENST00000322507.8																			1	Deletion - Frameshift(1)	p.T1046fs*7(1)	large_intestine(1)	breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(3133-3138)cccagtfs		collagen, type XII, alpha 1																																				SO:0001589	frameshift_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75866087_75866088insG	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3136dupC	6.37:g.75866093_75866093dupG	ENSP00000325146:p.Thr1046fs					COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Frame_Shift_Ins_p.S1046fs|COL12A1_ENST00000483888.2_Frame_Shift_Ins_p.S1046fs	p.S1046fs	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			15	3444_3445	-			1046			Fibronectin type-III 7.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Frame_Shift_Ins	INS	ENST00000322507.8	37	c.3135_3136insC	CCDS43482.1																																																																																				0.490	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		10	245						10	245	---	---	---	---
GPNMB	10457	broad.mit.edu	37	7	23306134	23306135	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr7:23306134_23306135insT	ENST00000381990.2	+	7	1214_1215	c.1053_1054insT	c.(1054-1056)ggafs	p.G352fs	GPNMB_ENST00000539136.1_Splice_Site|GPNMB_ENST00000453162.2_Frame_Shift_Ins_p.G294fs|GPNMB_ENST00000258733.4_Splice_Site	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	352					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAAACACCCCAGGACCTGCTGG	0.386																																						ENST00000381990.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(1051-1056)ccgaccfs		glycoprotein (transmembrane) nmb																																				SO:0001589	frameshift_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23306134_23306135insT	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	Exception_encountered	7.37:g.23306134_23306135insT	ENSP00000371420:p.Gly352fs					GPNMB_ENST00000453162.2_Frame_Shift_Ins_p.T294fs|GPNMB_ENST00000539136.1_Splice_Site|GPNMB_ENST00000258733.4_Splice_Site	p.T352fs	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		7	1214_1215	+			352					A4D155|Q6UVX1|Q8N1A1	Frame_Shift_Ins	INS	ENST00000381990.2	37	c.1053_1054insT	CCDS34610.1																																																																																				0.386	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		7	108						7	108	---	---	---	---
HOXA9	3205	broad.mit.edu	37	7	27203289	27203289	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr7:27203289delT	ENST00000343483.6	-	2	824	c.752delA	c.(751-753)aagfs	p.K251fs	HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Frame_Shift_Del_p.K91fs|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000497089.1_5'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	251					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						GAACCAGATCTTGACCTGCCT	0.483			T	"""NUP98, MSI2"""	AML*																																	ENST00000343483.6				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"""NUP98, MSI2"""		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(751-753)agfs		homeobox A9							127.0	128.0	128.0					7																	27203289		2203	4300	6503	SO:0001589	frameshift_variant	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27203289delT		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.752delA	7.37:g.27203289delT	ENSP00000343619:p.Lys251fs					RP1-170O19.20_ENST00000465941.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Frame_Shift_Del_p.K91fs|HOXA9_ENST00000396345.1_3'UTR|HOXA9_ENST00000497089.1_5'UTR	p.K251fs	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN			2	824	-			251					O43369|O43429|Q99820	Frame_Shift_Del	DEL	ENST00000343483.6	37	c.752delA	CCDS5409.1																																																																																				0.483	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			7	495						7	495	---	---	---	---
NPSR1	387129	broad.mit.edu	37	7	34888227	34888228	+	Frame_Shift_Ins	INS	-	-	C	rs139125527	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr7:34888227_34888228insC	ENST00000360581.1	+	8	1105_1106	c.977_978insC	c.(976-981)aaccccfs	p.NP326fs	NPSR1_ENST00000381542.1_Frame_Shift_Ins_p.NP260fs|NPSR1_ENST00000381539.3_Frame_Shift_Ins_p.NP326fs|NPSR1_ENST00000531252.1_Frame_Shift_Ins_p.NP315fs|NPSR1_ENST00000359791.1_Frame_Shift_Ins_p.NP326fs	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	326						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AGTGCCATCAACCCCCTCATCT	0.5																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(976-978)accfs		neuropeptide S receptor 1	Halothane(DB01159)																																			SO:0001589	frameshift_variant	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34888227_34888228insC	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.982dupC	7.37:g.34888232_34888232dupC	ENSP00000353788:p.Asn326fs					NPSR1_ENST00000381539.3_Frame_Shift_Ins_p.T326fs|NPSR1_ENST00000359791.1_Frame_Shift_Ins_p.T326fs|NPSR1_ENST00000531252.1_Frame_Shift_Ins_p.T315fs|NPSR1_ENST00000381542.1_Frame_Shift_Ins_p.T260fs	p.T326fs	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			8	1105_1106	+			326					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Frame_Shift_Ins	INS	ENST00000360581.1	37	c.977_978insC	CCDS5444.1																																																																																				0.500	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		7	635						7	635	---	---	---	---
EPHB4	2050	broad.mit.edu	37	7	100404119	100404120	+	Frame_Shift_Ins	INS	-	-	CTGA			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr7:100404119_100404120insCTGA	ENST00000358173.3	-	14	2874_2875	c.2406_2407insTCAG	c.(2404-2409)gatgccfs	p.A803fs	EPHB4_ENST00000360620.3_Frame_Shift_Ins_p.A803fs	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	803	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TAACTCCAGGCATCACTGGCGG	0.554																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2404-2409)gacctgfs		EPH receptor B4																																				SO:0001589	frameshift_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100404119_100404120insCTGA	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2406_2407insTCAG	7.37:g.100404119_100404120insCTGA	ENSP00000350896:p.Ala803fs					EPHB4_ENST00000360620.3_Frame_Shift_Ins_p.L803fs	p.L803fs	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			14	2874_2875	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		803			Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Frame_Shift_Ins	INS	ENST00000358173.3	37	c.2406_2407insTCAG	CCDS5706.1																																																																																				0.554	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		33	994						33	994	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111418424	111418425	+	Splice_Site	INS	-	-	GA			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr7:111418424_111418425insGA	ENST00000437633.1	-	35	3815_3816	c.3559_3560insTC	c.(3559-3561)aac>aTCac	p.N1187fs	DOCK4_ENST00000494651.2_Splice_Site_p.N70fs|DOCK4_ENST00000428084.1_Splice_Site_p.N1196fs	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1187					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTTATAGAAGTTCTGTAAAAAA	0.381																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.e36-1		dedicator of cytokinesis 4																																				SO:0001630	splice_region_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111418424_111418425insGA		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3559-1->TC	7.37:g.111418424_111418425insGA						DOCK4_ENST00000494651.2_Splice_Site_p.L70_splice|DOCK4_ENST00000437633.1_Splice_Site_p.L1187_splice	p.L1196_splice			Q8N1I0	DOCK4_HUMAN			36	3858_3859	-		Acute lymphoblastic leukemia(1;0.0441)	1187			DHR-2.		O14584|O94824|Q8NB45	Splice_Site	INS	ENST00000437633.1	37	c.3585_splice	CCDS47688.1																																																																																				0.381	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	Frame_Shift_Ins	14	220						14	220	---	---	---	---
SORBS3	10174	broad.mit.edu	37	8	22414410	22414411	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr8:22414410_22414411insC	ENST00000240123.7	+	4	786_787	c.403_404insC	c.(403-405)gccfs	p.A135fs	SORBS3_ENST00000523402.1_Frame_Shift_Ins_p.A135fs	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	135	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CATGCCCATTGCCCCCCGATCC	0.634																																						ENST00000240123.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(403-405)cccfs		sorbin and SH3 domain containing 3																																				SO:0001589	frameshift_variant	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22414410_22414411insC		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.409dupC	8.37:g.22414416_22414416dupC	ENSP00000240123:p.Ala135fs					SORBS3_ENST00000523402.1_Frame_Shift_Ins_p.P135fs	p.P135fs	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	4	786_787	+		Prostate(55;0.0421)|Breast(100;0.102)	135			SoHo.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Frame_Shift_Ins	INS	ENST00000240123.7	37	c.403_404insC	CCDS6031.1																																																																																				0.634	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		12	421						12	421	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100887780	100887781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr8:100887780_100887781insC	ENST00000358544.2	+	62	12066_12067	c.11955_11956insC	c.(11956-11958)cccfs	p.P3986fs	VPS13B_ENST00000357162.2_Frame_Shift_Ins_p.P3961fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3986					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGCAGAACCTCCCCCCTCCAC	0.465																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(11953-11958)ccccccfs		vacuolar protein sorting 13 homolog B (yeast)																																				SO:0001589	frameshift_variant	157680				protein transport			g.chr8:100887780_100887781insC	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11961dupC	8.37:g.100887786_100887786dupC	ENSP00000351346:p.Pro3986fs					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Ins_p.PP3960fs	p.PP3985fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		62	12066_12067	+	Breast(36;3.73e-07)		3985					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Ins	INS	ENST00000358544.2	37	c.11955_11956insC	CCDS6280.1																																																																																				0.465	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		11	294						11	294	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27172694	27172695	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr9:27172694_27172695delAC	ENST00000380036.4	+	5	1151_1152	c.709_710delAC	c.(709-711)actfs	p.T237fs	TEK_ENST00000406359.4_Frame_Shift_Del_p.T237fs|TEK_ENST00000519097.1_Frame_Shift_Del_p.T133fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	237	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	CCATGAAGATACTGGAGAATGC	0.436																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(709-711)tfs		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.chr9:27172694_27172695delAC	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.709_710delAC	9.37:g.27172694_27172695delAC	ENSP00000369375:p.Thr237fs					TEK_ENST00000406359.4_Frame_Shift_Del_p.T237fs|TEK_ENST00000519097.1_Frame_Shift_Del_p.T133fs	p.T237fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	5	1151_1152	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	237			EGF-like 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Del	DEL	ENST00000380036.4	37	c.709_710delAC	CCDS6519.1																																																																																				0.436	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			22	178						22	178	---	---	---	---
