#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
CUBN	8029	broad.mit.edu	37	10	16970247	16970247	+	Silent	SNP	C	C	A	rs534571792		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:16970247C>A	ENST00000377833.4	-	41	6245	c.6180G>T	c.(6178-6180)ggG>ggT	p.G2060G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2060	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCGGATGGGCCCAGGGATCT	0.478																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(6178-6180)ggG>ggT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						71.0	67.0	68.0					10																	16970247		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16970247C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6180G>T	10.37:g.16970247C>A							p.G2060G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			41	6245	-			2060			CUB 14.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.6180G>T	CCDS7113.1																																																																																				0.478	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		9	289	1	0	0.00448238	1	0.00450906	9	289				
RTN4RL1	146760	broad.mit.edu	37	17	1840990	1840990	+	Silent	SNP	C	C	T	rs200721283		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:1840990C>T	ENST00000331238.6	-	2	605	c.126G>A	c.(124-126)gcG>gcA	p.A42A		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CAAAGTTGTGCGCCTGGCAGC	0.672													C|||	0	0.0	0.0	0.0	5008	,	,		16733	0.0		0.0	False		,,,				2504	0.0				GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(124-126)gcG>gcA		reticulon 4 receptor-like 1							38.0	47.0	44.0					17																	1840990		2149	4248	6397	SO:0001819	synonymous_variant	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840990C>T	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.126G>A	17.37:g.1840990C>T							p.A42A	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	144	-			42			LRRNT.			Silent	SNP	ENST00000331238.6	37	c.126G>A	CCDS45569.1																																																																																				0.672	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		18	87	0	0	0	1	0	18	87				
IGSF10	285313	broad.mit.edu	37	3	151155325	151155325	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:151155325G>C	ENST00000282466.3	-	6	7023	c.7024C>G	c.(7024-7026)Cca>Gca	p.P2342A	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2342	Ig-like C2-type 10.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCATTAAATGGATTTCTAAAT	0.423																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(7024-7026)Cca>Gca		immunoglobulin superfamily, member 10							118.0	120.0	119.0					3																	151155325		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155325G>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7024C>G	3.37:g.151155325G>C	ENSP00000282466:p.Pro2342Ala					IGSF10_ENST00000495443.1_5'UTR	p.P2342A	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	7023	-			2342			Ig-like C2-type 10.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.7024C>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173936	0.78452	.	.	ENSG00000152580	ENST00000282466	T	0.66815	-0.23	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000299	T	0.82254	0.4997	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82118	-0.0615	10	0.56958	D	0.05	.	19.9792	0.97320	0.0:0.0:1.0:0.0	.	2342;369	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	A	2342	ENSP00000282466:P2342A	ENSP00000282466:P2342A	P	-	1	0	IGSF10	152638015	1.000000	0.71417	0.549000	0.28204	0.904000	0.53231	9.414000	0.97362	2.727000	0.93392	0.591000	0.81541	CCA		0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		30	881	0	0	0	1	0	30	881				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		8	223	0	0	0	1	0	8	223				
LUC7L3	51747	broad.mit.edu	37	17	48821167	48821167	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:48821167C>T	ENST00000505658.1	+	6	716	c.527C>T	c.(526-528)aCg>aTg	p.T176M	LUC7L3_ENST00000393227.2_Missense_Mutation_p.T176M|LUC7L3_ENST00000544170.1_Missense_Mutation_p.T100M|LUC7L3_ENST00000240304.1_Missense_Mutation_p.T176M			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	176					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGGTCCACAACGTCGGTGAGT	0.368																																						ENST00000505658.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						c.(526-528)aCg>aTg		LUC7-like 3 (S. cerevisiae)							86.0	87.0	87.0					17																	48821167		2203	4300	6503	SO:0001583	missense	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48821167C>T		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.527C>T	17.37:g.48821167C>T	ENSP00000425092:p.Thr176Met					LUC7L3_ENST00000393227.2_Missense_Mutation_p.T176M|LUC7L3_ENST00000240304.1_Missense_Mutation_p.T176M|LUC7L3_ENST00000544170.1_Missense_Mutation_p.T100M	p.T176M			O95232	LC7L3_HUMAN			6	716	+			176					B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	c.527C>T	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970220	0.34754	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000544170	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.48	5.48	0.80851	.	0.097706	0.64402	D	0.000001	T	0.37489	0.1005	N	0.16478	0.41	0.53005	D	0.99996	P;D;D	0.67145	0.629;0.988;0.996	B;P;P	0.58928	0.091;0.761;0.848	T	0.13282	-1.0515	10	0.38643	T	0.18	-7.8056	19.7073	0.96079	0.0:1.0:0.0:0.0	.	100;176;176	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	M	176;176;176;176;100	ENSP00000425092:T176M;ENSP00000376919:T176M;ENSP00000240304:T176M;ENSP00000444253:T100M	ENSP00000240304:T176M	T	+	2	0	LUC7L3	46176166	1.000000	0.71417	0.963000	0.40424	0.042000	0.13812	5.910000	0.69931	2.722000	0.93159	0.557000	0.71058	ACG		0.368	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		36	246	0	0	0	1	0	36	246				
OR2L13	284521	broad.mit.edu	37	1	248262826	248262826	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:248262826T>G	ENST00000358120.2	+	2	294	c.149T>G	c.(148-150)gTg>gGg	p.V50G	OR2L13_ENST00000366478.2_Missense_Mutation_p.V50G			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTCATCCACGTGGATCCTCGT	0.502																																						ENST00000366478.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(148-150)gTg>gGg		olfactory receptor, family 2, subfamily L, member 13							229.0	214.0	219.0					1																	248262826		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262826T>G	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.149T>G	1.37:g.248262826T>G	ENSP00000350836:p.Val50Gly					OR2L13_ENST00000358120.2_Missense_Mutation_p.V50G	p.V50G	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	486	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		50					Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.149T>G	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	T	8.900	0.956010	0.18507	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.03004	4.08;4.08	4.07	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.615698	0.13314	N	0.397234	T	0.02807	0.0084	L	0.28014	0.82	0.09310	N	1	B	0.24258	0.1	B	0.21708	0.036	T	0.44697	-0.9311	10	0.54805	T	0.06	.	2.5302	0.04701	0.2215:0.1561:0.0:0.6224	.	50	Q8N349	OR2LD_HUMAN	G	50	ENSP00000355434:V50G;ENSP00000350836:V50G	ENSP00000350836:V50G	V	+	2	0	OR2L13	246329449	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	-3.499000	0.00450	0.580000	0.29522	0.528000	0.53228	GTG		0.502	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		29	732	0	0	0	1	0	29	732				
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	T	C	rs376234691		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:18887699T>C	ENST00000446231.2	-	13	2049	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_ENST00000565224.1_Missense_Mutation_p.H520R|SMG1_ENST00000389467.3_Missense_Mutation_p.H546R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	546	Interaction with SMG8 and SMG9.		H -> R. {ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|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)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H542R(2)|p.H546R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAAACAGCATGGGCTACAGC	0.333																																						ENST00000446231.2																			3	Substitution - Missense(3)	p.H542R(2)|p.H546R(1)	kidney(2)|skin(1)	NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(1636-1638)cAt>cGt		SMG1 phosphatidylinositol 3-kinase-related kinase							16.0	14.0	14.0					16																	18887699		1793	4006	5799	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18887699T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1637A>G	16.37:g.18887699T>C	ENSP00000402515:p.His546Arg					SMG1_ENST00000389467.3_Missense_Mutation_p.H546R|SMG1_ENST00000565224.1_Missense_Mutation_p.H520R	p.H546R			Q96Q15	SMG1_HUMAN			13	2049	-			546		H -> R.	Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.1637A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550408	0.45383	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01076	5.37;5.37	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.64402	U	0.000003	T	0.01124	0.0037	N	0.24115	0.695	0.38158	D	0.938958	B	0.26445	0.149	B	0.24541	0.054	T	0.66618	-0.5878	10	0.25106	T	0.35	.	11.8709	0.52519	0.1306:0.0:0.0:0.8694	.	546	Q96Q15	SMG1_HUMAN	R	546	ENSP00000402515:H546R;ENSP00000374118:H546R	ENSP00000374118:H546R	H	-	2	0	SMG1	18795200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.089000	0.57685	2.073000	0.62155	0.402000	0.26972	CAT		0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		8	140	0	0	0	1	0	8	140				
ERCC2	2068	broad.mit.edu	37	19	45854888	45854888	+	Nonstop_Mutation	SNP	C	C	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45854888C>G	ENST00000391945.4	-	23	2359	c.2282G>C	c.(2281-2283)tGa>tCa	p.*761S	ERCC2_ENST00000391944.3_Nonstop_Mutation_p.*683S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	0					7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCGCCCCACTCAGAGCTGCTG	0.592			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(2281-2283)tGa>tCa	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							133.0	142.0	139.0					19																	45854888		2203	4300	6503	SO:0001578	stop_lost	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45854888C>G		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.2282G>C	19.37:g.45854888C>G						ERCC2_ENST00000391944.3_Nonstop_Mutation_p.*683S	p.*761S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	23	2359	-		Ovarian(192;0.0728)|all_neural(266;0.112)	0					Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Nonstop_Mutation	SNP	ENST00000391945.4	37	c.2282G>C	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	9.890	1.203909	0.22121	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	.	.	.	4.29	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3154	0.21188	0.0:0.8316:0.0:0.1684	.	.	.	.	S	711;737;761;683	.	.	X	-	2	2	ERCC2	50546728	1.000000	0.71417	0.948000	0.38648	0.024000	0.10985	3.262000	0.51538	0.932000	0.37266	0.561000	0.74099	TGA		0.592	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		97	1081	0	0	0	1	0	97	1081				
ANKK1	255239	broad.mit.edu	37	11	113270777	113270777	+	Missense_Mutation	SNP	G	G	A	rs146480879	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:113270777G>A	ENST00000303941.3	+	8	2180	c.2086G>A	c.(2086-2088)Gcc>Acc	p.A696T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	696							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CTGGACACCCGCCCACCTGGC	0.632													G|||	4	0.000798722	0.0008	0.0	5008	,	,		19817	0.0		0.003	False		,,,				2504	0.0					ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(2086-2088)Gcc>Acc		ankyrin repeat and kinase domain containing 1		G	THR/ALA	0,4070		0,0,2035	33.0	39.0	37.0		2086	2.4	0.7	11	dbSNP_134	37	10,8324		0,10,4157	yes	missense	ANKK1	NM_178510.1	58	0,10,6192	AA,AG,GG		0.12,0.0,0.0806	probably-damaging	696/766	113270777	10,12394	2035	4167	6202	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113270777G>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2086G>A	11.37:g.113270777G>A	ENSP00000306678:p.Ala696Thr						p.A696T	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	2180	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	696						Missense_Mutation	SNP	ENST00000303941.3	37	c.2086G>A	CCDS44734.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	10.43	1.348728	0.24426	0.0	0.0012	ENSG00000170209	ENST00000303941	T	0.64260	-0.09	4.42	2.4	0.29515	Ankyrin repeat-containing domain (3);	0.490884	0.17282	N	0.179972	T	0.58308	0.2113	L	0.49571	1.57	0.31013	N	0.719045	D	0.63880	0.993	P	0.51415	0.669	T	0.62058	-0.6934	10	0.66056	D	0.02	-16.1702	2.7615	0.05307	0.0937:0.1657:0.4433:0.2974	.	696	Q8NFD2	ANKK1_HUMAN	T	696	ENSP00000306678:A696T	ENSP00000306678:A696T	A	+	1	0	ANKK1	112775987	0.725000	0.28048	0.689000	0.30133	0.028000	0.11728	1.016000	0.29976	1.022000	0.39626	0.514000	0.50259	GCC		0.632	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		7	177	0	0	0	1	0	7	177				
TAS2R31	259290	broad.mit.edu	37	12	11183165	11183165	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:11183165T>C	ENST00000390675.2	-	1	841	c.770A>G	c.(769-771)aAc>aGc	p.N257S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	257					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						GACAGGTTTGTTTTCCAGACT	0.383																																						ENST00000390675.2																			0				kidney(1)|lung(6)	7						c.(769-771)aAc>aGc		taste receptor, type 2, member 31							203.0	213.0	210.0					12																	11183165		2164	4282	6446	SO:0001583	missense	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183165T>C	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.770A>G	12.37:g.11183165T>C	ENSP00000375093:p.Asn257Ser					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.N257S	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN			1	841	-			257					P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	c.770A>G	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	5.489	0.275150	0.10403	.	.	ENSG00000256436	ENST00000390675	T	0.00760	5.73	2.45	-0.013	0.13986	.	.	.	.	.	T	0.00906	0.0030	L	0.42487	1.325	0.09310	N	1	B	0.26672	0.156	B	0.33799	0.17	T	0.46148	-0.9212	9	0.26408	T	0.33	.	4.233	0.10613	0.0:0.3766:0.0:0.6234	.	257	P59538	T2R31_HUMAN	S	257	ENSP00000375093:N257S	ENSP00000375093:N257S	N	-	2	0	TAS2R31	11074432	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	0.106000	0.15354	0.198000	0.20407	0.163000	0.16589	AAC		0.383	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		21	1431	0	0	0	1	0	21	1431				
KLHL1	57626	broad.mit.edu	37	13	70281775	70281775	+	Silent	SNP	T	T	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:70281775T>C	ENST00000377844.4	-	10	2928	c.2169A>G	c.(2167-2169)caA>caG	p.Q723Q	KLHL1_ENST00000545028.1_Silent_p.Q530Q	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	723					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACTCATTAGTTTGTGGGTCAT	0.413																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(2167-2169)caA>caG		kelch-like family member 1							163.0	131.0	142.0					13																	70281775		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70281775T>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.2169A>G	13.37:g.70281775T>C						KLHL1_ENST00000545028.1_Silent_p.Q530Q	p.Q723Q	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	10	2928	-		Breast(118;0.000162)	723					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.2169A>G	CCDS9445.1																																																																																				0.413	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		8	355	0	0	0	1	0	8	355				
PPP1R9A	55607	broad.mit.edu	37	7	94740662	94740662	+	Missense_Mutation	SNP	G	G	A	rs201822608		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:94740662G>A	ENST00000433881.1	+	3	2019	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R496H|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R496H|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.R496H|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R496H|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R496H			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	496	Interacts with protein phosphatase 1. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTGAAAAACGTGTAGAAAAG	0.383										HNSCC(28;0.073)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15037	0.0		0.001	False		,,,				2504	0.0					ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(1486-1488)cGt>cAt		protein phosphatase 1, regulatory subunit 9A							69.0	71.0	70.0					7																	94740662		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94740662G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1487G>A	7.37:g.94740662G>A	ENSP00000398870:p.Arg496His	HNSCC(28;0.073)				PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R496H|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.R496H|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R496H|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R496H|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R496H	p.R496H	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1703	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		496			Interacts with protein phosphatase 1 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.1487G>A	CCDS34683.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.83	3.899587	0.72754	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	4.98	4.98	0.66077	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	0.981;0.987;0.989;1.0;1.0	P;P;P;D;D	0.79784	0.59;0.767;0.819;0.988;0.993	T	0.72268	-0.4343	10	0.87932	D	0	.	18.8349	0.92157	0.0:0.0:1.0:0.0	.	496;496;496;496;496	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	H	496	ENSP00000405514:R496H;ENSP00000344524:R496H;ENSP00000411342:R496H;ENSP00000398870:R496H;ENSP00000289495:R496H;ENSP00000402893:R496H	ENSP00000289495:R496H	R	+	2	0	PPP1R9A	94578598	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	9.587000	0.98229	2.755000	0.94549	0.650000	0.86243	CGT		0.383	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		16	294	0	0	0	1	0	16	294				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	219	0	0	0	1	0	6	219				
ST8SIA6	338596	broad.mit.edu	37	10	17363212	17363212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:17363212C>T	ENST00000377602.4	-	8	936	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	288					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTAGACTCTTCGAGCGTGTAG	0.443																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(862-864)Gaa>Aaa		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							146.0	153.0	151.0					10																	17363212		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363212C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.862G>A	10.37:g.17363212C>T	ENSP00000366827:p.Glu288Lys						p.E288K	NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN			8	936	-			288					B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.862G>A	CCDS31158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.010|0.010	-1.793994|-1.793994	0.00617|0.00617	.|.	.|.	ENSG00000148488|ENSG00000148488	ENST00000377610;ENST00000377602|ENST00000440449	T|.	0.28454|.	1.61|.	5.18|5.18	1.42|1.42	0.22433|0.22433	.|.	0.613081|.	0.19292|.	N|.	0.117871|.	T|T	0.09423|0.09423	0.0232|0.0232	N|N	0.01874|0.01874	-0.695|-0.695	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.04013|.	0.001|.	T|T	0.32025|0.32025	-0.9922|-0.9922	10|5	0.02654|.	T|.	1|.	-14.1943|-14.1943	5.6706|5.6706	0.17721|0.17721	0.0:0.2239:0.2137:0.5624|0.0:0.2239:0.2137:0.5624	.|.	288|.	P61647|.	SIA8F_HUMAN|.	K|Q	118;288|108	ENSP00000366827:E288K|.	ENSP00000366827:E288K|.	E|R	-|-	1|2	0|0	ST8SIA6|ST8SIA6	17403218|17403218	0.060000|0.060000	0.20803|0.20803	0.011000|0.011000	0.14972|0.14972	0.107000|0.107000	0.19398|0.19398	1.102000|1.102000	0.31050|0.31050	0.533000|0.533000	0.28675|0.28675	-0.312000|-0.312000	0.09012|0.09012	GAA|CGA		0.443	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		28	1139	0	0	0	1	0	28	1139				
CACNA1E	777	broad.mit.edu	37	1	181732595	181732595	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:181732595C>T	ENST00000367573.2	+	34	4743	c.4743C>T	c.(4741-4743)gcC>gcT	p.A1581A	CACNA1E_ENST00000367570.1_Silent_p.A1581A|CACNA1E_ENST00000526775.1_Silent_p.A1562A|CACNA1E_ENST00000357570.5_Silent_p.A1532A|CACNA1E_ENST00000367567.4_Silent_p.A1188A|CACNA1E_ENST00000358338.5_Silent_p.A1513A|CACNA1E_ENST00000360108.3_Silent_p.A1562A	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1581					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						TCCGAGCTGCCCGCCTCATAA	0.463																																						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.(4684-4686)gcC>gcT		calcium channel, voltage-dependent, R type, alpha 1E subunit							84.0	82.0	83.0					1																	181732595		1861	4100	5961	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181732595C>T	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.4743C>T	1.37:g.181732595C>T						CACNA1E_ENST00000367573.2_Silent_p.A1581A|CACNA1E_ENST00000367570.1_Silent_p.A1581A|CACNA1E_ENST00000367567.4_Silent_p.A1188A|CACNA1E_ENST00000357570.5_Silent_p.A1532A|CACNA1E_ENST00000360108.3_Silent_p.A1562A|CACNA1E_ENST00000358338.5_Silent_p.A1513A	p.A1562A	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			33	4851	+			1581					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.4686C>T	CCDS55664.1																																																																																				0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		8	279	0	0	0	1	0	8	279				
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																						ENST00000409454.1																			0																																																			0							g.chr15:45848224G>T																													15.37:g.45848224G>T														0	1219	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			27	128	1	0	1.03484e-13	1	1.12107e-13	27	128				
CSNK2A1	1457	broad.mit.edu	37	20	470440	470440	+	Missense_Mutation	SNP	T	T	C	rs61730060	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:470440T>C	ENST00000217244.3	-	10	1082	c.707A>G	c.(706-708)cAt>cGt	p.H236R	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.H100R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.H236R(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATAATTGTCATGTCCATGGAA	0.373																																						ENST00000217244.3																			2	Substitution - Missense(2)	p.H236R(2)	lung(1)|central_nervous_system(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(706-708)cAt>cGt		casein kinase 2, alpha 1 polypeptide							94.0	83.0	87.0					20																	470440		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:470440T>C	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.707A>G	20.37:g.470440T>C	ENSP00000217244:p.His236Arg					CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR	p.H236R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		10	1082	-		Breast(17;0.231)	236			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.707A>G	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.018985	0.54576	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.096383	0.85682	D	0.000000	T	0.35566	0.0936	N	0.01640	-0.785	0.80722	D	1	B	0.16166	0.016	B	0.13407	0.009	T	0.27088	-1.0084	10	0.40728	T	0.16	-5.9305	14.2644	0.66107	0.0:0.0:0.0:1.0	.	236	P68400	CSK21_HUMAN	R	236;236;236;236;100	ENSP00000383086:H236R;ENSP00000339247:H236R;ENSP00000217244:H236R;ENSP00000383076:H100R	ENSP00000217244:H236R	H	-	2	0	CSNK2A1	418440	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.791000	0.85805	2.213000	0.71641	0.477000	0.44152	CAT		0.373	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		8	319	0	0	0	1	0	8	319				
NKX2-2	4821	broad.mit.edu	37	20	21492879	21492879	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:21492879C>T	ENST00000377142.4	-	2	860	c.504G>A	c.(502-504)acG>acA	p.T168T	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	168					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCTGCGTGGGCGTGAGGCGGA	0.677																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(502-504)acG>acA		NK2 homeobox 2							42.0	43.0	42.0					20																	21492879		2202	4300	6502	SO:0001819	synonymous_variant	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492879C>T	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.504G>A	20.37:g.21492879C>T						NKX2-2-AS1_ENST00000549659.1_RNA	p.T168T	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	860	-			168						Silent	SNP	ENST00000377142.4	37	c.504G>A	CCDS13145.1																																																																																				0.677	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			22	166	0	0	0	1	0	22	166				
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTTGTCAACATTCGTGACAGA	0.413																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698264T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698264T>C								NR_003264.2						0	1608	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.413	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			6	344	0	0	0	1	0	6	344				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S157S(5)	endometrium(3)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(469-471)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414373G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.471C>T	9.37:g.20414373G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR	p.S157S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	757	-			157			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.471C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	339	0	0	0	1	0	8	339				