TSTD2	158427	broad.mit.edu	37	9	100389762	100389763	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr9:100389762_100389763insG	ENST00000341170.4	-	2	464_465	c.82_83insC	c.(82-84)atgfs	p.M28fs	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	28										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AATAAGACTCATATCTTTTAAA	0.376																																						ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(82-84)gagfs		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2																																				SO:0001589	frameshift_variant	158427							g.chr9:100389762_100389763insG	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.82_83insC	9.37:g.100389762_100389763insG	ENSP00000342499:p.Met28fs					TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000354801.2_5'UTR	p.E28fs	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN			2	464_465	-			28					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Frame_Shift_Ins	INS	ENST00000341170.4	37	c.82_83insC	CCDS6727.2																																																																																				0.376	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		16	331						16	331	---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123169393	123169394	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr9:123169393_123169394delCT	ENST00000349780.4	-	32	5038_5039	c.4859_4860delAG	c.(4858-4860)aagfs	p.K1620fs	CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000360822.3_Frame_Shift_Del_p.K1588fs|CDK5RAP2_ENST00000359309.3_Frame_Shift_Del_p.K1579fs	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1620					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCAGCTGTTCCTTGAGCCTGCT	0.594																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(4858-4860)afs		CDK5 regulatory subunit associated protein 2																																				SO:0001589	frameshift_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123169393_123169394delCT	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4859_4860delAG	9.37:g.123169393_123169394delCT	ENSP00000343818:p.Lys1620fs					CDK5RAP2_ENST00000360822.3_Frame_Shift_Del_p.K1588fs|CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000359309.3_Frame_Shift_Del_p.K1579fs	p.K1620fs	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			32	5038_5039	-			1620					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Frame_Shift_Del	DEL	ENST00000349780.4	37	c.4859_4860delAG	CCDS6823.1																																																																																				0.594	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		37	682						37	682	---	---	---	---
PRKCQ	5588	broad.mit.edu	37	10	6506351	6506352	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr10:6506351_6506352insA	ENST00000263125.5	-	13	1467_1468	c.1368_1369insT	c.(1366-1371)tttgtgfs	p.V457fs	PRKCQ_ENST00000539722.1_Frame_Shift_Ins_p.V332fs|PRKCQ_ENST00000397176.2_Frame_Shift_Ins_p.V457fs	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	457	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TACTCCATCACAAAAAAGAGGT	0.401																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(1366-1371)tttgatfs		protein kinase C, theta																																				SO:0001589	frameshift_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6506351_6506352insA	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1369dupT	10.37:g.6506357_6506357dupA	ENSP00000263125:p.Val457fs					PRKCQ_ENST00000539722.1_Frame_Shift_Ins_p.D332fs|PRKCQ_ENST00000397176.2_Frame_Shift_Ins_p.D457fs	p.D457fs	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			13	1467_1468	-			457			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Frame_Shift_Ins	INS	ENST00000263125.5	37	c.1368_1369insT	CCDS7079.1																																																																																				0.401	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		13	1167						13	1167	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs112207161	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insEE	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619														2708	0.540735	0.916	0.4063	5008	,	,		10303	0.3244		0.5408	False		,,,				2504	0.3517					ENST00000449193.2																			2	Insertion - In frame(2)	p.E428_G429insEE(2)	soft_tissue(2)								c.(1285-1287)ggg>AGGAGGggg		SKI/DACH domain containing 1				3173,56,18,597		1435,46,11,246,5,0,0,3,1,175						3.0	1.0		dbSNP_132	7	4189,51,27,3619		1322,36,14,1495,1,0,13,2,9,1051	no	codingComplex	C10orf140	NM_207371.3		2757,82,25,1741,6,0,13,5,10,1226	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		46.8805,17.4558,37.2379				7362,107,45,4216				SO:0001652	inframe_insertion	387640							g.chr10:21805466_21805467insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1280_1285dupAGGAGG	10.37:g.21805467_21805472dupCCTCCT	ENSP00000410041:p.Glu427_Glu428dup					SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	p.428_429insRR	NM_207371.3	NP_997254.3					4	3537_3538	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1285_1286insAGGAGG	CCDS44363.1																																																																																				0.619	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		32	35						32	35	---	---	---	---
ZFYVE27	118813	broad.mit.edu	37	10	99504492	99504499	+	Frame_Shift_Del	DEL	GGTACTCA	GGTACTCA	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr10:99504492_99504499delGGTACTCA	ENST00000393677.4	+	4	479_486	c.275_282delGGTACTCA	c.(274-282)tggtactcafs	p.WYS92fs	ZFYVE27_ENST00000337540.7_Frame_Shift_Del_p.WYS60fs|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000453958.2_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000370610.3_5'UTR|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000356257.4_Frame_Shift_Del_p.WYS92fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	92					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GCAGGTGCATGGTACTCAGTAGGTGCCC	0.577																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(274-282)tfs		zinc finger, FYVE domain containing 27																																				SO:0001589	frameshift_variant	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99504492_99504499delGGTACTCA	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.275_282delGGTACTCA	10.37:g.99504492_99504499delGGTACTCA	ENSP00000377282:p.Trp92fs					ZFYVE27_ENST00000359980.3_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000453958.2_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Del_p.WYS60fs|ZFYVE27_ENST00000370610.3_5'UTR|ZFYVE27_ENST00000357540.4_Intron	p.WYS92fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	4	479_486	+		Colorectal(252;0.0846)	92					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Frame_Shift_Del	DEL	ENST00000393677.4	37	c.275_282delGGTACTCA	CCDS31263.1																																																																																				0.577	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		8	134						8	134	---	---	---	---
CARS	833	broad.mit.edu	37	11	3023250	3023251	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:3023250_3023251insG	ENST00000397111.5	-	21	2306_2307	c.2061_2062insC	c.(2059-2064)cccagtfs	p.S688fs	CARS_ENST00000380525.4_Frame_Shift_Ins_p.S771fs|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Frame_Shift_Ins_p.S688fs|CARS_ENST00000397114.3_Frame_Shift_Ins_p.S678fs|CARS_ENST00000401769.3_Frame_Shift_Ins_p.S701fs			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_ENST00000380525.4_Frame_Shift_Ins_p.*771fs|CARS_ENST00000278224.9_Frame_Shift_Ins_p.*688fs|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000397111.5_Frame_Shift_Ins_p.*688fs|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		9	1015						9	1015	---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6244063	6244064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:6244063_6244064insC	ENST00000449352.2	-	5	1263_1264	c.1000_1001insG	c.(1000-1002)gtcfs	p.V334fs	FAM160A2_ENST00000265978.4_Frame_Shift_Ins_p.V334fs|FAM160A2_ENST00000524416.1_Frame_Shift_Ins_p.V334fs			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	334					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGACCCATGACAGGCACCAGG	0.545																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1000-1002)catfs		family with sequence similarity 160, member A2																																				SO:0001589	frameshift_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6244063_6244064insC		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1001dupG	11.37:g.6244064_6244064dupC	ENSP00000416918:p.Val334fs					FAM160A2_ENST00000524416.1_Frame_Shift_Ins_p.H334fs|FAM160A2_ENST00000449352.2_Frame_Shift_Ins_p.H334fs	p.H334fs	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			5	1358_1359	-			334					Q9C0A4|Q9H0N3|Q9H624	Frame_Shift_Ins	INS	ENST00000449352.2	37	c.1000_1001insG	CCDS44530.1																																																																																				0.545	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		17	752						17	752	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20067148	20067149	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:20067148_20067149insA	ENST00000396087.3	+	15	4002_4003	c.3903_3904insA	c.(3904-3906)agtfs	p.S1302fs	NAV2_ENST00000349880.4_Frame_Shift_Ins_p.S1279fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.S1233fs|NAV2_ENST00000396085.1_Frame_Shift_Ins_p.S1279fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.S1231fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.S1215fs|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Frame_Shift_Ins_p.S365fs|NAV2_ENST00000533917.1_Frame_Shift_Ins_p.S365fs	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1302					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGCCTGTGTCCAGTCCGGCTCA	0.545																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(3832-3837)tcgtccfs		neuron navigator 2																																				SO:0001589	frameshift_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20067148_20067149insA	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3904dupA	11.37:g.20067149_20067149dupA	ENSP00000379396:p.Ser1302fs					NAV2_ENST00000396087.3_Frame_Shift_Ins_p.S1302fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.S1215fs|NAV2_ENST00000533917.1_Frame_Shift_Ins_p.S365fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.S1233fs|NAV2_ENST00000349880.4_Frame_Shift_Ins_p.S1279fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.S1231fs|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Frame_Shift_Ins_p.S365fs	p.S1279fs	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			14	4195_4196	+			1302					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Frame_Shift_Ins	INS	ENST00000396087.3	37	c.3834_3835insA	CCDS58126.1																																																																																				0.545	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		11	176						11	176	---	---	---	---
CCDC73	493860	broad.mit.edu	37	11	32637520	32637520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:32637520delT	ENST00000335185.5	-	15	1384	c.1341delA	c.(1339-1341)aaafs	p.K447fs	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	447										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATGAGCCTTCTTTTTTTTCTT	0.249																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(1339-1341)aafs		coiled-coil domain containing 73							42.0	38.0	40.0					11																	32637520		1765	4040	5805	SO:0001589	frameshift_variant	493860							g.chr11:32637520delT	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1341delA	11.37:g.32637520delT	ENSP00000335325:p.Lys447fs					CCDC73_ENST00000534415.1_5'UTR	p.K447fs	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			15	1384	-	Breast(20;0.112)		447					Q6P5Q7|Q6ZMW0|Q86WE7	Frame_Shift_Del	DEL	ENST00000335185.5	37	c.1341delA	CCDS41630.1																																																																																				0.249	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		2	4						2	4	---	---	---	---
ACCSL	390110	broad.mit.edu	37	11	44080010	44080011	+	Splice_Site	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:44080010_44080011insT	ENST00000378832.1	+	12	1526		c.e12+1			NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like						biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTTGAAAAAGGTGTGTTCTGGG	0.535																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.e12+1		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like																																				SO:0001630	splice_region_variant	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44080010_44080011insT		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1470+1->T	11.37:g.44080011_44080011dupT								NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			12	1526	+									Splice_Site	INS	ENST00000378832.1	37		CCDS41636.1																																																																																				0.535	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854	Intron	17	283						17	283	---	---	---	---