PIK3CA	5290	broad.mit.edu	37	3	178948163	178948163	+	Splice_Site	SNP	A	A	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:178948163A>G	ENST00000263967.3	+	20	3092	c.2935A>G	c.(2935-2937)Agg>Ggg	p.R979G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	979	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGAATTTGAGAGGTGAGCTCG	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.e20+1		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							65.0	63.0	64.0					3																	178948163		1803	4073	5876	SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178948163A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2936+1A>G	3.37:g.178948163A>G		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R979_splice	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		20	3092	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		979			PI3K/PI4K.		Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	c.2936_splice	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.606615	0.66558	.	.	ENSG00000121879	ENST00000263967	T	0.75938	-0.98	4.99	4.99	0.66335	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.73590	0.3606	L	0.55213	1.73	0.80722	D	1	P	0.45827	0.867	P	0.45071	0.468	T	0.75297	-0.3367	10	0.44086	T	0.13	-11.9936	14.9656	0.71188	1.0:0.0:0.0:0.0	.	979	P42336	PK3CA_HUMAN	G	979	ENSP00000263967:R979G	ENSP00000263967:R979G	R	+	1	2	PIK3CA	180430857	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.842000	0.75379	1.990000	0.58119	0.477000	0.44152	AGG		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	63	426	0	0	0	1	0	63	426				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		12	242	0	0	0	1	0	12	242				
EXOSC8	11340	broad.mit.edu	37	13	37576427	37576427	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:37576427A>G	ENST00000389704.3	+	2	300	c.35A>G	c.(34-36)gAg>gGg	p.E12G	ALG5_ENST00000239891.3_5'Flank|ALG5_ENST00000443765.1_5'Flank|ALG5_ENST00000496689.1_5'Flank|ALG5_ENST00000413537.2_5'Flank|EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	12					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)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		GAACCTCTGGAGTATTACAGG	0.323																																						ENST00000389704.3																			0				biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7						c.(34-36)gAg>gGg		exosome component 8							116.0	112.0	113.0					13																	37576427		2203	4300	6503	SO:0001583	missense	11340				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding	g.chr13:37576427A>G	AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"""CBP-interacting protein 3"", ""Opa interacting protein 2"""	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.35A>G	13.37:g.37576427A>G	ENSP00000374354:p.Glu12Gly					EXOSC8_ENST00000489088.1_3'UTR	p.E12G	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)	2	300	+		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	12					O43480|Q5TBA5	Missense_Mutation	SNP	ENST00000389704.3	37	c.35A>G	CCDS31958.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943943	0.73672	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.45276	0.9	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	M	0.75615	2.305	0.80722	D	1	B;P	0.35139	0.219;0.486	B;B	0.28465	0.072;0.09	T	0.48468	-0.9033	10	0.52906	T	0.07	-14.8925	15.5547	0.76184	1.0:0.0:0.0:0.0	.	12;12	Q5JXM0;Q96B26	.;EXOS8_HUMAN	G	12	ENSP00000374354:E12G	ENSP00000369137:E12G	E	+	2	0	EXOSC8	36474427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.767000	0.74975	2.088000	0.63022	0.528000	0.53228	GAG		0.323	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503		14	486	0	0	0	1	0	14	486				
COX7B2	170712	broad.mit.edu	37	4	46736995	46736995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:46736995C>T	ENST00000396533.1	-	4	465	c.215G>A	c.(214-216)aGa>aAa	p.R72K	COX7B2_ENST00000355591.3_Missense_Mutation_p.R72K|COX7B2_ENST00000302930.5_Missense_Mutation_p.R72K|COX7B2_ENST00000543208.1_Missense_Mutation_p.R71K			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	72						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.R71I(1)		large_intestine(1)|lung(4)	5						TGGGGTAACTCTGCCAACAGG	0.428																																						ENST00000396533.1																			1	Substitution - Missense(1)	p.R71I(1)	lung(1)	large_intestine(1)|lung(4)	5						c.(214-216)aGa>aAa		cytochrome c oxidase subunit VIIb2							112.0	100.0	104.0					4																	46736995		2203	4300	6503	SO:0001583	missense	170712					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr4:46736995C>T	AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.215G>A	4.37:g.46736995C>T	ENSP00000379784:p.Arg72Lys					COX7B2_ENST00000543208.1_Missense_Mutation_p.R71K|COX7B2_ENST00000355591.3_Missense_Mutation_p.R72K|COX7B2_ENST00000302930.5_Missense_Mutation_p.R72K	p.R72K			Q8TF08	CX7B2_HUMAN			4	465	-			72					Q32Q40	Missense_Mutation	SNP	ENST00000396533.1	37	c.215G>A	CCDS3472.2	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574133	0.65765	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.57	4.57	0.56435	Cytochrome C oxidase, subunit VIIB, domain (2);	0.057494	0.64402	D	0.000001	T	0.56031	0.1958	.	.	.	0.28946	N	0.890717	D	0.76494	0.999	D	0.85130	0.997	T	0.46555	-0.9183	9	0.24483	T	0.36	-8.9049	13.1628	0.59554	0.0:1.0:0.0:0.0	.	72	Q8TF08	CX7B2_HUMAN	K	72;72;72;71	ENSP00000347799:R72K;ENSP00000379784:R72K;ENSP00000305964:R72K;ENSP00000437439:R71K	ENSP00000305964:R72K	R	-	2	0	COX7B2	46431752	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.933000	0.28897	2.830000	0.97506	0.585000	0.79938	AGA		0.428	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313899.1	NM_130902		9	394	0	0	0	1	0	9	394				
PPP1R32	220004	broad.mit.edu	37	11	61252241	61252241	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:61252241C>T	ENST00000338608.2	+	5	588	c.463C>T	c.(463-465)Cac>Tac	p.H155Y	RP11-286N22.8_ENST00000544880.1_3'UTR|PPP1R32_ENST00000432063.2_Missense_Mutation_p.H155Y	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	155				H -> R (in Ref. 1; BAB71432). {ECO:0000305}.			phosphatase binding (GO:0019902)										GCCTCTGCTCCACCAGCAGCA	0.677																																						ENST00000338608.2																			0											c.(463-465)Cac>Tac		protein phosphatase 1, regulatory subunit 32							25.0	25.0	25.0					11																	61252241		2202	4299	6501	SO:0001583	missense	220004							g.chr11:61252241C>T	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.463C>T	11.37:g.61252241C>T	ENSP00000344140:p.His155Tyr					RP11-286N22.8_ENST00000544880.1_3'UTR|PPP1R32_ENST00000432063.2_Missense_Mutation_p.H155Y	p.H155Y	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN			5	588	+			155	H -> R (in Ref. 1; BAB71432).				Q4G0P4|Q96M77	Missense_Mutation	SNP	ENST00000338608.2	37	c.463C>T	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306254	0.60305	.	.	ENSG00000162148	ENST00000432063;ENST00000338608	T;T	0.50001	0.76;1.31	5.19	3.28	0.37604	.	0.595091	0.16876	N	0.195935	T	0.49064	0.1535	M	0.76574	2.34	0.80722	D	1	P;P	0.36909	0.573;0.573	B;B	0.40901	0.343;0.343	T	0.38112	-0.9676	9	.	.	.	-15.4916	7.997	0.30273	0.0:0.7515:0.161:0.0876	.	155;155	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	Y	155	ENSP00000391560:H155Y;ENSP00000344140:H155Y	.	H	+	1	0	C11orf66	61008817	1.000000	0.71417	0.998000	0.56505	0.673000	0.39480	1.218000	0.32467	0.555000	0.29079	0.462000	0.41574	CAC		0.677	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		4	62	0	0	0	1	0	4	62				
BRINP1	1620	broad.mit.edu	37	9	121929366	121929366	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:121929366C>A	ENST00000265922.3	-	8	2743	c.2282G>T	c.(2281-2283)tGc>tTc	p.C761F	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	761					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.C761Y(1)									CCCGGGTTAGCAGAGTTTGGC	0.453																																						ENST00000265922.3																			1	Substitution - Missense(1)	p.C761Y(1)	endometrium(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2281-2283)tGc>tTc									212.0	205.0	208.0					9																	121929366		2203	4300	6503	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929366C>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2282G>T	9.37:g.121929366C>A	ENSP00000265922:p.Cys761Phe					DBC1_ENST00000482797.1_Intron	p.C761F	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2743	-			761					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.2282G>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836126	0.71373	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.25414	1.8	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	L	0.41492	1.28	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.22730	-1.0208	10	0.87932	D	0	.	19.5154	0.95162	0.0:1.0:0.0:0.0	.	761	O60477	DBC1_HUMAN	F	761	ENSP00000265922:C761F	ENSP00000265922:C761F	C	-	2	0	DBC1	120969187	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.786000	0.85741	2.937000	0.99478	0.650000	0.86243	TGC		0.453	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		10	833	1	0	0.000442599	1	0.000453329	10	833				
GDE1	51573	broad.mit.edu	37	16	19528371	19528371	+	Silent	SNP	A	A	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:19528371A>T	ENST00000353258.3	-	2	582	c.402T>A	c.(400-402)atT>atA	p.I134I		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	134	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						TCAGCTTCCTAATTTGTTCAA	0.408																																						ENST00000353258.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						c.(400-402)atT>atA		glycerophosphodiester phosphodiesterase 1							154.0	137.0	143.0					16																	19528371		2197	4300	6497	SO:0001819	synonymous_variant	51573				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding	g.chr16:19528371A>T		CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"""membrane interacting protein of RGS16"""	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.402T>A	16.37:g.19528371A>T							p.I134I	NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN			2	582	-			134			GDPD.		O43334|Q6PKF7|Q7KYR4	Silent	SNP	ENST00000353258.3	37	c.402T>A	CCDS10578.1																																																																																				0.408	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		69	577	0	0	0	1	0	69	577				
AQP8	343	broad.mit.edu	37	16	25232853	25232853	+	Silent	SNP	G	G	A	rs199899879		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:25232853G>A	ENST00000219660.5	+	3	461	c.336G>A	c.(334-336)ccG>ccA	p.P112P	AQP8_ENST00000566125.1_Silent_p.P106P	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	112					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TGCTCCTCCCGTACTGGGTCT	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16833	0.001		0.0	False		,,,				2504	0.0					ENST00000219660.5																			0				NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(334-336)ccG>ccA		aquaporin 8							96.0	86.0	89.0					16																	25232853		2197	4300	6497	SO:0001819	synonymous_variant	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25232853G>A	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.336G>A	16.37:g.25232853G>A						AQP8_ENST00000566125.1_Silent_p.P106P	p.P112P	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	3	461	+			112					Q8IUU3|Q9UIA4	Silent	SNP	ENST00000219660.5	37	c.336G>A	CCDS10626.1																																																																																				0.627	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		7	457	0	0	0	1	0	7	457				
ACOT11	26027	broad.mit.edu	37	1	55062956	55062956	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:55062956G>A	ENST00000371316.3	+	7	714	c.632G>A	c.(631-633)cGc>cAc	p.R211H	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.R211H	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	211	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.R211H(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GACTGTAGCCGCATGGTGCCG	0.627																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000371316.3																			2	Substitution - Missense(2)	p.R211H(2)	lung(2)	NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(631-633)cGc>cAc		acyl-CoA thioesterase 11							66.0	54.0	58.0					1																	55062956		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55062956G>A	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.632G>A	1.37:g.55062956G>A	ENSP00000360366:p.Arg211His					ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.R211H	p.R211H	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN			7	714	+			211			Acyl coenzyme A hydrolase 2.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.632G>A	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273318	0.23221	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.10573	2.88;2.86	4.93	-7.81	0.01210	.	1.969230	0.02401	N	0.080685	T	0.06872	0.0175	L	0.34521	1.04	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.003	T	0.27606	-1.0069	10	0.44086	T	0.13	-24.5333	2.1472	0.03790	0.4433:0.0829:0.2566:0.2172	.	211;211	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	H	211	ENSP00000340260:R211H;ENSP00000360366:R211H	ENSP00000340260:R211H	R	+	2	0	ACOT11	54835544	0.000000	0.05858	0.016000	0.15963	0.557000	0.35523	-2.496000	0.00970	-1.568000	0.01670	-1.808000	0.00615	CGC		0.627	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		6	173	0	0	0	1	0	6	173				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		9	302	0	0	0	1	0	9	302				