OR5M1	390168	broad.mit.edu	37	11	56380547	56380550	+	Frame_Shift_Del	DEL	CAGA	CAGA	-	rs71931749|rs72003051	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:56380547_56380550delCAGA	ENST00000526538.1	-	1	428_431	c.429_432delTCTG	c.(427-432)tgtctgfs	p.CL143fs		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	143						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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GGATAGTGACCAGACAGACACAGA	0.436														634	0.126597	0.031	0.098	5008	,	,		22572	0.1617		0.2008	False		,,,				2504	0.1636					ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(427-432)tgfs		olfactory receptor, family 5, subfamily M, member 1				236,3532		12,212,1660						3.7	0.0		dbSNP_130	118	1705,6265		205,1295,2485	no	frameshift	OR5M1	NM_001004740.1		217,1507,4145	A1A1,A1R,RR		21.3927,6.2633,16.536				1941,9797				SO:0001589	frameshift_variant	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380547_56380550delCAGA	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.429_432delTCTG	11.37:g.56380551_56380554delCAGA	ENSP00000435416:p.Cys143fs						p.CL143fs	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	428_431	-			143					Q6IF60|Q96RB6	Frame_Shift_Del	DEL	ENST00000526538.1	37	c.429_432delTCTG	CCDS53631.1																																																																																				0.436	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		25	290						25	290	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118495753	118495754	+	Frame_Shift_Ins	INS	-	-	C	rs267602716		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:118495753_118495754insC	ENST00000361417.2	+	6	870_871	c.459_460insC	c.(460-462)cccfs	p.P154fs	PHLDB1_ENST00000356063.5_Frame_Shift_Ins_p.P154fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	154										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GAGCCCCTGGGCCCCCCTACAG	0.609																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(457-462)ggccccfs		pleckstrin homology-like domain, family B, member 1																																				SO:0001589	frameshift_variant	23187							g.chr11:118495753_118495754insC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.465dupC	11.37:g.118495759_118495759dupC	ENSP00000354498:p.Pro154fs					PHLDB1_ENST00000356063.5_Frame_Shift_Ins_p.GP153fs	p.GP153fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	6	870_871	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	153					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Frame_Shift_Ins	INS	ENST00000361417.2	37	c.459_460insC	CCDS8401.1																																																																																				0.609	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		8	554						8	554	---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134181004	134181005	+	Frame_Shift_Ins	INS	-	-	C	rs370128549		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr11:134181004_134181005insC	ENST00000431683.2	+	13	1227_1228	c.1227_1228insC	c.(1228-1230)cccfs	p.P410fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	410					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGGCTGTGTATCCCCCCGTGAG	0.604																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1225-1230)taccccfs		galactosidase, beta 1-like 3																																				SO:0001589	frameshift_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134181004_134181005insC		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1233dupC	11.37:g.134181010_134181010dupC	ENSP00000396615:p.Pro410fs						p.YP409fs	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1227_1228	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	409					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Frame_Shift_Ins	INS	ENST00000431683.2	37	c.1227_1228insC	CCDS44780.1																																																																																				0.604	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		14	1559						14	1559	---	---	---	---
FOXM1	2305	broad.mit.edu	37	12	2968087	2968088	+	Frame_Shift_Ins	INS	-	-	G	rs563190488		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:2968087_2968088insG	ENST00000359843.3	-	9	2076_2077	c.2008_2009insC	c.(2008-2010)cttfs	p.L670fs	ITFG2_ENST00000545509.1_Intron|Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000342628.2_Frame_Shift_Ins_p.L708fs|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.L655fs|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					FOXM1_ENST00000359843.3_Frame_Shift_Ins_p.*670fs|ITFG2_ENST00000545509.1_Intron|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		9	228						9	228	---	---	---	---
KRT85	3891	broad.mit.edu	37	12	52760911	52760912	+	Frame_Shift_Ins	INS	-	-	G	rs143575567		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:52760911_52760912insG	ENST00000257901.3	-	1	353_354	c.278_279insC	c.(277-279)ccafs	p.P93fs	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	93	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TAGTGATGCATGGGGGGCTGGG	0.673																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(277-279)ctgfs		keratin 85																																				SO:0001589	frameshift_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52760911_52760912insG	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.279dupC	12.37:g.52760917_52760917dupG	ENSP00000257901:p.Pro93fs						p.L93fs	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	353_354	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		93			Head.		Q9NSB1	Frame_Shift_Ins	INS	ENST00000257901.3	37	c.278_279insC	CCDS8824.1																																																																																				0.673	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		9	717						9	717	---	---	---	---
SP1	6667	broad.mit.edu	37	12	53776725	53776727	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:53776725_53776727delACC	ENST00000327443.4	+	3	1092_1094	c.994_996delACC	c.(994-996)accdel	p.T333del	SP1_ENST00000426431.2_In_Frame_Del_p.T326del	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	333	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		AACTACTACTACCACCAGCAACA	0.502																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(973-975)del		Sp1 transcription factor																																				SO:0001651	inframe_deletion	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53776725_53776727delACC	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.994_996delACC	12.37:g.53776728_53776730delACC	ENSP00000329357:p.Thr333del					SP1_ENST00000327443.4_In_Frame_Del_p.T333del	p.T326del	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1033_1035	+			333			Ser/Thr-rich.|Transactivation domain B (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	In_Frame_Del	DEL	ENST00000327443.4	37	c.973_975delACC	CCDS8857.1																																																																																				0.502	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			9	174						9	174	---	---	---	---
RP11-13A1.3	0	broad.mit.edu	37	12	89462551	89462552	+	lincRNA	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:89462551_89462552insA	ENST00000549278.1	-	0	282																											agacagaatataaaaaagggag	0.406																																						ENST00000549278.1																			0																																																			0							g.chr12:89462551_89462552insA																													12.37:g.89462557_89462557dupA														0	282	-									RNA	INS	ENST00000549278.1	37																																																																																						0.406	RP11-13A1.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000406532.1			2	4						2	4	---	---	---	---
SDSL	113675	broad.mit.edu	37	12	113872000	113872001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:113872000_113872001insC	ENST00000403593.4	+	5	678_679	c.416_417insC	c.(415-420)gtccccfs	p.VP139fs	SDSL_ENST00000345635.4_Frame_Shift_Ins_p.VP139fs			Q96GA7	SDSL_HUMAN	serine dehydratase-like	139					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						TGGGAGAATGTCCCCCCGTTTG	0.614																																						ENST00000403593.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(415-417)gccfs		serine dehydratase-like	Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113872000_113872001insC	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.422dupC	12.37:g.113872006_113872006dupC	ENSP00000385790:p.Val139fs					SDSL_ENST00000345635.4_Frame_Shift_Ins_p.A139fs	p.A139fs			Q96GA7	SDSL_HUMAN			5	678_679	+			139						Frame_Shift_Ins	INS	ENST00000403593.4	37	c.416_417insC	CCDS9170.1																																																																																				0.614	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		7	924						7	924	---	---	---	---
RNF34	80196	broad.mit.edu	37	12	121855615	121855616	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:121855615_121855616insT	ENST00000392464.2	+	3	603_604	c.534_535insT	c.(535-537)tttfs	p.F179fs	RNF34_ENST00000392465.3_Frame_Shift_Ins_p.F180fs|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000361234.5_Frame_Shift_Ins_p.F179fs					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TTACACGTTCGTTTTTTTCAAA	0.47																																						ENST00000361234.5																			0				breast(1)|large_intestine(1)	2						c.(532-537)tcttttfs		ring finger protein 34, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121855615_121855616insT	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.541dupT	12.37:g.121855622_121855622dupT	ENSP00000376257:p.Phe179fs					RNF34_ENST00000392464.2_Frame_Shift_Ins_p.SF178fs|RNF34_ENST00000392465.3_Frame_Shift_Ins_p.SF179fs|RNF34_ENST00000555076.1_Intron	p.SF178fs	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	3	706_707	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		178						Frame_Shift_Ins	INS	ENST00000392464.2	37	c.534_535insT																																																																																					0.470	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		8	392						8	392	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124846815	124846816	+	Frame_Shift_Ins	INS	-	-	G	rs561270684		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr12:124846815_124846816insG	ENST00000405201.1	-	22	2956_2957	c.2956_2957insC	c.(2956-2958)cggfs	p.R986fs	NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.R969fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.R539fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.R968fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.R968fs|NCOR2_ENST00000356219.3_Frame_Shift_Ins_p.R985fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	986					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGCGTCCTCCCGGGGGGGCTCA	0.653																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2953-2955)ggafs		nuclear receptor corepressor 2			,,	13,3867		1,11,1928					,,	3.1	1.0			16	18,7950		0,18,3966	no	frameshift,frameshift,frameshift	NCOR2	NM_006312.5,NM_001206654.1,NM_001077261.3	,,	1,29,5894	A1A1,A1R,RR		0.2259,0.3351,0.2616	,,	,,		31,11817				SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124846815_124846816insG	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2957dupC	12.37:g.124846822_124846822dupG	ENSP00000384018:p.Arg986fs					NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.G539fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.G969fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.G986fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.G968fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.G968fs	p.G985fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	23	3108_3109	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		986					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Ins	INS	ENST00000405201.1	37	c.2953_2954insC	CCDS41858.2																																																																																				0.653	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		2	4						2	4	---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25480659	25480660	+	In_Frame_Ins	INS	-	-	AAA			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr13:25480659_25480660insAAA	ENST00000381884.4	-	7	1701_1702	c.1516_1517insTTT	c.