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:31237922G>C	ENST00000407793.2	+	5	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000251758.5_Missense_Mutation_p.R167T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	167	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R167T(11)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612										Multiple Myeloma(12;0.14)																												ENST00000251758.5																			11	Substitution - Missense(11)	p.R167T(11)	lung(6)|kidney(2)|large_intestine(1)|prostate(1)|central_nervous_system(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(499-501)aGa>aCa		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							18.0	20.0	19.0					12																	31237922		2203	4299	6502	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31237922G>C	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.500G>C	12.37:g.31237922G>C	ENSP00000384703:p.Arg167Thr	Multiple Myeloma(12;0.14)				DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000407793.2_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000545668.1_Missense_Mutation_p.R167T	p.R167T			Q96FC9	DDX11_HUMAN			5	751	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		167			Glu-rich.|Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.500G>C	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.810541	0.00600	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.59224	4.17;4.17;4.17;4.17;0.28;4.17;4.17;4.17	3.87	0.233	0.15386	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.241085	0.41938	N	0.000785	T	0.18635	0.0447	N	0.00841	-1.15	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.25779	-1.0122	10	0.12430	T	0.62	.	5.1988	0.15252	0.0:0.4995:0.1963:0.3042	.	167;167;167;167	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	T	167;167;167;141;138;141;167;167	ENSP00000443426:R167T;ENSP00000384703:R167T;ENSP00000251758:R167T;ENSP00000228264:R141T;ENSP00000407646:R138T;ENSP00000406457:R141T;ENSP00000440402:R167T;ENSP00000309965:R167T	ENSP00000228264:R141T	R	+	2	0	DDX11	31129189	0.211000	0.23529	0.000000	0.03702	0.000000	0.00434	0.680000	0.25306	-0.264000	0.09365	-1.993000	0.00448	AGA		0.612	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		5	75	0	0	0	1	0	5	75				
AKAP11	11215	broad.mit.edu	37	13	42873717	42873717	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:42873717A>T	ENST00000025301.2	+	8	1010	c.835A>T	c.(835-837)Agg>Tgg	p.R279W		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	279	Ser-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTGGACCCAAAGGAGTTTCTA	0.393																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(835-837)Agg>Tgg		A kinase (PRKA) anchor protein 11							84.0	82.0	82.0					13																	42873717		2203	4299	6502	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42873717A>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.835A>T	13.37:g.42873717A>T	ENSP00000025301:p.Arg279Trp						p.R279W	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	1010	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	279			Ser-rich.		O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.835A>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399892	0.62177	.	.	ENSG00000023516	ENST00000025301	T	0.54675	0.56	5.43	5.43	0.79202	.	0.257696	0.42548	D	0.000687	T	0.49575	0.1565	L	0.51422	1.61	0.29627	N	0.845705	B	0.24426	0.103	B	0.21917	0.037	T	0.53229	-0.8468	10	0.54805	T	0.06	.	15.787	0.78315	1.0:0.0:0.0:0.0	.	279	Q9UKA4	AKA11_HUMAN	W	279	ENSP00000025301:R279W	ENSP00000025301:R279W	R	+	1	2	AKAP11	41771717	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.323000	0.59221	2.197000	0.70478	0.533000	0.62120	AGG		0.393	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		16	671	0	0	0	1	0	16	671				
TTN	7273	broad.mit.edu	37	2	179641506	179641506	+	Silent	SNP	A	A	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:179641506A>G	ENST00000591111.1	-	28	5309	c.5085T>C	c.(5083-5085)taT>taC	p.Y1695Y	TTN_ENST00000589042.1_Silent_p.Y1695Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.Y1695Y|TTN_ENST00000342175.6_Silent_p.Y1649Y|TTN_ENST00000342992.6_Silent_p.Y1695Y|TTN_ENST00000359218.5_Silent_p.Y1649Y|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Silent_p.Y1649Y|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12526					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)			TCTCTTTGTCATAGAGATCAC	0.473																																						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.(5083-5085)taT>taC		titin							90.0	84.0	86.0					2																	179641506		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641506A>G	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.5085T>C	2.37:g.179641506A>G						TTN_ENST00000342992.6_Silent_p.Y1695Y|TTN_ENST00000460472.2_Silent_p.Y1649Y|TTN_ENST00000591111.1_Silent_p.Y1695Y|TTN_ENST00000342175.6_Silent_p.Y1649Y|TTN_ENST00000359218.5_Silent_p.Y1649Y|TTN_ENST00000360870.5_Silent_p.Y1695Y	p.Y1695Y	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)		28	5309	-			1449					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.5085T>C																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		54	330	0	0	0	1	0	54	330				
CDK12	51755	broad.mit.edu	37	17	37687333	37687333	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:37687333C>G	ENST00000447079.4	+	14	4270	c.4237C>G	c.(4237-4239)Cac>Gac	p.H1413D	CDK12_ENST00000430627.2_Missense_Mutation_p.H1404D	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1413					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTTAGCGTTACACCCGGTGGT	0.582			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(4237-4239)Cac>Gac		cyclin-dependent kinase 12							70.0	74.0	73.0					17																	37687333		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687333C>G	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4237C>G	17.37:g.37687333C>G	ENSP00000398880:p.His1413Asp	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.H1404D	p.H1413D	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	4270	+			1413					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.4237C>G	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136315	0.37728	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69435	-0.37;-0.4	5.34	5.34	0.76211	.	0.124406	0.36665	N	0.002461	T	0.50922	0.1644	N	0.08118	0	0.42641	D	0.99341	P;P	0.40476	0.596;0.718	B;B	0.38803	0.146;0.282	T	0.61143	-0.7122	10	0.62326	D	0.03	-4.3884	18.8418	0.92188	0.0:1.0:0.0:0.0	.	1413;1404	Q9NYV4;Q9NYV4-2	CDK12_HUMAN;.	D	1404;1413	ENSP00000407720:H1404D;ENSP00000398880:H1413D	ENSP00000407720:H1404D	H	+	1	0	CDK12	34940859	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.938000	0.48987	2.775000	0.95449	0.650000	0.86243	CAC		0.582	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		8	348	0	0	0	1	0	8	348				
HOOK1	51361	broad.mit.edu	37	1	60330911	60330911	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:60330911C>A	ENST00000371208.3	+	18	1995	c.1738C>A	c.(1738-1740)Caa>Aaa	p.Q580K	HOOK1_ENST00000465876.1_Intron|HOOK1_ENST00000395561.2_Missense_Mutation_p.Q538K	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	580					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGATATAAATCAAAATGGTAG	0.363																																						ENST00000371208.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(1738-1740)Caa>Aaa		hook microtubule-tethering protein 1							55.0	57.0	56.0					1																	60330911		2203	4300	6503	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60330911C>A	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1738C>A	1.37:g.60330911C>A	ENSP00000360252:p.Gln580Lys					HOOK1_ENST00000465876.1_Intron|HOOK1_ENST00000395561.2_Missense_Mutation_p.Q538K	p.Q580K	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN			18	1995	+	all_cancers(7;0.000129)		580					A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.1738C>A	CCDS612.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965749	0.34659	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.17213	2.29;2.29	6.03	6.03	0.97812	.	0.156942	0.56097	D	0.000022	T	0.19005	0.0456	L	0.45581	1.43	0.58432	D	0.999999	B	0.11235	0.004	B	0.16722	0.016	T	0.13202	-1.0518	10	0.10377	T	0.69	.	20.6398	0.99548	0.0:1.0:0.0:0.0	.	580	Q9UJC3	HOOK1_HUMAN	K	580;538	ENSP00000360252:Q580K;ENSP00000378928:Q538K	ENSP00000360252:Q580K	Q	+	1	0	HOOK1	60103499	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.497000	0.73674	2.881000	0.98747	0.650000	0.86243	CAA		0.363	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		9	237	1	0	0.000274275	1	0.000282637	9	237				
OR11H1	81061	broad.mit.edu	37	22	16449649	16449649	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr22:16449649C>T	ENST00000252835.4	-	1	156	c.156G>A	c.(154-156)ctG>ctA	p.L52L		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	52						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(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CTGTTATAGTCAGTGCATATG	0.418																																						ENST00000252835.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11						c.(154-156)ctG>ctA		olfactory receptor, family 11, subfamily H, member 1							103.0	103.0	103.0					22																	16449649		1501	3161	4662	SO:0001819	synonymous_variant	81061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr22:16449649C>T	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.156G>A	22.37:g.16449649C>T							p.L52L	NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)	1	156	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)	52					Q6IEX0|Q96R32	Silent	SNP	ENST00000252835.4	37	c.156G>A	CCDS33594.1																																																																																				0.418	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239		42	999	0	0	0	1	0	42	999				
MUC16	94025	broad.mit.edu	37	19	9074001	9074001	+	Missense_Mutation	SNP	G	G	A	rs377647571		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:9074001G>A	ENST00000397910.4	-	3	13648	c.13445C>T	c.(13444-13446)gCg>gTg	p.A4482V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4484	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						AACTGAAGTCGCAGAAACAGG	0.463																																						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.(13444-13446)gCg>gTg		mucin 16, cell surface associated		G	VAL/ALA	2,4038		0,2,2018	137.0	129.0	132.0		13445	-4.4	0.0	19		132	1,8347		0,1,4173	no	missense	MUC16	NM_024690.2	64	0,3,6191	AA,AG,GG		0.012,0.0495,0.0242	benign	4482/14508	9074001	3,12385	2020	4174	6194	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074001G>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.13445C>T	19.37:g.9074001G>A	ENSP00000381008:p.Ala4482Val						p.A4482V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	13648	-			4484			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13445C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	1.841	-0.467526	0.04476	4.95E-4	1.2E-4	ENSG00000181143	ENST00000397910	T	0.15603	2.41	2.22	-4.44	0.03557	.	.	.	.	.	T	0.03564	0.0102	N	0.00368	-1.59	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.44667	-0.9313	8	0.87932	D	0	.	5.0828	0.14666	0.4495:0.0:0.4123:0.1382	.	4482	B5ME49	.	V	4482	ENSP00000381008:A4482V	ENSP00000381008:A4482V	A	-	2	0	MUC16	8935001	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.514000	0.00956	-2.395000	0.00582	-2.024000	0.00429	GCG		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		34	464	0	0	0	1	0	34	464				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		16	165	0	0	0	1	0	16	165				
CROCCP2	84809	broad.mit.edu	37	1	16945433	16945433	+	lincRNA	SNP	T	T	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:16945433T>C	ENST00000412962.1	-	0	2086				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCGCTCCTGCTCCGCAAGCCT	0.637																																						ENST00000412962.1																			0																																																			0							g.chr1:16945433T>C	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945433T>C														0	2086	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.637	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		16	636	0	0	0	1	0	16	636				
LRFN5	145581	broad.mit.edu	37	14	42356419	42356419	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr14:42356419G>A	ENST00000298119.4	+	3	1780	c.591G>A	c.(589-591)atG>atA	p.M197I	LRFN5_ENST00000554171.1_Missense_Mutation_p.M197I|LRFN5_ENST00000554120.1_Missense_Mutation_p.M197I	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	197						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCACAAGATGACTCGGTTAG	0.443										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(589-591)atG>atA		leucine rich repeat and fibronectin type III domain containing 5							72.0	64.0	67.0					14																	42356419		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356419G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.591G>A	14.37:g.42356419G>A	ENSP00000298119:p.Met197Ile	HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Missense_Mutation_p.M197I|LRFN5_ENST00000298119.4_Missense_Mutation_p.M197I	p.M197I			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	3023	+			197					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.591G>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809997	0.31961	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.49139	0.79;0.79;0.79	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000002	T	0.23289	0.0563	N	0.01771	-0.73	0.42698	D	0.993608	B;B	0.16396	0.001;0.017	B;B	0.19666	0.009;0.026	T	0.11916	-1.0568	10	0.66056	D	0.02	.	10.4503	0.44518	0.0879:0.0:0.9121:0.0	.	197;197	G3V364;Q96NI6	.;LRFN5_HUMAN	I	197	ENSP00000298119:M197I;ENSP00000451897:M197I;ENSP00000451067:M197I	ENSP00000298119:M197I	M	+	3	0	LRFN5	41426169	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.040000	0.41203	2.595000	0.87683	0.650000	0.86243	ATG		0.443	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		41	257	0	0	0	1	0	41	257				