(1516-1518)tgt>tTTTgt	p.505_506insF	CENPJ_ENST00000545981.1_In_Frame_Ins_p.505_506insF	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	505					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGGTTTTGGACACTCAGTTACA	0.436																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1516-1518)tcc>TTTtcc		centromere protein J																																				SO:0001652	inframe_insertion	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480659_25480660insAAA	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1516_1517insTTT	13.37:g.25480659_25480660insAAA	ENSP00000371308:p.Glu505_Cys506insPhe					CENPJ_ENST00000545981.1_In_Frame_Ins_p.505_506insF	p.505_506insF	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	1701_1702	-		Lung SC(185;0.0225)|Breast(139;0.0602)	505					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	In_Frame_Ins	INS	ENST00000381884.4	37	c.1516_1517insTTT	CCDS9310.1																																																																																				0.436	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		7	176						7	176	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28608071	28608072	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr13:28608071_28608072insCC	ENST00000241453.7	-	15	1975_1976	c.1894_1895insGG	c.(1894-1896)attfs	p.I632fs	FLT3_ENST00000380982.4_Frame_Shift_Ins_p.I632fs|FLT3_ENST00000537084.1_Frame_Shift_Ins_p.I632fs	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	632	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTTTTGCTAATTCCATAAGCT	0.426			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1894-1896)tagfs		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28608071_28608072insCC	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1894_1895insGG	13.37:g.28608071_28608072insCC	ENSP00000241453:p.Ile632fs					FLT3_ENST00000537084.1_Frame_Shift_Ins_p.*632fs|FLT3_ENST00000241453.7_Frame_Shift_Ins_p.*632fs	p.*632fs			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	15	1975_1976	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	632			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Frame_Shift_Ins	INS	ENST00000241453.7	37	c.1894_1895insGG	CCDS31953.1																																																																																				0.426	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			115	1248						115	1248	---	---	---	---
CPB2	1361	broad.mit.edu	37	13	46658415	46658416	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr13:46658415_46658416insA	ENST00000181383.4	-	3	229_230	c.213_214insT	c.(211-216)tttgtafs	p.V72fs	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Frame_Shift_Ins_p.V72fs|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	72					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GATGCATTTACAAAAAAATGGA	0.361																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(211-216)tttaaafs		carboxypeptidase B2 (plasma)																																				SO:0001589	frameshift_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46658415_46658416insA	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.214dupT	13.37:g.46658422_46658422dupA	ENSP00000181383:p.Val72fs					CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Frame_Shift_Ins_p.K72fs	p.K72fs	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	3	229_230	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	72					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Frame_Shift_Ins	INS	ENST00000181383.4	37	c.213_214insT	CCDS9401.1																																																																																				0.361	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		7	265						7	265	---	---	---	---
DHRS4L1	728635	broad.mit.edu	37	14	24518025	24518025	+	RNA	DEL	G	G	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr14:24518025delG	ENST00000558293.1	+	0	668					NR_102693.1																						AGGATGGTGAGGAAGGGGAGC	0.537																																						ENST00000558293.1																			0													dehydrogenase/reductase (SDR family) member 4 like 1							136.0	129.0	131.0					14																	24518025		2203	4300	6503			728635							g.chr14:24518025delG																													14.37:g.24518025delG								NR_102693.1						0	668	+									RNA	DEL	ENST00000558293.1	37																																																																																						0.537	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			7	617						7	617	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24885703	24885708	+	In_Frame_Del	DEL	GCAGGA	GCAGGA	-	rs368421154		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr14:24885703_24885708delGCAGGA	ENST00000382554.3	+	9	5066_5071	c.4748_4753delGCAGGA	c.(4747-4755)tgcaggagc>tgc	p.RS1584del		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1584					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAAGATTACTGCAGGAGCTGCTTGTT	0.583																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(4747-4755)tgc>t		NYN domain and retroviral integrase containing																																				SO:0001651	inframe_deletion	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24885703_24885708delGCAGGA	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4748_4753delGCAGGA	14.37:g.24885703_24885708delGCAGGA	ENSP00000371994:p.Arg1584_Ser1585del						p.CRS1583del	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	5066_5071	+			1583					Q6P153|Q86TR3|Q9HAC4	In_Frame_Del	DEL	ENST00000382554.3	37	c.4748_4753delGCAGGA	CCDS45090.1																																																																																				0.583	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			13	53						13	53	---	---	---	---
PAX9	5083	broad.mit.edu	37	14	37145441	37145442	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr14:37145441_37145442insC	ENST00000361487.6	+	4	1035_1036	c.810_811insC	c.(811-813)gcafs	p.A271fs	PAX9_ENST00000402703.2_Frame_Shift_Ins_p.A271fs|PAX9_ENST00000554201.1_Frame_Shift_Ins_p.QH80fs|PAX9_ENST00000557107.1_3'UTR			P55771	PAX9_HUMAN	paired box 9	271					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GTTTTGTGTCAGCATCCAGCAT	0.485																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(808-813)tccatcfs		paired box 9																																				SO:0001589	frameshift_variant	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37145441_37145442insC	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	Exception_encountered	14.37:g.37145441_37145442insC	ENSP00000355245:p.Ala271fs					PAX9_ENST00000402703.2_Frame_Shift_Ins_p.I271fs|PAX9_ENST00000554201.1_Frame_Shift_Ins_p.P80fs|PAX9_ENST00000557107.1_3'UTR	p.I271fs			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	4	1035_1036	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		271					Q99582|Q9UQR4	Frame_Shift_Ins	INS	ENST00000361487.6	37	c.810_811insC	CCDS9662.1																																																																																				0.485	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			17	428						17	428	---	---	---	---
NPC2	10577	broad.mit.edu	37	14	74947387	74947388	+	Intron	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr14:74947387_74947388insC	ENST00000555619.1	-	4	679				NPC2_ENST00000541064.1_Intron|MIR4709_ENST00000577272.1_RNA|NPC2_ENST00000557510.1_Frame_Shift_Ins_p.G153fs|NPC2_ENST00000434013.2_Intron|NPC2_ENST00000238633.2_Intron	NM_006432.3	NP_006423.1	P61916	NPC2_HUMAN	Niemann-Pick disease, type C2						cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|glycolipid transport (GO:0046836)|intracellular cholesterol transport (GO:0032367)|intracellular sterol transport (GO:0032366)|phospholipid transport (GO:0015914)|regulation of isoprenoid metabolic process (GO:0019747)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		ATGCCCTCTCACCCCCAGATAG	0.45																																					Pancreas(93;260 1497 8575 30964 48133)	ENST00000557510.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7						c.(457-459)ggafs		Niemann-Pick disease, type C2																																				SO:0001627	intron_variant	10577				cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding	g.chr14:74947387_74947388insC	X67698	CCDS32121.1	14q24.3	2009-09-12				ENSG00000119655			14537	protein-coding gene	gene with protein product	"""epididymal protein 1"""	601015				8418812, 11125141	Standard	NM_006432		Approved	HE1, NP-C2, EDDM1	uc001xpy.3	P61916		ENST00000555619.1:c.441+16->G	14.37:g.74947392_74947392dupC						NPC2_ENST00000555619.1_Intron|NPC2_ENST00000541064.1_Intron|NPC2_ENST00000434013.2_Intron|NPC2_ENST00000238633.2_Intron	p.G153fs			P61916	NPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00149)	4	530_531	-			0					B4DQV7|Q15668|Q29413	Frame_Shift_Ins	INS	ENST00000555619.1	37	c.458_459insG	CCDS32121.1																																																																																				0.450	NPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412346.1	NM_006432		7	855						7	855	---	---	---	---
PACS2	23241	broad.mit.edu	37	14	105818753	105818754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr14:105818753_105818754insC	ENST00000325438.8	+	3	750_751	c.246_247insC	c.(247-249)cccfs	p.P83fs	PACS2_ENST00000458164.2_Frame_Shift_Ins_p.P83fs|PACS2_ENST00000430725.2_Frame_Shift_Ins_p.P16fs|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000447393.1_Frame_Shift_Ins_p.P83fs			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	83					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGATTGTGCTGCCCCCCAGTGG	0.55											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(244-249)ctccccfs		phosphofurin acidic cluster sorting protein 2																																				SO:0001589	frameshift_variant	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105818753_105818754insC	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.252dupC	14.37:g.105818759_105818759dupC	ENSP00000321834:p.Pro83fs		OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000458164.2_Frame_Shift_Ins_p.LP82fs|PACS2_ENST00000325438.8_Frame_Shift_Ins_p.LP82fs|PACS2_ENST00000430725.2_Frame_Shift_Ins_p.LP15fs	p.LP82fs	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	3	421_422	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	82					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Frame_Shift_Ins	INS	ENST00000325438.8	37	c.246_247insC	CCDS32168.1																																																																																				0.550	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		7	666						7	666	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25449554	25449564	+	RNA	DEL	AAATCATTCTC	AAATCATTCTC	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr15:25449554_25449564delAAATCATTCTC	ENST00000424208.1	+	0	2339				SNORD115-19_ENST00000363098.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-20_ENST00000365099.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GATGACTTAAAAATCATTCTCAAAAGGATTA	0.512																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25449554_25449564delAAATCATTCTC			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.25449554_25449564delAAATCATTCTC						SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA		NR_003305.1						0	2339	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.512	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			24	173						24	173	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G	rs370777308		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	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		8	272						8	272	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89871987	89871988	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr15:89871987_89871988insC	ENST00000268124.5	-	5	1431_1432	c.1098_1099insG	c.(1096-1101)gggcctfs	p.P367fs	POLG_ENST00000442287.2_Frame_Shift_Ins_p.P367fs	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	367					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCTAAGGGAGGCCCCCCTACAT	0.559								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(1096-1101)ggctccfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma																																				SO:0001589	frameshift_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89871987_89871988insC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1099dupG	15.37:g.89871993_89871993dupC	ENSP00000268124:p.Pro367fs					POLG_ENST00000442287.2_Frame_Shift_Ins_p.S367fs	p.S367fs	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		5	1431_1432	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		367					Q8NFM2|Q92515	Frame_Shift_Ins	INS	ENST00000268124.5	37	c.1098_1099insG	CCDS10350.1																																																																																				0.559	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		7	450						7	450	---	---	---	---
FURIN	5045	broad.mit.edu	37	15	91424956	91424957	+	Frame_Shift_Ins	INS	-	-	G	rs35641241		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr15:91424956_91424957insG	ENST00000268171.3	+	16	2512_2513	c.2233_2234insG	c.(2233-2235)cggfs	p.R745fs	FES_ENST00000328850.3_5'Flank|FES_ENST00000414248.2_5'Flank|FES_ENST00000394302.1_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		13	673						13	673	---	---	---	---
LINS	55180	broad.mit.edu	37	15	101109855	101109856	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr15:101109855_101109856insG	ENST00000314742.8	-	7	2083_2084	c.1861_1862insC	c.(1861-1863)cggfs	p.R621fs	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	621								p.R621fs*13(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTGAGAGGCCCGGGGGGAAGAC	0.525																																						ENST00000314742.8																			1	Insertion - Frameshift(1)	p.R621fs*13(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						c.(1861-1863)ggcfs		lines homolog (Drosophila)																																				SO:0001589	frameshift_variant	55180							g.chr15:101109855_101109856insG	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1862dupC	15.37:g.101109861_101109861dupG	ENSP00000318423:p.Arg621fs						p.G621fs	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN			7	2083_2084	-			621					Q96FW2|Q9NVQ3	Frame_Shift_Ins	INS	ENST00000314742.8	37	c.1861_1862insC	CCDS10385.1																																																																																				0.525	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		7	755						7	755	---	---	---	---
DPEP2	64174	broad.mit.edu	37	16	68021467	68021468	+	Frame_Shift_Ins	INS	-	-	G	rs1133090	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr16:68021467_68021468insG	ENST00000572888.1	-	10	2052_2053	c.1402_1403insC	c.(1402-1404)cacfs	p.H468fs	DPEP2_ENST00000412757.2_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	468			H -> D (in dbSNP:rs1133090).		arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGGGCCATGTGGGGGGAGGAC	0.545																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1402-1404)catfs		dipeptidase 2																																				SO:0001589	frameshift_variant	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68021467_68021468insG	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1403dupC	16.37:g.68021473_68021473dupG	ENSP00000458977:p.His468fs					DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs	p.H468fs			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	12	2067_2068	-		Ovarian(137;0.192)	468		H -> D (in dbSNP:rs1133090).			B2RCF8|Q6UX92|Q8TC95	Frame_Shift_Ins	INS	ENST00000572888.1	37	c.1402_1403insC	CCDS10857.1																																																																																				0.545	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		17	1237						17	1237	---	---	---	---
NFATC3	4775	broad.mit.edu	37	16	68225520	68225521	+	Frame_Shift_Ins	INS	-	-	G	rs545945545|rs191644387		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr16:68225520_68225521insG	ENST00000346183.3	+	9	2972_2973	c.2948_2949insG	c.(2947-2952)caggggfs	p.QG983fs	NFATC3_ENST00000349223.5_Frame_Shift_Ins_p.QG983fs|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Frame_Shift_Ins_p.QG983fs|NFATC3_ENST00000329524.4_Frame_Shift_Ins_p.QG983fs|SNORA48_ENST00000391143.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	983					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AGTACGGGCCAGGGGGGTCTTT	0.505																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(2947-2949)cggfs		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3																																				SO:0001589	frameshift_variant	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68225520_68225521insG	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2954dupG	16.37:g.68225526_68225526dupG	ENSP00000300659:p.Gln983fs					NFATC3_ENST00000575270.1_Frame_Shift_Ins_p.R983fs|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Frame_Shift_Ins_p.R983fs|NFATC3_ENST00000329524.4_Frame_Shift_Ins_p.R983fs	p.R983fs	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	9	3172_3173	+		Ovarian(137;0.0563)	983					O75211|Q14516|Q99840|Q99841|Q99842	Frame_Shift_Ins	INS	ENST00000346183.3	37	c.2948_2949insG	CCDS10860.1																																																																																				0.505	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		8	1235						8	1235	---	---	---	---
SLC7A6	9057	broad.mit.edu	37	16	68325529	68325530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr16:68325529_68325530insG	ENST00000566454.1	+	8	1256_1257	c.987_988insG	c.(988-990)gggfs	p.G330fs	SLC7A6_ENST00000219343.6_Frame_Shift_Ins_p.G330fs	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TGTCCTGCTTTGGGGGCCTCAA	0.49																																						ENST00000566454.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16						c.(985-990)ttggggfs		solute carrier family 7 (amino acid transporter light chain, y+L system), member 6																																				SO:0001589	frameshift_variant	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68325529_68325530insG	D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.992dupG	16.37:g.68325534_68325534dupG	ENSP00000455064:p.Gly330fs					SLC7A6_ENST00000219343.6_Frame_Shift_Ins_p.LG329fs	p.LG329fs	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	8	1256_1257	+		Ovarian(137;0.0563)	329						Frame_Shift_Ins	INS	ENST00000566454.1	37	c.987_988insG	CCDS32470.1																																																																																				0.490	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983		8	1945						8	1945	---	---	---	---
SLC35G6	643664	broad.mit.edu	37	17	7386029	7386030	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:7386029_7386030insC	ENST00000412468.2	+	2	841_842	c.726_727insC	c.(727-729)cccfs	p.P243fs	ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	243						integral component of membrane (GO:0016021)		p.P243S(1)									TTGTGCTGCAGCCCCCCGTGTT	0.599																																						ENST00000412468.2																			1	Substitution - Missense(1)	p.P243S(1)	large_intestine(1)								c.(724-729)caccccfs		solute carrier family 35, member G6																																				SO:0001589	frameshift_variant	643664					integral to membrane		g.chr17:7386029_7386030insC		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.732dupC	17.37:g.7386035_7386035dupC	ENSP00000396523:p.Pro243fs					ZBTB4_ENST00000311403.4_Intron	p.HP242fs	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN			2	841_842	+			242						Frame_Shift_Ins	INS	ENST00000412468.2	37	c.726_727insC	CCDS45603.1																																																																																				0.599	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		7	290						7	290	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8218831	8218832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:8218831_8218832insC	ENST00000361926.3	+	7	1470_1471	c.1360_1361insC	c.(1360-1362)accfs	p.T454fs	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.T454fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	454	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGACACGCTCACCCCCCGTGAT	0.629																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1360-1362)cccfs		Rho guanine nucleotide exchange factor (GEF) 15																																				SO:0001589	frameshift_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8218831_8218832insC	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1366dupC	17.37:g.8218837_8218837dupC	ENSP00000355026:p.Thr454fs					ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P454fs	p.P454fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			7	1470_1471	+			454			DH.		A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	ENST00000361926.3	37	c.1360_1361insC	CCDS11139.1																																																																																				0.629	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		9	888						9	888	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8224297	8224298	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:8224297_8224298insC	ENST00000361926.3	+	16	2622_2623	c.2512_2513insC	c.(2512-2514)gccfs	p.A838fs	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.A838fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	838					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCCCAATGCCCCCCCACCC	0.574																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(2512-2514)cccfs		Rho guanine nucleotide exchange factor (GEF) 15																																				SO:0001589	frameshift_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8224297_8224298insC	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2519dupC	17.37:g.8224304_8224304dupC	ENSP00000355026:p.Ala838fs					ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P838fs	p.P838fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			16	2622_2623	+			838					A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	ENST00000361926.3	37	c.2512_2513insC	CCDS11139.1																																																																																				0.574	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		16	212						16	212	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11687648	11687649	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:11687648_11687649insG	ENST00000262442.4	+	41	7921_7922	c.7853_7854insG	c.(7852-7857)ccggggfs	p.PG2618fs	DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.PG2618fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2618	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P2618P(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCTCCTTCCCGGGGGCAGATG	0.53																																						ENST00000262442.3																			1	Substitution - coding silent(1)	p.P2618P(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7852-7854)cggfs		dynein, axonemal, heavy chain 9																																				SO:0001589	frameshift_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687648_11687649insG	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7858dupG	17.37:g.11687653_11687653dupG	ENSP00000262442:p.Pro2618fs					DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.R2618fs	p.R2618fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	7921_7922	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2618			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Ins	INS	ENST00000262442.4	37	c.7853_7854insG	CCDS11160.1																																																																																				0.530	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		8	720						8	720	---	---	---	---