SEC31B	25956	broad.mit.edu	37	10	102262171	102262171	+	Missense_Mutation	SNP	C	C	T	rs376511713		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:102262171C>T	ENST00000370345.3	-	11	1347	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	SEC31B_ENST00000494350.1_5'Flank|SEC31B_ENST00000451524.1_Missense_Mutation_p.R417H	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	417					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)		GAAGACTAGGCGGGGGCAAGG	0.527																																						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.(1249-1251)cGc>cAc		SEC31 homolog B (S. cerevisiae)			HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	62.0	63.0	62.0		1250	-1.0	0.2	10		62	0,8600		0,0,4300	no	missense	SEC31B	NM_015490.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	417/1180	102262171	1,13005	2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102262171C>T	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.1250G>A	10.37:g.102262171C>T	ENSP00000359370:p.Arg417His					SEC31B_ENST00000451524.1_Missense_Mutation_p.R417H	p.R417H	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	11	1347	-		Colorectal(252;0.117)	417					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.1250G>A	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	c	7.417	0.635990	0.14386	2.27E-4	0.0	ENSG00000075826	ENST00000370345;ENST00000451524	T;T	0.59083	0.66;0.29	5.38	-1.01	0.10169	.	0.242628	0.49305	N	0.000156	T	0.39627	0.1085	L	0.31926	0.97	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.16778	-1.0391	10	0.14656	T	0.56	-0.3817	11.439	0.50086	0.0:0.5274:0.0:0.4726	.	416;417	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	H	417	ENSP00000359370:R417H;ENSP00000391178:R417H	ENSP00000359370:R417H	R	-	2	0	SEC31B	102252161	0.334000	0.24739	0.219000	0.23793	0.509000	0.34042	-0.023000	0.12456	-0.190000	0.10465	-0.227000	0.12334	CGC		0.527	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		49	328	0	0	0	1	0	49	328				
LRRK1	79705	broad.mit.edu	37	15	101565029	101565029	+	Missense_Mutation	SNP	G	G	A	rs141102052	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:101565029G>A	ENST00000388948.3	+	16	2448	c.2089G>A	c.(2089-2091)Gtc>Atc	p.V697I	LRRK1_ENST00000284395.5_Missense_Mutation_p.V694I	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAGTTCAACGTCTGGGACAT	0.562													G|||	10	0.00199681	0.0	0.0029	5008	,	,		17969	0.001		0.003	False		,,,				2504	0.0041					ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2080-2082)Gtc>Atc		leucine-rich repeat kinase 1		G	ILE/VAL	6,4030		0,6,2012	111.0	118.0	116.0		2089	5.1	1.0	15	dbSNP_134	116	40,8340		0,40,4150	yes	missense	LRRK1	NM_024652.3	29	0,46,6162	AA,AG,GG		0.4773,0.1487,0.3705	probably-damaging	697/2016	101565029	46,12370	2018	4190	6208	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101565029G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2089G>A	15.37:g.101565029G>A	ENSP00000373600:p.Val697Ile					LRRK1_ENST00000388948.3_Missense_Mutation_p.V697I	p.V694I			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		17	2480	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		697			Roc.			Missense_Mutation	SNP	ENST00000388948.3	37	c.2080G>A	CCDS42086.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	35	5.595911	0.96602	0.001487	0.004773	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.78003	-1.14;-1.14	5.11	5.11	0.69529	ROC GTPase (1);Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	T	0.78641	0.4315	L	0.47716	1.5	0.58432	D	0.999992	P	0.52577	0.954	P	0.48524	0.58	T	0.79332	-0.1847	10	0.44086	T	0.13	.	18.5426	0.91035	0.0:0.0:1.0:0.0	.	697	Q38SD2	LRRK1_HUMAN	I	697;694	ENSP00000373600:V697I;ENSP00000284395:V694I	ENSP00000284395:V694I	V	+	1	0	LRRK1	99382552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.649000	0.98487	2.360000	0.80028	0.650000	0.86243	GTC		0.562	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		10	750	0	0	0	1	0	10	750				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			13	174	0	0	0	1	0	13	174				
NUTM2F	54754	broad.mit.edu	37	9	97084541	97084541	+	Missense_Mutation	SNP	G	G	A	rs549762125		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:97084541G>A	ENST00000253262.4	-	3	804	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	NUTM2F_ENST00000341207.4_Missense_Mutation_p.R262W|NUTM2F_ENST00000335456.7_Missense_Mutation_p.R262W	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	262																	TGCCATTCCCGCATGGCCTGC	0.632													.|||	1	0.000199681	0.0	0.0	5008	,	,		18707	0.0		0.0	False		,,,				2504	0.001					ENST00000335456.7																			0											c.(784-786)Cgg>Tgg		NUT family member 2F							63.0	75.0	71.0					9																	97084541		1425	2647	4072	SO:0001583	missense	54754							g.chr9:97084541G>A		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.784C>T	9.37:g.97084541G>A	ENSP00000253262:p.Arg262Trp					NUTM2F_ENST00000341207.4_Missense_Mutation_p.R262W|NUTM2F_ENST00000253262.4_Missense_Mutation_p.R262W	p.R262W							3	804	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	c.784C>T	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	.	14.33	2.502628	0.44455	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207	T;T;T	0.25749	1.78;1.78;1.78	1.2	1.2	0.21068	Nuclear Testis  protein, N-terminal (1);	0.442996	0.19174	N	0.120859	T	0.36413	0.0966	L	0.47716	1.5	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.03394	-1.1041	10	0.87932	D	0	.	5.8356	0.18605	0.0:0.0:1.0:0.0	.	262	A1L443	FA22F_HUMAN	W	262	ENSP00000335067:R262W;ENSP00000253262:R262W;ENSP00000343865:R262W	ENSP00000253262:R262W	R	-	1	2	FAM22F	96124362	0.923000	0.31300	0.054000	0.19295	0.300000	0.27592	2.409000	0.44583	0.992000	0.38840	0.456000	0.33151	CGG		0.632	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		7	462	0	0	0	1	0	7	462				
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A	rs199733185		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - Missense(1)	p.V233I(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(697-699)Gtc>Atc		signal-regulatory protein alpha							67.0	60.0	62.0					20																	1902301		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902301G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.697G>A	20.37:g.1902301G>A	ENSP00000351621:p.Val233Ile					SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I	p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	849	+			233			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.697G>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382458	0.24944	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02863	4.13;4.13;4.13	4.86	-7.7	0.01259	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.216010	0.01765	N	0.030825	T	0.02727	0.0082	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14805	0.002;0.011;0.008	B;B;B	0.12156	0.002;0.007;0.006	T	0.30765	-0.9967	10	0.20519	T	0.43	.	13.8982	0.63785	0.7446:0.0:0.2554:0.0	.	213;233;233	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	I	233	ENSP00000382941:V233I;ENSP00000348307:V233I;ENSP00000351621:V233I	ENSP00000348307:V233I	V	+	1	0	SIRPA	1850301	0.000000	0.05858	0.000000	0.03702	0.766000	0.43426	-2.041000	0.01415	-1.573000	0.01659	-0.355000	0.07637	GTC		0.617	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		6	257	0	0	0	1	0	6	257				
TTN	7273	broad.mit.edu	37	2	179464316	179464316	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:179464316C>A	ENST00000591111.1	-	239	51613	c.51389G>T	c.(51388-51390)gGa>gTa	p.G17130V	TTN_ENST00000589042.1_Missense_Mutation_p.G18771V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9898V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16203V|TTN_ENST00000359218.5_Missense_Mutation_p.G9831V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9706V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17130	Ig-like 102.				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)			TGATGCTGTTCCCAGATTATT	0.388																																						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.(56311-56313)gGa>gTa		titin							260.0	256.0	257.0					2																	179464316		1918	4130	6048	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179464316C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51389G>T	2.37:g.179464316C>A	ENSP00000465570:p.Gly17130Val					TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16203V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9706V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17130V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9898V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9831V|TTN-AS1_ENST00000589234.1_RNA	p.G18771V	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)		289	56536	-			17130			Fibronectin type-III 36.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.56312G>T		.	.	.	.	.	.	.	.	.	.	C	14.85	2.657649	0.47467	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91219	0.7233	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93592	0.6922	9	0.87932	D	0	.	19.5067	0.95121	0.0:1.0:0.0:0.0	.	9706;9831;9898;17130	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	16203;9706;9898;9831;9704	ENSP00000343764:G16203V;ENSP00000434586:G9706V;ENSP00000340554:G9898V;ENSP00000352154:G9831V	ENSP00000340554:G9898V	G	-	2	0	TTN	179172561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.760000	0.85248	2.609000	0.88269	0.650000	0.86243	GGA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		74	1375	1	0	7.34454e-26	1	8.1126e-26	74	1375				
ZNF671	79891	broad.mit.edu	37	19	58232832	58232832	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:58232832C>T	ENST00000317398.6	-	4	717	c.622G>A	c.(622-624)Gac>Aac	p.D208N	ZNF671_ENST00000335820.3_Missense_Mutation_p.D110N|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGTGCTGGTCAAAGTCTGTA	0.502																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(622-624)Gac>Aac		zinc finger protein 671							139.0	132.0	135.0					19																	58232832		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232832C>T		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.622G>A	19.37:g.58232832C>T	ENSP00000321848:p.Asp208Asn					AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.D110N	p.D208N	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	717	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	208					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.622G>A	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.218275	0.39201	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.27402	1.67;1.67	2.45	-2.07	0.07276	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10895	0.0266	N	0.04297	-0.235	0.09310	N	1	B	0.17038	0.02	B	0.19391	0.025	T	0.37314	-0.9711	9	0.13108	T	0.6	.	4.9308	0.13916	0.0:0.5176:0.2982:0.1842	.	208	Q8TAW3	ZN671_HUMAN	N	208;110	ENSP00000321848:D208N;ENSP00000338670:D110N	ENSP00000321848:D208N	D	-	1	0	ZNF671	62924644	0.000000	0.05858	0.006000	0.13384	0.365000	0.29674	-2.416000	0.01035	-0.084000	0.12595	0.467000	0.42956	GAC		0.502	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		31	540	0	0	0	1	0	31	540				
OBSCN	84033	broad.mit.edu	37	1	228494661	228494661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:228494661G>A	ENST00000422127.1	+	45	12030	c.11986G>A	c.(11986-11988)Gca>Aca	p.A3996T	OBSCN_ENST00000570156.2_Missense_Mutation_p.A4953T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1630T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3996T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1115T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3996	Ig-like 41.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGAGGCACCGCACACTTATG	0.662																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(14857-14859)Gca>Aca		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							24.0	29.0	27.0					1																	228494661		2142	4229	6371	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228494661G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11986G>A	1.37:g.228494661G>A	ENSP00000409493:p.Ala3996Thr					OBSCN_ENST00000366707.4_Missense_Mutation_p.A1630T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A3996T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3996T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1115T	p.A4953T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			56	14931	+		Prostate(94;0.0405)	3996			Ig-like 48.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.14857G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234904	0.58886	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.75	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.080615	0.51477	D	0.000084	T	0.23806	0.0576	M	0.76433	2.335	0.09310	N	1	D;P	0.89917	1.0;0.945	D;P	0.91635	0.999;0.465	T	0.02450	-1.1157	10	0.35671	T	0.21	.	15.1731	0.72891	0.069:0.0:0.931:0.0	.	3996;3996	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	3996;3996;1630;1115	ENSP00000284548:A3996T;ENSP00000409493:A3996T;ENSP00000355668:A1630T;ENSP00000355670:A1115T	ENSP00000284548:A3996T	A	+	1	0	OBSCN	226561284	0.393000	0.25237	0.150000	0.22450	0.002000	0.02628	3.437000	0.52863	2.722000	0.93159	0.462000	0.41574	GCA		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	44	0	0	0	1	0	3	44				