TRIM16L	147166	broad.mit.edu	37	17	18638351	18638351	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:18638351delT	ENST00000449552.2	+	7	2109	c.625delT	c.(625-627)tacfs	p.Y209fs	TRIM16L_ENST00000395671.4_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000571708.1_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000572555.1_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000414850.2_Frame_Shift_Del_p.C121fs|TRIM16L_ENST00000395672.2_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000395902.3_Frame_Shift_Del_p.Y263fs			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	209	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GCAGAGTCTGTACCTGCACAG	0.612																																						ENST00000449552.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(625-627)acfs		tripartite motif containing 16-like							26.0	25.0	25.0					17																	18638351		2202	4279	6481	SO:0001589	frameshift_variant	147166					cytoplasm		g.chr17:18638351delT	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.625delT	17.37:g.18638351delT	ENSP00000461386:p.Tyr209fs					TRIM16L_ENST00000395671.4_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000395902.3_Frame_Shift_Del_p.Y263fs|TRIM16L_ENST00000414850.2_Frame_Shift_Del_p.C121fs|TRIM16L_ENST00000572555.1_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000571708.1_Frame_Shift_Del_p.Y209fs|TRIM16L_ENST00000395672.2_Frame_Shift_Del_p.Y209fs	p.Y209fs			Q309B1	TR16L_HUMAN			7	2109	+			209			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Frame_Shift_Del	DEL	ENST00000449552.2	37	c.625delT	CCDS32588.1																																																																																				0.612	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		8	87						8	87	---	---	---	---
RPL23	9349	broad.mit.edu	37	17	37008858	37008859	+	Splice_Site	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:37008858_37008859insT	ENST00000479035.2	-	3	356_357	c.224_225insA	c.(223-225)aag>aaAg	p.K75fs	RPL23_ENST00000577407.1_Splice_Site_p.K75fs|RPL23_ENST00000245857.5_Splice_Site_p.K16fs|RPL23_ENST00000394332.1_Splice_Site_p.K75fs|SNORA21_ENST00000362423.1_RNA|RPL23_ENST00000394333.1_Splice_Site_p.K75fs|SNORA21_ENST00000516890.1_RNA	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	75					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal protein import into nucleus (GO:0006610)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						TTTACTCACCCTTTTTTCTGAG	0.485																																						ENST00000479035.2																			0				endometrium(2)|large_intestine(1)	3						c.e3+1		ribosomal protein L23																																				SO:0001630	splice_region_variant	9349				endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr17:37008858_37008859insT	X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"""L ribosomal proteins"""	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.226+1->A	17.37:g.37008864_37008864dupT						RPL23_ENST00000245857.5_Splice_Site_p.S16_splice|RPL23_ENST00000394333.1_Splice_Site_p.S75_splice|RPL23_ENST00000394332.1_Splice_Site_p.S75_splice|RPL23_ENST00000577407.1_Splice_Site_p.S75_splice	p.S75_splice	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN			3	356_357	-			75					P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Splice_Site	INS	ENST00000479035.2	37	c.226_splice	CCDS11330.1																																																																																				0.485	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256785.3	NM_000978	Frame_Shift_Ins	7	619						7	619	---	---	---	---
STAC2	342667	broad.mit.edu	37	17	37373352	37373353	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:37373352_37373353insA	ENST00000333461.5	-	3	840_841	c.471_472insT	c.(469-474)tcccacfs	p.H158fs		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	158					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CATTGCTGGTGGGAGATCTCCT	0.55																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(469-474)tcaccafs		SH3 and cysteine rich domain 2																																				SO:0001589	frameshift_variant	342667				intracellular signal transduction		metal ion binding	g.chr17:37373352_37373353insA	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.471_472insT	17.37:g.37373352_37373353insA	ENSP00000327509:p.His158fs						p.P158fs	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			3	840_841	-			158					Q32MA3	Frame_Shift_Ins	INS	ENST00000333461.5	37	c.471_472insT	CCDS11335.1																																																																																				0.550	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		12	120						12	120	---	---	---	---
SMARCE1	6605	broad.mit.edu	37	17	38787144	38787145	+	In_Frame_Ins	INS	-	-	ACT			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:38787144_38787145insACT	ENST00000348513.6	-	10	1628_1629	c.848_849insAGT	c.(847-849)gag>gaAGTg	p.283_284insV	SMARCE1_ENST00000400122.3_In_Frame_Ins_p.213_214insV|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_In_Frame_Ins_p.248_249insV|SMARCE1_ENST00000544009.1_In_Frame_Ins_p.213_214insV|SMARCE1_ENST00000578044.1_In_Frame_Ins_p.213_214insV|SMARCE1_ENST00000377808.4_In_Frame_Ins_p.248_249insV|SMARCE1_ENST00000431889.2_In_Frame_Ins_p.265_266insV	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	283					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				CTGCAATTTTCTCCATATCCAC	0.45																																						ENST00000348513.6																			0				large_intestine(1)	1						c.(847-849)gaa>gAGTaa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1																																				SO:0001652	inframe_insertion	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38787144_38787145insACT	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.848_849insAGT	17.37:g.38787144_38787145insACT	ENSP00000323967:p.Glu283_Lys284insVal					SMARCE1_ENST00000377808.4_In_Frame_Ins_p.248_249ins*|SMARCE1_ENST00000544009.1_In_Frame_Ins_p.213_214ins*|SMARCE1_ENST00000580419.1_In_Frame_Ins_p.248_249ins*|SMARCE1_ENST00000578044.1_In_Frame_Ins_p.213_214ins*|SMARCE1_ENST00000431889.2_In_Frame_Ins_p.265_266ins*|SMARCE1_ENST00000400122.3_In_Frame_Ins_p.213_214ins*|KRT222_ENST00000476049.1_3'UTR	p.283_284ins*	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			10	1628_1629	-		Breast(137;0.000812)	283					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	In_Frame_Ins	INS	ENST00000348513.6	37	c.848_849insAGT	CCDS11370.1																																																																																				0.450	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		10	189						10	189	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		10	128						10	128	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57733326	57733327	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:57733326_57733327insT	ENST00000269122.3	+	6	1181_1182	c.907_908insT	c.(907-909)attfs	p.I303fs	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Frame_Shift_Ins_p.I303fs	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	303	Globular terminal domain.|WD40-like repeat 7.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGGAGAAACAATTTTTGTTACT	0.371			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(907-909)tttfs		clathrin, heavy chain (Hc)																																				SO:0001589	frameshift_variant	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57733326_57733327insT	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.912dupT	17.37:g.57733331_57733331dupT	ENSP00000269122:p.Ile303fs					CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Frame_Shift_Ins_p.F303fs	p.F303fs	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			6	1181_1182	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		303			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Frame_Shift_Ins	INS	ENST00000269122.3	37	c.907_908insT	CCDS32696.1																																																																																				0.371	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		222	155						222	155	---	---	---	---
PRKCA	5578	broad.mit.edu	37	17	64683327	64683328	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:64683327_64683328insA	ENST00000413366.3	+	6	654_655	c.628_629insA	c.(628-630)caafs	p.Q210fs		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	210	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)	TGAAAGCAAGCAAAAAACCAAA	0.401																																						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.(628-630)aaafs		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	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.chr17:64683327_64683328insA		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.634dupA	17.37:g.64683333_64683333dupA	ENSP00000408695:p.Gln210fs						p.K210fs	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		6	654_655	+			210			C2.		B5BU22|Q15137|Q32M72|Q96RE4	Frame_Shift_Ins	INS	ENST00000413366.3	37	c.628_629insA	CCDS11664.1																																																																																				0.401	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			9	370						9	370	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73493880	73493881	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	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|KIAA0195_ENST00000375248.5_Frame_Shift_Ins_p.P1153fs|AC100787.1_ENST00000579379.1_RNA	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_ENST00000579208.1_Frame_Shift_Ins_p.NP793fs|KIAA0195_ENST00000375248.5_Frame_Shift_Ins_p.NP1152fs	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		89	2207						89	2207	---	---	---	---
RNF157	114804	broad.mit.edu	37	17	74155492	74155493	+	Frame_Shift_Ins	INS	-	-	G	rs111326194|rs371830946	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:74155492_74155493insG	ENST00000269391.6	-	12	1359_1360	c.1227_1228insC	c.(1225-1230)cccgtcfs	p.V410fs	RNF157_ENST00000319945.6_Frame_Shift_Ins_p.V410fs	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	410							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ATCGTCCTGACGGGGGGCAGGT	0.584																																					GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(1225-1230)cctcagfs		ring finger protein 157																																				SO:0001589	frameshift_variant	114804						zinc ion binding	g.chr17:74155492_74155493insG	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1228dupC	17.37:g.74155498_74155498dupG	ENSP00000269391:p.Val410fs					RNF157_ENST00000319945.6_Frame_Shift_Ins_p.Q410fs	p.Q410fs	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		12	1359_1360	-			410					Q8NB72|Q96N56	Frame_Shift_Ins	INS	ENST00000269391.6	37	c.1227_1228insC	CCDS32740.1																																																																																				0.584	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		7	255						7	255	---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80758858	80758860	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr17:80758858_80758860delGGT	ENST00000355528.4	+	9	1066_1068	c.936_938delGGT	c.(934-939)aaggtg>aag	p.V313del	TBCD_ENST00000397466.2_De_novo_Start_OutOfFrame|TBCD_ENST00000539345.2_In_Frame_Del_p.V313del	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	313					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TGAAGCCGAAGGTGGCAGCATGG	0.675																																						ENST00000397466.2																			0													tubulin folding cofactor D																																				SO:0001651	inframe_deletion	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80758858_80758860delGGT	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.936_938delGGT	17.37:g.80758858_80758860delGGT	ENSP00000347719:p.Val313del					TBCD_ENST00000539345.2_In_Frame_Del_p.KV312del|TBCD_ENST00000355528.4_In_Frame_Del_p.KV312del				Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		0	1045_1047	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)						O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Translation_Start_Site	DEL	ENST00000355528.4	37		CCDS45818.1																																																																																				0.675	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		7	36						7	36	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13113612	13113613	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr18:13113612_13113613insG	ENST00000325971.8	+	39	6880_6881	c.5287_5288insG	c.(5287-5289)aggfs	p.R1763fs	CEP192_ENST00000506447.1_Frame_Shift_Ins_p.R2359fs|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Frame_Shift_Ins_p.R1884fs			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1763					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						GCCCAGAGGTAGGGGGGATTAT	0.426																																						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.(7075-7077)gggfs		centrosomal protein 192kDa																																				SO:0001589	frameshift_variant	55125							g.chr18:13113612_13113613insG	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.5293dupG	18.37:g.13113618_13113618dupG	ENSP00000317156:p.Arg1763fs					CEP192_ENST00000325971.8_Frame_Shift_Ins_p.G1763fs|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Frame_Shift_Ins_p.G1884fs	p.G2359fs	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			41	7155_7156	+			1954					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Frame_Shift_Ins	INS	ENST00000325971.8	37	c.7075_7076insG																																																																																					0.426	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		7	309						7	309	---	---	---	---
TRAPPC8	22878	broad.mit.edu	37	18	29437545	29437546	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr18:29437545_29437546insGG	ENST00000283351.4	-	20	3480_3481	c.3145_3146insCC	c.(3145-3147)tttfs	p.F1049fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.F995fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1049					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAAAACAAAAAGTTAATTTCA	0.376																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3145-3147)tttfs		trafficking protein particle complex 8																																				SO:0001589	frameshift_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29437545_29437546insGG	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3145_3146insCC	18.37:g.29437545_29437546insGG	ENSP00000283351:p.Phe1049fs					TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.F995fs	p.F1049fs	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			20	3480_3481	-			1049					A0JP15|B3KME5|Q9H0L2	Frame_Shift_Ins	INS	ENST00000283351.4	37	c.3145_3146insCC	CCDS11901.1																																																																																				0.376	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		19	149						19	149	---	---	---	---
ATP8B1	5205	broad.mit.edu	37	18	55317669	55317669	+	Frame_Shift_Del	DEL	G	G	-	rs112600442		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr18:55317669delG	ENST00000283684.4	-	26	3460	c.3461delC	c.(3460-3462)gctfs	p.A1154fs	ATP8B1_ENST00000536015.1_Frame_Shift_Del_p.A1154fs|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1154					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TAAGCACACAGCAACAGCCAG	0.433																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(3460-3462)gtfs		ATPase, aminophospholipid transporter, class I, type 8B, member 1							184.0	146.0	159.0					18																	55317669		2203	4300	6503	SO:0001589	frameshift_variant	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55317669delG	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3461delC	18.37:g.55317669delG	ENSP00000283684:p.Ala1154fs					RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Frame_Shift_Del_p.A1154fs|RP11-35G9.3_ENST00000591854.1_RNA	p.A1154fs	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			27	3580	-		Colorectal(73;0.229)	1154					Q9BTP8	Frame_Shift_Del	DEL	ENST00000283684.4	37	c.3461delC	CCDS11965.1																																																																																				0.433	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		21	400						21	400	---	---	---	---
LRG1	116844	broad.mit.edu	37	19	4538452	4538453	+	Frame_Shift_Ins	INS	-	-	G	rs371534593|rs545216965		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:4538452_4538453insG	ENST00000306390.6	-	2	1003_1004	c.543_544insC	c.(541-546)cccgggfs	p.G182fs	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	182					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGCCCGGGGGGCAGTT	0.619																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(541-546)ccggctfs		leucine-rich alpha-2-glycoprotein 1																																				SO:0001589	frameshift_variant	116844					extracellular region|membrane		g.chr19:4538452_4538453insG		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.544dupC	19.37:g.4538458_4538458dupG	ENSP00000302621:p.Gly182fs					CTB-50L17.14_ENST00000586020.1_Intron	p.A182fs	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1003_1004	-		Hepatocellular(1079;0.137)	182					Q8N4F5|Q96QZ4	Frame_Shift_Ins	INS	ENST00000306390.6	37	c.543_544insC	CCDS12130.1																																																																																				0.619	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		9	369						9	369	---	---	---	---
ZNRF4	148066	broad.mit.edu	37	19	5456529	5456530	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:5456529_5456530insC	ENST00000222033.4	+	1	1104_1105	c.1027_1028insC	c.(1027-1029)gccfs	p.A343fs		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	343						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTTCTCCCAAGCCCCCCGGCGC	0.609																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1027-1029)cccfs		zinc and ring finger 4																																				SO:0001589	frameshift_variant	148066					integral to membrane	zinc ion binding	g.chr19:5456529_5456530insC	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1033dupC	19.37:g.5456535_5456535dupC	ENSP00000222033:p.Ala343fs						p.P343fs	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	1104_1105	+			343					A8K886|O75866	Frame_Shift_Ins	INS	ENST00000222033.4	37	c.1027_1028insC	CCDS42475.1																																																																																				0.609	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		7	210						7	210	---	---	---	---
AP1M1	8907	broad.mit.edu	37	19	16314383	16314384	+	Frame_Shift_Ins	INS	-	-	G	rs146546344	byFrequency	TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:16314383_16314384insG	ENST00000291439.3	+	2	605_606	c.156_157insG	c.(157-159)gggfs	p.G53fs	AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.G53fs|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.G53fs|AP1M1_ENST00000541844.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	53					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCCTGGCCCACGGGGGGGTCCG	0.594																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(154-159)caggggfs		adaptor-related protein complex 1, mu 1 subunit																																				SO:0001589	frameshift_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16314383_16314384insG		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.163dupG	19.37:g.16314390_16314390dupG	ENSP00000291439:p.Gly53fs					AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.QG52fs	p.QG52fs	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			2	605_606	+			52					Q4TTY5	Frame_Shift_Ins	INS	ENST00000291439.3	37	c.156_157insG	CCDS12342.1																																																																																				0.594	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		11	371						11	371	---	---	---	---
HAUS5	23354	broad.mit.edu	37	19	36113838	36113840	+	In_Frame_Del	DEL	CCA	CCA	-	rs373279391		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:36113838_36113840delCCA	ENST00000203166.5	+	19	1870_1872	c.1845_1847delCCA	c.(1843-1848)ccccag>ccg	p.Q616del	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	616					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TGTCCCTGCCCCAGTGGCGGCTG	0.655																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(1843-1848)ccg>cc		HAUS augmin-like complex, subunit 5																																				SO:0001651	inframe_deletion	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36113838_36113840delCCA	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1845_1847delCCA	19.37:g.36113838_36113840delCCA	ENSP00000439056:p.Gln616del					HAUS5_ENST00000379045.2_3'UTR	p.PQ615del	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			19	1870_1872	+			615					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	In_Frame_Del	DEL	ENST00000203166.5	37	c.1845_1847delCCA	CCDS42550.1																																																																																				0.655	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			13	121						13	121	---	---	---	---
ZBTB32	27033	broad.mit.edu	37	19	36205537	36205538	+	Frame_Shift_Ins	INS	-	-	C	rs572240684		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:36205537_36205538insC	ENST00000392197.2	+	3	327_328	c.9_10insC	c.(10-12)cccfs	p.P4fs	ZBTB32_ENST00000262630.3_Frame_Shift_Ins_p.P4fs			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	4					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAATGTCCCTGCCCCCCATAAG	0.569																																						ENST00000392197.2																			0				large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.(7-12)ctccccfs		zinc finger and BTB domain containing 32																																				SO:0001589	frameshift_variant	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36205537_36205538insC	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.15dupC	19.37:g.36205543_36205543dupC	ENSP00000376035:p.Pro4fs					ZBTB32_ENST00000262630.3_Frame_Shift_Ins_p.LP3fs	p.LP3fs			Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	327_328	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		3					Q8WVP2	Frame_Shift_Ins	INS	ENST00000392197.2	37	c.9_10insC	CCDS12471.1																																																																																				0.569	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		7	547						7	547	---	---	---	---
HCST	10870	broad.mit.edu	37	19	36393526	36393527	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:36393526_36393527insT	ENST00000246551.4	+	1	145_146	c.31_32insT	c.(31-33)cttfs	p.L11fs	NFKBID_ENST00000585544.1_5'Flank|HCST_ENST00000437550.2_Frame_Shift_Ins_p.L11fs|NFKBID_ENST00000396901.1_5'Flank|NFKBID_ENST00000352614.2_5'Flank|NFKBID_ENST00000606253.1_5'Flank			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	11					positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of immune response (GO:0050776)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase binding (GO:0043548)|receptor binding (GO:0005102)			lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCTTCCTGCTTTTGCTCCCA	0.584																																						ENST00000246551.4																			0				lung(4)	4						c.(31-33)tttfs		hematopoietic cell signal transducer																																				SO:0001589	frameshift_variant	10870				regulation of immune response	integral to membrane|plasma membrane		g.chr19:36393526_36393527insT	AF072844	CCDS32998.1, CCDS46057.1	19q13.1	2009-05-07	2003-10-14	2003-10-15	ENSG00000126264	ENSG00000126264			16977	protein-coding gene	gene with protein product	"""DNAX-activation protein 10"", ""kinase assoc pro of ~10kDa"""	604089	"""phosphoinositide-3-kinase adaptor protein"""	PIK3AP		10426994	Standard	NM_014266		Approved	DAP10, DKFZP586C1522, KAP10	uc002ocl.1	Q9UBK5	OTTHUMG00000048132	ENST00000246551.4:c.35dupT	19.37:g.36393530_36393530dupT	ENSP00000246551:p.Leu11fs					HCST_ENST00000437550.2_Frame_Shift_Ins_p.F11fs	p.F11fs			Q9UBK5	HCST_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		1	145_146	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		11					Q9UBS1|Q9Y3Y0	Frame_Shift_Ins	INS	ENST00000246551.4	37	c.31_32insT	CCDS32998.1																																																																																				0.584	HCST-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109520.3	NM_014266		9	1375						9	1375	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40433028	40433028	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:40433028delC	ENST00000221347.6	-	2	1248	c.1241delG	c.(1240-1242)ggafs	p.G414fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	414	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)			GGTGAGCAGTCCCAAGTTGGT	0.597																																						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.(1240-1242)gafs		Fc fragment of IgG binding protein							86.0	71.0	77.0					19																	40433028		2203	4300	6503	SO:0001589	frameshift_variant	8857					extracellular region	protein binding	g.chr19:40433028delC	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.1241delG	19.37:g.40433028delC	ENSP00000221347:p.Gly414fs						p.G414fs	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	1248	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		414			IgGFc-binding.		O95784	Frame_Shift_Del	DEL	ENST00000221347.6	37	c.1241delG	CCDS12546.1																																																																																				0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		19	187						19	187	---	---	---	---