PCDHA2	56146	broad.mit.edu	37	5	140176361	140176361	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr5:140176361C>T	ENST00000526136.1	+	1	1812	c.1812C>T	c.(1810-1812)aaC>aaT	p.N604N	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.N604N|PCDHA2_ENST00000378132.1_Silent_p.N604N|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	604	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N604N(2)		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)			CAGGCTACAACGCGTGGCTTT	0.657																																						ENST00000526136.1																			2	Substitution - coding silent(2)	p.N604N(2)	large_intestine(2)	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.(1810-1812)aaC>aaT									154.0	139.0	144.0					5																	140176361		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140176361C>T	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.1812C>T	5.37:g.140176361C>T						PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.N604N|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.N604N	p.N604N	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1812	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1812C>T	CCDS54914.1																																																																																				0.657	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		27	381	0	0	0	1	0	27	381				
MUC6	4588	broad.mit.edu	37	11	1031906	1031906	+	Missense_Mutation	SNP	C	C	T	rs547156930		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:1031906C>T	ENST00000421673.2	-	3	313	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	88	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCTGGGCCTCGCCGCAGCTG	0.622																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(262-264)cGa>cAa		mucin 6, oligomeric mucus/gel-forming							68.0	75.0	73.0					11																	1031906		2140	4227	6367	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1031906C>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.263G>A	11.37:g.1031906C>T	ENSP00000406861:p.Arg88Gln						p.R88Q	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	313	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	88			VWFD 1.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.263G>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941759	0.73557	.	.	ENSG00000184956	ENST00000421673;ENST00000525923	T;T	0.59638	0.25;0.25	4.03	4.03	0.46877	von Willebrand factor, type D domain (3);	0.000000	0.28016	U	0.016921	T	0.75443	0.3850	M	0.76002	2.32	0.34055	D	0.656646	D	0.89917	1.0	D	0.91635	0.999	D	0.84681	0.0717	10	0.72032	D	0.01	.	16.1414	0.81528	0.0:1.0:0.0:0.0	.	88	Q6W4X9	MUC6_HUMAN	Q	88;112	ENSP00000406861:R88Q;ENSP00000433790:R112Q	ENSP00000406861:R88Q	R	-	2	0	MUC6	1021906	0.828000	0.29307	0.981000	0.43875	0.586000	0.36452	3.799000	0.55529	1.968000	0.57251	0.462000	0.41574	CGA		0.622	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		11	191	0	0	0	1	0	11	191				
OR2W5	441932	broad.mit.edu	37	1	247655201	247655201	+	RNA	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:247655201C>T	ENST00000522351.1	+	0	832							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCATCATCTACGTGTACCTGA	0.532																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															133.0	116.0	122.0					1																	247655201		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655201C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655201C>T										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	832	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.532	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		25	598	0	0	0	1	0	25	598				
SLC37A1	54020	broad.mit.edu	37	21	43999848	43999848	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr21:43999848C>T	ENST00000352133.2	+	19	2506	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	SLC37A1_ENST00000398341.3_Silent_p.F508F			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	508					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TGGTGCAGTTCCTGATCCGCC	0.647																																						ENST00000352133.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						c.(1522-1524)ttC>ttT		solute carrier family 37 (glucose-6-phosphate transporter), member 1							78.0	61.0	67.0					21																	43999848		2203	4300	6503	SO:0001819	synonymous_variant	54020				carbohydrate transport|transmembrane transport	integral to membrane		g.chr21:43999848C>T	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.1524C>T	21.37:g.43999848C>T						SLC37A1_ENST00000398341.3_Silent_p.F508F	p.F508F			P57057	GLPT_HUMAN			19	2506	+			508					D3DSJ7|Q9HAQ1	Silent	SNP	ENST00000352133.2	37	c.1524C>T	CCDS13689.1																																																																																				0.647	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			17	143	0	0	0	1	0	17	143				
ADAMTSL1	92949	broad.mit.edu	37	9	18777015	18777015	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:18777015G>A	ENST00000380548.4	+	19	3127	c.2788G>A	c.(2788-2790)Ggc>Agc	p.G930S		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	930	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGCCCCCTTCGGCTATCTCAA	0.667																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(2788-2790)Ggc>Agc		ADAMTS-like 1							42.0	50.0	48.0					9																	18777015		2049	4205	6254	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777015G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2788G>A	9.37:g.18777015G>A	ENSP00000369921:p.Gly930Ser						p.G930S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3127	+			930			Ig-like C2-type 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.2788G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	g	17.01	3.279858	0.59758	.	.	ENSG00000178031	ENST00000380548	T	0.73469	-0.75	5.53	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.719030	0.08080	U	1.000000	D	0.85630	0.5741	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.64877	0.93	T	0.79303	-0.1859	10	0.62326	D	0.03	.	14.6057	0.68478	0.0701:0.0:0.9299:0.0	.	930	Q8N6G6	ATL1_HUMAN	S	930	ENSP00000369921:G930S	ENSP00000369921:G930S	G	+	1	0	ADAMTSL1	18767015	1.000000	0.71417	0.881000	0.34555	0.031000	0.12232	9.551000	0.98112	1.350000	0.45770	-0.355000	0.07637	GGC		0.667	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			43	274	0	0	0	1	0	43	274				
TRAPPC9	83696	broad.mit.edu	37	8	141285777	141285777	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:141285777G>A	ENST00000438773.2	-	15	2391	c.2258C>T	c.(2257-2259)tCg>tTg	p.S753L	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.S851L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S744L	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	753					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GAGAACTTTCGAGGTGACCTC	0.363																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(2551-2553)tCg>tTg		trafficking protein particle complex 9							160.0	141.0	147.0					8																	141285777		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141285777G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2258C>T	8.37:g.141285777G>A	ENSP00000405060:p.Ser753Leu					TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S744L|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S753L	p.S851L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			15	2566	-			753					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.2552C>T	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661990	0.14645	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	4.44	4.44	0.53790	.	0.065979	0.64402	D	0.000008	T	0.40222	0.1108	N	0.20530	0.585	0.49389	D	0.99978	B;B;B;B	0.18610	0.029;0.016;0.004;0.008	B;B;B;B	0.14578	0.011;0.005;0.001;0.006	T	0.31696	-0.9934	9	0.06494	T	0.89	.	17.2919	0.87159	0.0:0.0:1.0:0.0	.	851;753;744;851	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.;TPPC9_HUMAN;.;.	L	851;744;753	.	ENSP00000373978:S744L	S	-	2	0	TRAPPC9	141354959	1.000000	0.71417	0.935000	0.37517	0.889000	0.51656	9.035000	0.93752	2.303000	0.77524	0.655000	0.94253	TCG		0.363	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		7	451	0	0	0	1	0	7	451				
RP11-337C18.8	0	broad.mit.edu	37	1	146649771	146649771	+	RNA	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:146649771G>A	ENST00000607149.1	+	0	350				RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000440377.2_RNA|RP11-337C18.9_ENST00000606152.1_RNA																							TGCCTCCGACGTGCTAGGACT	0.711																																						ENST00000607149.1																			0																																																			0							g.chr1:146649771G>A																													1.37:g.146649771G>A														0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.711	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			28	174	0	0	0	1	0	28	174				
DDX31	64794	broad.mit.edu	37	9	135537950	135537950	+	Missense_Mutation	SNP	C	C	T	rs367667543		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:135537950C>T	ENST00000372159.3	-	2	674	c.523G>A	c.(523-525)Gca>Aca	p.A175T	DDX31_ENST00000372153.1_Missense_Mutation_p.A175T|DDX31_ENST00000438527.3_Missense_Mutation_p.A46T|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.A175T|DDX31_ENST00000544003.1_Missense_Mutation_p.A79T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	175						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ATTTTTTGTGCGTTCCCCTTA	0.428																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(523-525)Gca>Aca		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31		C	THR/ALA,THR/ALA	0,4406		0,0,2203	174.0	171.0	172.0		523,523	-7.7	0.0	9		172	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DDX31	NM_138620.1,NM_022779.7	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	175/586,175/852	135537950	1,13005	2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135537950C>T	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.523G>A	9.37:g.135537950C>T	ENSP00000361232:p.Ala175Thr					DDX31_ENST00000544003.1_Missense_Mutation_p.A79T|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000372153.1_Missense_Mutation_p.A175T|DDX31_ENST00000310532.2_Missense_Mutation_p.A175T|DDX31_ENST00000438527.3_Missense_Mutation_p.A46T	p.A175T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	2	674	-			175					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.523G>A	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	c	3.149	-0.174630	0.06421	0.0	1.16E-4	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532;ENST00000544003	T;T;T;T;T	0.47869	4.37;3.92;4.34;3.5;0.83	5.6	-7.73	0.01245	.	1.174590	0.05861	N	0.622977	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B;B;B	0.23891	0.093;0.003;0.002	B;B;B	0.14578	0.011;0.003;0.0	T	0.18871	-1.0323	10	0.09843	T	0.71	0.329	0.3822	0.00396	0.2246:0.2316:0.2547:0.2891	.	175;175;175	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	T	175;175;175;46;175;79	ENSP00000361232:A175T;ENSP00000361226:A175T;ENSP00000387730:A46T;ENSP00000310539:A175T;ENSP00000442425:A79T	ENSP00000310539:A175T	A	-	1	0	DDX31	134527771	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.965000	0.03829	-0.997000	0.03450	-0.285000	0.09966	GCA		0.428	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		85	658	0	0	0	1	0	85	658				
LMBRD1	55788	broad.mit.edu	37	6	70428941	70428941	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:70428941C>T	ENST00000370577.3	-	8	898	c.669G>A	c.(667-669)ctG>ctA	p.L223L	LMBRD1_ENST00000370570.1_Silent_p.L150L	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	223					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TGCCTTTTATCAGATTTAAAG	0.313																																						ENST00000370577.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						c.(667-669)ctG>ctA		LMBR1 domain containing 1							115.0	99.0	104.0					6																	70428941		2203	4300	6503	SO:0001819	synonymous_variant	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70428941C>T	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.669G>A	6.37:g.70428941C>T						LMBRD1_ENST00000370570.1_Silent_p.L150L	p.L223L	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN			8	898	-			223					A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Silent	SNP	ENST00000370577.3	37	c.669G>A	CCDS4969.1																																																																																				0.313	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		7	188	0	0	0	1	0	7	188				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		8	177	0	0	0	1	0	8	177				