EHD2	30846	broad.mit.edu	37	19	48244286	48244287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:48244286_48244287insG	ENST00000263277.3	+	6	1480_1481	c.1229_1230insG	c.(1228-1233)caggggfs	p.QG410fs	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Frame_Shift_Ins_p.QG274fs	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	410					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GTGGGCGTGCAGGGGGGCGCTT	0.673																																						ENST00000263277.3																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(1228-1230)cggfs		EH-domain containing 2																																				SO:0001589	frameshift_variant	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48244286_48244287insG	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1235dupG	19.37:g.48244292_48244292dupG	ENSP00000263277:p.Gln410fs					EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Frame_Shift_Ins_p.R274fs	p.R410fs	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	6	1480_1481	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	410					B2RDH9|B4DNU6|Q96CB6	Frame_Shift_Ins	INS	ENST00000263277.3	37	c.1229_1230insG	CCDS12704.1																																																																																				0.673	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			8	271						8	271	---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50216300	50216301	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:50216300_50216301insA	ENST00000392518.4	+	19	2577_2578	c.2205_2206insA	c.(2206-2208)aaafs	p.K736fs	CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.K725fs|CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.K647fs|CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.K736fs|CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.K736fs	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	736					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ACATCTCCAGCAAAAAATCAAG	0.505																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2203-2208)agaaaafs		carnitine palmitoyltransferase 1C																																				SO:0001589	frameshift_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50216300_50216301insA	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.2211dupA	19.37:g.50216306_50216306dupA	ENSP00000376303:p.Lys736fs					CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.RK735fs|CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.RK724fs|CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.RK646fs|CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.RK735fs	p.RK735fs	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	19	2577_2578	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	735					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Frame_Shift_Ins	INS	ENST00000392518.4	37	c.2205_2206insA	CCDS12779.1																																																																																				0.505	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		8	1054						8	1054	---	---	---	---
ZNF528	84436	broad.mit.edu	37	19	52919519	52919519	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:52919519delA	ENST00000360465.3	+	7	1840	c.1414delA	c.(1414-1416)aaafs	p.K472fs	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	472					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)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGAATGTGGCAAAGTCTTCAG	0.398																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1414-1416)aafs		zinc finger protein 528							58.0	57.0	58.0					19																	52919519		2203	4300	6503	SO:0001589	frameshift_variant	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919519delA	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1414delA	19.37:g.52919519delA	ENSP00000353652:p.Lys472fs					ZNF528_ENST00000391788.2_3'UTR	p.K472fs	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1840	+			472					B3KPN4|Q86T88|Q96JK0	Frame_Shift_Del	DEL	ENST00000360465.3	37	c.1414delA	CCDS33091.1																																																																																				0.398	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		9	358						9	358	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55324675	55324675	+	Intron	DEL	A	A	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr19:55324675delA	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR2DL4_ENST00000396284.2_Frame_Shift_Del_p.K268fs|KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000357494.4_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.M271fs*>3(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532																																						ENST00000396284.2																			1	Deletion - Frameshift(1)	p.M271fs*>3(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17						c.(796-798)aafs		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4			,,	51,3917		3,45,1936	66.0	101.0	90.0		,,	-1.0	0.0	19	dbSNP_134	94	51,8005		2,47,3979	no	frameshift,frameshift,intron	KIR2DL4	NM_002255.5,NM_001080772.1,NM_001080770.1	,,	5,92,5915	A1A1,A1R,RR		0.6331,1.2853,0.8483	,,	,,	55324675	102,11922	2077	4226	6303	SO:0001627	intron_variant	3805							g.chr19:55324675delA	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-4314A>-	19.37:g.55324675delA						KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs	p.K268fs						GBM - Glioblastoma multiforme(193;0.0192)	6	796	+								O43473|Q14946|Q16541	Frame_Shift_Del	DEL	ENST00000538269.1	37	c.796delA																																																																																					0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		11	1376						11	1376	---	---	---	---
TBC1D10A	83874	broad.mit.edu	37	22	30691731	30691732	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr22:30691731_30691732insC	ENST00000215790.7	-	4	682_683	c.518_519insG	c.(517-519)ggcfs	p.G173fs	TBC1D10A_ENST00000403477.3_Frame_Shift_Ins_p.G180fs|RP1-130H16.18_ENST00000447976.1_Frame_Shift_Ins_p.G47fs|TBC1D10A_ENST00000403362.1_Frame_Shift_Ins_p.G85fs	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	173	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTCACCCGTGGCCCCCCCGGGA	0.609																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(517-519)gcafs		TBC1 domain family, member 10A																																				SO:0001589	frameshift_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30691731_30691732insC	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.519dupG	22.37:g.30691738_30691738dupC	ENSP00000215790:p.Gly173fs					RP1-130H16.18_ENST00000447976.1_Frame_Shift_Ins_p.A47fs|TBC1D10A_ENST00000403362.1_Frame_Shift_Ins_p.A85fs|TBC1D10A_ENST00000403477.3_Frame_Shift_Ins_p.A180fs	p.A173fs	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			4	682_683	-			173			Rab-GAP TBC.		B3KXT8|O76053|Q20WK7|Q543A2	Frame_Shift_Ins	INS	ENST00000215790.7	37	c.518_519insG	CCDS13874.1																																																																																				0.609	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		7	122						7	122	---	---	---	---
POLR2F	5435	broad.mit.edu	37	22	38363690	38363691	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr22:38363690_38363691insG	ENST00000442738.2	+	5	477_478	c.352_353insG	c.(352-354)tggfs	p.W118fs	POLR2F_ENST00000470701.1_Frame_Shift_Ins_p.W113fs|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	118					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CTATGAAGACTGGGGGGTGGAC	0.515																																						ENST00000442738.2																			0				breast(1)|urinary_tract(2)	3						c.(352-354)gggfs		polymerase (RNA) II (DNA directed) polypeptide F																																				SO:0001589	frameshift_variant	5435				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity	g.chr22:38363690_38363691insG		CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.358dupG	22.37:g.38363696_38363696dupG	ENSP00000403852:p.Trp118fs					POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000470701.1_Frame_Shift_Ins_p.G113fs|POLR2F_ENST00000484894.1_Intron	p.G118fs	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN			5	477_478	+	Melanoma(58;0.045)		118					P41584|Q6IAY3	Frame_Shift_Ins	INS	ENST00000442738.2	37	c.352_353insG	CCDS13963.1																																																																																				0.515	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321570.1	NM_021974		8	351						8	351	---	---	---	---
TTLL1	25809	broad.mit.edu	37	22	43471583	43471584	+	Frame_Shift_Ins	INS	-	-	C	rs79088468		TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chr22:43471583_43471584insC	ENST00000266254.7	-	3	249_250	c.9_10insG	c.(7-12)gggaaafs	p.K4fs	TTLL1_ENST00000331018.7_Frame_Shift_Ins_p.K4fs|TTLL1_ENST00000445824.1_Frame_Shift_Ins_p.K4fs	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	4	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CATTTTACTTTCCCTGCCATAA	0.401																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(7-12)ggaagtfs		tubulin tyrosine ligase-like family, member 1																																				SO:0001589	frameshift_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43471583_43471584insC	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.10dupG	22.37:g.43471586_43471586dupC	ENSP00000266254:p.Lys4fs					TTLL1_ENST00000266254.7_Frame_Shift_Ins_p.S4fs|TTLL1_ENST00000445824.1_Frame_Shift_Ins_p.S4fs	p.S4fs			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	3	249_250	-		Ovarian(80;0.0694)	4			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Frame_Shift_Ins	INS	ENST00000266254.7	37	c.9_10insG	CCDS14043.1																																																																																				0.401	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		8	1478						8	1478	---	---	---	---
SLC9A7	84679	broad.mit.edu	37	X	46529118	46529118	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chrX:46529118delA	ENST00000328306.4	-	5	742	c.717delT	c.(715-717)attfs	p.I239fs		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	239					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GCTGTCCCATAATCTTCATGA	0.383																																					Pancreas(118;454 1696 1930 13865 39976)	ENST00000328306.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(715-717)atfs		solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7							101.0	87.0	91.0					X																	46529118		2203	4300	6503	SO:0001589	frameshift_variant	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46529118delA	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.717delT	X.37:g.46529118delA	ENSP00000330320:p.Ile239fs						p.I239fs	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN			5	742	-			239					O75827|Q5JXP9	Frame_Shift_Del	DEL	ENST00000328306.4	37	c.717delT	CCDS14269.1																																																																																				0.383	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		8	208						8	208	---	---	---	---
NSDHL	50814	broad.mit.edu	37	X	152037406	152037407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01W-0886-08	TCGA-AS-3778-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92941393-2b36-4cf5-ab01-f1ba3f8f15df	851ae5d5-c3ea-4108-93ea-e383ea566af3	g.chrX:152037406_152037407insC	ENST00000370274.3	+	8	1062_1063	c.868_869insC	c.(868-870)gccfs	p.A290fs	NSDHL_ENST00000440023.1_Frame_Shift_Ins_p.A290fs	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	290					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAATTATGAGGCCCCCAAGTAC	0.559																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(868-870)cccfs		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)																																			SO:0001589	frameshift_variant	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037406_152037407insC	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.873dupC	X.37:g.152037411_152037411dupC	ENSP00000359297:p.Ala290fs					NSDHL_ENST00000440023.1_Frame_Shift_Ins_p.P290fs	p.P290fs	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			8	1062_1063	+	Acute lymphoblastic leukemia(192;6.56e-05)		290					D3DWT6|O00344	Frame_Shift_Ins	INS	ENST00000370274.3	37	c.868_869insC	CCDS14717.1																																																																																				0.559	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		7	1649						7	1649	---	---	---	---