NOTCH3	4854	broad.mit.edu	37	19	15271507	15271507	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:15271507G>A	ENST00000263388.2	-	33	7007	c.6932C>T	c.(6931-6933)cCg>cTg	p.P2311L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2311					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGTAACTTCCGGCTGGGGCCC	0.627																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(6931-6933)cCg>cTg		notch 3							50.0	59.0	56.0					19																	15271507		2202	4300	6502	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15271507G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6932C>T	19.37:g.15271507G>A	ENSP00000263388:p.Pro2311Leu						p.P2311L	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	7007	-			2311					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.6932C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390466	0.25118	.	.	ENSG00000074181	ENST00000263388	T	0.81247	-1.47	3.99	3.99	0.46301	.	.	.	.	.	T	0.59390	0.2190	N	0.08118	0	0.21105	N	0.999789	P	0.34587	0.458	B	0.19391	0.025	T	0.55685	-0.8102	9	0.87932	D	0	.	9.199	0.37246	0.1056:0.0:0.8944:0.0	.	2311	Q9UM47	NOTC3_HUMAN	L	2311	ENSP00000263388:P2311L	ENSP00000263388:P2311L	P	-	2	0	NOTCH3	15132507	0.858000	0.29795	0.387000	0.26183	0.565000	0.35776	2.105000	0.41825	1.948000	0.56530	0.591000	0.81541	CCG		0.627	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		48	370	0	0	0	1	0	48	370				
RYR1	6261	broad.mit.edu	37	19	38976522	38976522	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:38976522G>A	ENST00000359596.3	+	34	5227	c.5227G>A	c.(5227-5229)Gcc>Acc	p.A1743T	RYR1_ENST00000360985.3_Missense_Mutation_p.A1743T|RYR1_ENST00000355481.4_Missense_Mutation_p.A1743T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1743	6 X approximate repeats.				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)			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)	TGAGACCCGCGCCATCACGCT	0.622																																						ENST00000355481.4																			0				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.(5227-5229)Gcc>Acc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						64.0	62.0	63.0					19																	38976522		2203	4300	6503	SO:0001583	missense	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.chr19:38976522G>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.5227G>A	19.37:g.38976522G>A	ENSP00000352608:p.Ala1743Thr					RYR1_ENST00000360985.3_Missense_Mutation_p.A1743T|RYR1_ENST00000359596.3_Missense_Mutation_p.A1743T	p.A1743T	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)		34	5358	+	all_cancers(60;7.91e-06)		1743			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5227G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297479	0.40694	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72615	-0.67;-0.67;-0.67	3.77	1.49	0.22878	.	0.137822	0.45126	U	0.000388	T	0.41581	0.1165	N	0.14661	0.345	0.29121	N	0.880273	B;B	0.33940	0.433;0.274	B;B	0.26614	0.071;0.056	T	0.23368	-1.0190	10	0.19590	T	0.45	.	4.2144	0.10528	0.5402:0.0:0.4598:0.0	.	1743;1743	P21817-2;P21817	.;RYR1_HUMAN	T	1743	ENSP00000352608:A1743T;ENSP00000347667:A1743T;ENSP00000354254:A1743T	ENSP00000347667:A1743T	A	+	1	0	RYR1	43668362	0.108000	0.22018	1.000000	0.80357	0.613000	0.37349	0.876000	0.28092	0.796000	0.33947	-0.225000	0.12378	GCC		0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			50	365	0	0	0	1	0	50	365				
CELSR3	1951	broad.mit.edu	37	3	48677669	48677669	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:48677669G>A	ENST00000164024.4	-	34	9629	c.9349C>T	c.(9349-9351)Cgg>Tgg	p.R3117W	CELSR3_ENST00000544264.1_Missense_Mutation_p.R3122W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3117					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCTGCCCCGATCTTTGGGC	0.682																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(9364-9366)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 3							35.0	39.0	37.0					3																	48677669		2202	4294	6496	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48677669G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9349C>T	3.37:g.48677669G>A	ENSP00000164024:p.Arg3117Trp					CELSR3_ENST00000164024.4_Missense_Mutation_p.R3117W	p.R3122W			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	35	9644	-			3117					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9364C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207667	0.58343	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.72167	-0.63;-0.62	4.72	2.78	0.32641	.	.	.	.	.	T	0.71065	0.3296	N	0.19112	0.55	0.29159	N	0.877919	D;D;D	0.89917	0.999;0.999;1.0	P;P;P	0.62885	0.9;0.798;0.908	T	0.67534	-0.5646	9	0.72032	D	0.01	.	12.7798	0.57471	0.0:0.0:0.6916:0.3084	.	3122;3117;3215	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	W	3117;3122	ENSP00000164024:R3117W;ENSP00000445694:R3122W	ENSP00000164024:R3117W	R	-	1	2	CELSR3	48652673	0.936000	0.31750	0.981000	0.43875	0.483000	0.33249	1.494000	0.35616	0.333000	0.23563	0.484000	0.47621	CGG		0.682	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		37	227	0	0	0	1	0	37	227				
MVB12B	89853	broad.mit.edu	37	9	129148842	129148842	+	Splice_Site	SNP	G	G	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:129148842G>C	ENST00000361171.3	+	4	395	c.314G>C	c.(313-315)aGt>aCt	p.S105T	MVB12B_ENST00000436593.3_Splice_Site_p.S90T|MVB12B_ENST00000535766.1_Splice_Site_p.S98T|MVB12B_ENST00000545391.1_Splice_Site_p.S105T	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	105	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										CTTCCCAAGAGTCATCTGGGG	0.448																																						ENST00000361171.3																			0											c.e4-1		multivesicular body subunit 12B							93.0	75.0	81.0					9																	129148842		2203	4300	6503	SO:0001630	splice_region_variant	89853							g.chr9:129148842G>C	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.313-1G>C	9.37:g.129148842G>C						MVB12B_ENST00000535766.1_Splice_Site_p.S98_splice|MVB12B_ENST00000436593.3_Splice_Site_p.S90_splice|MVB12B_ENST00000545391.1_Splice_Site_p.S105_splice	p.S105_splice	NM_033446.2	NP_258257.1					4	395	+								Q8N6S7	Splice_Site	SNP	ENST00000361171.3	37	c.312_splice	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446526	0.63178	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.29	5.29	0.74685	MABP domain (1);	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	M	0.68317	2.08	0.58432	D	0.999999	D;P;P	0.64830	0.994;0.955;0.955	D;P;P	0.64506	0.926;0.675;0.675	T	0.54139	-0.8338	10	0.16420	T	0.52	-3.1465	18.9439	0.92613	0.0:0.0:1.0:0.0	.	98;90;105	B7Z4X0;B7Z1P9;Q9H7P6	.;.;F125B_HUMAN	T	105;105;90;90;98	ENSP00000354772:S105T;ENSP00000441988:S105T;ENSP00000384751:S90T;ENSP00000401379:S90T;ENSP00000442846:S98T	ENSP00000354772:S105T	S	+	2	0	FAM125B	128188663	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.149000	0.71795	2.474000	0.83562	0.650000	0.86243	AGT		0.448	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525	Missense_Mutation	4	152	0	0	0	1	0	4	152				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			7	331	1	0	8.12818e-05	1	8.42738e-05	7	331				
ABCC11	85320	broad.mit.edu	37	16	48209224	48209224	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:48209224G>A	ENST00000394747.1	-	25	3992	c.3643C>T	c.(3643-3645)Cgg>Tgg	p.R1215W	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1215W|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1215W|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1215W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1215	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGCTTGGACCGCAAGTCCTCC	0.622																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3643-3645)Cgg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							87.0	68.0	75.0					16																	48209224		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48209224G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3643C>T	16.37:g.48209224G>A	ENSP00000378230:p.Arg1215Trp					ABCC11_ENST00000356608.2_Missense_Mutation_p.R1215W|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1215W|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1215W|ABCC11_ENST00000565329.1_5'UTR	p.R1215W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			25	3992	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1215			ABC transporter 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3643C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998707	0.74818	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.99	2.72	0.32119	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.977;1.0	D	0.94753	0.7929	10	0.87932	D	0	-11.4901	4.5859	0.12282	0.1267:0.0:0.5176:0.3557	.	1215;1215	Q96J66-2;Q96J66	.;ABCCB_HUMAN	W	1215	ENSP00000311326:R1215W;ENSP00000349017:R1215W;ENSP00000378231:R1215W;ENSP00000378230:R1215W	ENSP00000311326:R1215W	R	-	1	2	ABCC11	46766725	1.000000	0.71417	0.310000	0.25168	0.990000	0.78478	2.368000	0.44222	0.342000	0.23796	0.591000	0.81541	CGG		0.622	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		5	188	0	0	0	1	0	5	188				
EPHA2	1969	broad.mit.edu	37	1	16455955	16455955	+	Silent	SNP	G	G	A	rs374544665		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:16455955G>A	ENST00000358432.5	-	16	2953	c.2799C>T	c.(2797-2799)atC>atT	p.I933I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	933	Negatively regulates interaction with ARHGEF16.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CCACCTTCTCGATGGCAGTGT	0.652																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2797-2799)atC>atT		EPH receptor A2	Dasatinib(DB01254)						91.0	80.0	84.0					1																	16455955		2203	4300	6503	SO:0001819	synonymous_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16455955G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2799C>T	1.37:g.16455955G>A							p.I933I	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	16	2953	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	933			Negatively regulates interaction with ARHGEF16.|SAM.		B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	37	c.2799C>T	CCDS169.1																																																																																				0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		13	392	0	0	0	1	0	13	392				
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	lincRNA	SNP	G	G	C	rs3118888		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1				long intergenic non-protein coding RNA 264																		GCTGAAACATGGAAGGTAAAA	0.483																																						ENST00000412114.1																			0																																																			0							g.chr10:26880338G>C			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880338G>C								NR_026793.1						0	573	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.483	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		11	213	0	0	0	1	0	11	213				
UQCRC2	7385	broad.mit.edu	37	16	21974207	21974207	+	Splice_Site	SNP	G	G	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:21974207G>T	ENST00000268379.4	+	6	1278		c.e6+1		UQCRC2_ENST00000561553.1_Splice_Site	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CCGCAGACTCGTAAGTACATT	0.363																																					Colon(123;450 1645 12841 25393 45623)	ENST00000268379.4																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.e6+1		ubiquinol-cytochrome c reductase core protein II							60.0	55.0	57.0					16																	21974207		2198	4300	6498	SO:0001630	splice_region_variant	7385				aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	g.chr16:21974207G>T	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.514+1G>T	16.37:g.21974207G>T						UQCRC2_ENST00000561553.1_Splice_Site		NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0264)	6	1278	+								B3KSN4|Q9BQ05	Splice_Site	SNP	ENST00000268379.4	37		CCDS10601.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208992	0.79240	.	.	ENSG00000140740	ENST00000268379	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9872	0.86342	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UQCRC2	21881708	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.328000	0.96403	2.411000	0.81874	0.563000	0.77884	.		0.363	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366	Intron	32	283	1	0	7.63505e-26	1	8.37872e-26	32	283				
KIF18B	146909	broad.mit.edu	37	17	43011628	43011628	+	Silent	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:43011628G>A	ENST00000593135.1	-	6	955	c.858C>T	c.(856-858)aaC>aaT	p.N286N	KIF18B_ENST00000438933.2_Silent_p.N286N|KIF18B_ENST00000587309.1_Silent_p.N286N|KIF18B_ENST00000590129.1_Silent_p.N295N|KIF18B_ENST00000339151.4_Silent_p.N286N	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	295	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CATTGAGGACGTTGATGAGCG	0.617																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(856-858)aaC>aaT		kinesin family member 18B							26.0	29.0	28.0					17																	43011628		2083	4245	6328	SO:0001819	synonymous_variant	146909							g.chr17:43011628G>A		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.858C>T	17.37:g.43011628G>A						KIF18B_ENST00000339151.4_Silent_p.N286N|KIF18B_ENST00000438933.2_Silent_p.N286N|KIF18B_ENST00000590129.1_Silent_p.N295N|KIF18B_ENST00000593135.1_Silent_p.N286N	p.N286N	NM_001264573.1	NP_001251503.1					6	881	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	ENST00000593135.1	37	c.858C>T	CCDS45709.2																																																																																				0.617	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		4	101	0	0	0	1	0	4	101				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		4	96	1	0	0.150653	1	0.150653	4	96				
CACNA1G	8913	broad.mit.edu	37	17	48650006	48650006	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:48650006C>T	ENST00000359106.5	+	6	838	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	CACNA1G_ENST00000510115.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R280W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R280W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R280W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R280W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R280W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R280W	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	280					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAACGGCATGCGGTCCTGCAG	0.647																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(838-840)Cgg>Tgg		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						20.0	23.0	22.0					17																	48650006		2082	4204	6286	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48650006C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.838C>T	17.37:g.48650006C>T	ENSP00000352011:p.Arg280Trp					CACNA1G_ENST00000354983.4_Missense_Mutation_p.R280W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R280W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R280W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R280W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R280W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R280W	p.R280W	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		6	1210	+	Breast(11;6.7e-17)		280					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.838C>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.154466	0.78114	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97066	-4.09;-4.09;-4.23;-4.04;-4.09;-4.08;-4.11;-4.18;-4.15;-4.16;-4.17;-4.04;-4.06;-4.12;-4.07;-4.03;-4.11;-4.07;-4.05;-4.11;-4.09;-4.06;-4.1;-4.05;-4.11;-4.11	5.36	4.38	0.52667	Ion transport (1);	0.332930	0.22063	N	0.065148	D	0.98021	0.9348	M	0.65498	2.005	0.54753	D	0.99998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.993;0.997;0.997;0.999;0.986;0.999;1.0;0.999;0.981;1.0;0.975;0.993;0.998;0.999;0.993;0.991;0.984;1.0;0.987;0.993;0.993;0.999;0.99;0.981;0.985	D	0.98545	1.0634	10	0.66056	D	0.02	.	15.6493	0.77078	0.138:0.862:0.0:0.0	.	280;280;280;280;280;280;280;280;280;280;280;280;280;280;280;280;280;280;280;280;280;280;280;280;280;280	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	W	280	ENSP00000353990:R280W;ENSP00000339302:R280W;ENSP00000392390:R280W;ENSP00000347078:R280W;ENSP00000409759:R280W;ENSP00000425522:R280W;ENSP00000426261:R280W;ENSP00000425451:R280W;ENSP00000422407:R280W;ENSP00000426814:R280W;ENSP00000427238:R280W;ENSP00000423112:R280W;ENSP00000420918:R280W;ENSP00000426172:R280W;ENSP00000423045:R280W;ENSP00000427173:R280W;ENSP00000426098:R280W;ENSP00000425698:R280W;ENSP00000426232:R280W;ENSP00000423317:R280W;ENSP00000350979:R280W;ENSP00000352011:R280W;ENSP00000414388:R280W;ENSP00000423155:R280W;ENSP00000422268:R280W;ENSP00000421518:R280W	ENSP00000339302:R280W	R	+	1	2	CACNA1G	46005005	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.314000	0.43743	1.259000	0.44117	0.505000	0.49811	CGG		0.647	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		3	51	0	0	0	1	0	3	51				
TCF7L1	83439	broad.mit.edu	37	2	85533483	85533483	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:85533483A>T	ENST00000282111.3	+	9	1419	c.1144A>T	c.(1144-1146)Aga>Tga	p.R382*		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	382					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						GATCCTTGGAAGAAAGGTAAG	0.567																																						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.(1144-1146)Aga>Tga		transcription factor 7-like 1 (T-cell specific, HMG-box)							124.0	111.0	115.0					2																	85533483		2203	4300	6503	SO:0001587	stop_gained	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85533483A>T	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.1144A>T	2.37:g.85533483A>T	ENSP00000282111:p.Arg382*						p.R382*	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			9	1419	+			382					Q53R97|Q6PD70|Q9NP00	Nonsense_Mutation	SNP	ENST00000282111.3	37	c.1144A>T	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.644390	0.87859	.	.	ENSG00000152284	ENST00000282111	.	.	.	5.17	2.67	0.31697	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7191	0.46030	0.5148:0.4852:0.0:0.0	.	.	.	.	X	382	.	ENSP00000282111:R382X	R	+	1	2	TCF7L1	85386994	0.082000	0.21442	0.979000	0.43373	0.034000	0.12701	0.726000	0.25984	0.257000	0.21650	-0.435000	0.05868	AGA		0.567	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		11	273	0	0	0	1	0	11	273				
TUBA1A	7846	broad.mit.edu	37	12	49580155	49580155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:49580155G>A	ENST00000295766.5	-	3	792	c.313C>T	c.(313-315)Cga>Tga	p.R105*	TUBA1A_ENST00000550767.1_Nonsense_Mutation_p.R70*|TUBA1A_ENST00000301071.7_Nonsense_Mutation_p.R105*|TUBA1A_ENST00000546918.1_Silent_p.P155P	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	105					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	TAGTGCCCTCGGGCATAGTTA	0.468																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000301071.7																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(313-315)Cga>Tga		tubulin, alpha 1a							135.0	139.0	138.0					12																	49580155		2203	4300	6503	SO:0001587	stop_gained	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49580155G>A	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.313C>T	12.37:g.49580155G>A	ENSP00000439020:p.Arg105*					TUBA1A_ENST00000550767.1_Nonsense_Mutation_p.R70*|TUBA1A_ENST00000546918.1_Silent_p.P155P|TUBA1A_ENST00000295766.5_Nonsense_Mutation_p.R105*	p.R105*	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN			3	657	-			105					A8K0B8|G3V1U9|P04687|P05209	Nonsense_Mutation	SNP	ENST00000295766.5	37	c.313C>T	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716103	0.89205	.	.	ENSG00000167552	ENST00000301071;ENST00000295766;ENST00000550767;ENST00000547939;ENST00000552924	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5677	0.61828	0.0:0.0:0.8438:0.1562	.	.	.	.	X	105;105;70;70;70	.	ENSP00000439020:R105X	R	-	1	2	TUBA1A	47866422	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.541000	0.82084	2.605000	0.88082	0.561000	0.74099	CGA		0.468	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		34	951	0	0	0	1	0	34	951				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		33	400	0	0	0	1	0	33	400				
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs59641550		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"""cancer/testis antigen family 4, member 2"""	300720	"""G antigen 2"""	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu						p.Q59E	NM_001127212.1	NP_001120684.1					3	258	+	Ovarian(276;0.236)								Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			3	31	0	0	0	1	0	3	31				
ADCY8	114	broad.mit.edu	37	8	132051844	132051844	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:132051844C>T	ENST00000286355.5	-	1	2828	c.736G>A	c.(736-738)Ggc>Agc	p.G246S	ADCY8_ENST00000377928.3_Missense_Mutation_p.G246S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	246					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|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)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTGACCACGCCGCTGTACTGC	0.637										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(736-738)Ggc>Agc		adenylate cyclase 8 (brain)							53.0	46.0	49.0					8																	132051844		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132051844C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.736G>A	8.37:g.132051844C>T	ENSP00000286355:p.Gly246Ser	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.G246S	p.G246S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	2828	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		246						Missense_Mutation	SNP	ENST00000286355.5	37	c.736G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052698	0.55218	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.39406	1.08;1.08	5.46	5.46	0.80206	.	0.131197	0.52532	D	0.000067	T	0.29652	0.0740	N	0.21545	0.675	0.41736	D	0.989582	B;B	0.19817	0.011;0.039	B;B	0.12156	0.004;0.007	T	0.12451	-1.0547	10	0.08179	T	0.78	.	18.2863	0.90115	0.0:1.0:0.0:0.0	.	246;246	E7EVL1;P40145	.;ADCY8_HUMAN	S	246	ENSP00000286355:G246S;ENSP00000367161:G246S	ENSP00000286355:G246S	G	-	1	0	ADCY8	132121026	1.000000	0.71417	0.889000	0.34880	0.907000	0.53573	5.747000	0.68689	2.580000	0.87095	0.455000	0.32223	GGC		0.637	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			13	216	0	0	0	1	0	13	216				
TBX5	6910	broad.mit.edu	37	12	114836449	114836449	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:114836449G>T	ENST00000310346.4	-	5	1105	c.439C>A	c.(439-441)Cat>Aat	p.H147N	TBX5_ENST00000349716.5_Missense_Mutation_p.H97N|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.H147N|TBX5_ENST00000526441.1_Missense_Mutation_p.H147N	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	147					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTCATCCAATGCGCCCCGGTG	0.612																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(439-441)Cat>Aat		T-box 5							76.0	60.0	65.0					12																	114836449		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114836449G>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.439C>A	12.37:g.114836449G>T	ENSP00000309913:p.His147Asn					TBX5_ENST00000349716.5_Missense_Mutation_p.H97N|TBX5_ENST00000526441.1_Missense_Mutation_p.H147N|TBX5_ENST00000405440.2_Missense_Mutation_p.H147N|TBX5_ENST00000552726.1_5'UTR	p.H147N	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	5	1105	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		147					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.439C>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143320	0.77888	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.35	4.35	0.52113	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92971	0.7763	M	0.77103	2.36	0.80722	D	1	D;D	0.65815	0.995;0.988	D;D	0.66979	0.948;0.947	D	0.93955	0.7235	10	0.72032	D	0.01	.	17.429	0.87534	0.0:0.0:1.0:0.0	.	147;147	Q99593-2;Q99593	.;TBX5_HUMAN	N	97;147;44;147;147	ENSP00000337723:H97N;ENSP00000309913:H147N;ENSP00000384152:H147N;ENSP00000433292:H147N	ENSP00000309913:H147N	H	-	1	0	TBX5	113320832	1.000000	0.71417	0.733000	0.30861	0.486000	0.33341	9.581000	0.98210	2.392000	0.81423	0.655000	0.94253	CAT		0.612	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		14	84	1	0	1.52009e-12	1	1.63628e-12	14	84				
BCKDHA	593	broad.mit.edu	37	19	41928085	41928085	+	Silent	SNP	C	C	T	rs151227241	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:41928085C>T	ENST00000269980.2	+	6	1031	c.663C>T	c.(661-663)taC>taT	p.Y221Y	BCKDHA_ENST00000457836.2_Silent_p.Y199Y|BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000595085.1_Silent_p.Y255Y|CTC-435M10.3_ENST00000540732.1_Silent_p.Y255Y	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	221					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGGCGGCGTACGCAGCCAAGC	0.637																																						ENST00000269980.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.(661-663)taC>taT		branched chain keto acid dehydrogenase E1, alpha polypeptide		C	,	0,4406		0,0,2203	36.0	33.0	34.0		663,663	-8.9	0.3	19	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	BCKDHA	NM_000709.3,NM_001164783.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	221/446,221/445	41928085	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41928085C>T	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.663C>T	19.37:g.41928085C>T						BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000595085.1_Silent_p.Y255Y|CTC-435M10.3_ENST00000540732.1_Silent_p.Y255Y|BCKDHA_ENST00000457836.2_Silent_p.Y199Y	p.Y221Y	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN			6	1031	+			221					B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.663C>T	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	1.529	-0.544937	0.04024	0.0	1.16E-4	ENSG00000248098	ENST00000541315	.	.	.	4.85	-8.87	0.00792	.	.	.	.	.	T	0.64461	0.2600	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72304	-0.4333	4	.	.	.	-19.325	17.7578	0.88455	0.0:0.1167:0.0:0.8833	.	.	.	.	M	188	.	.	T	+	2	0	BCKDHA	46619925	0.000000	0.05858	0.295000	0.24960	0.242000	0.25591	-2.269000	0.01168	-1.955000	0.01023	-1.202000	0.01658	ACG		0.637	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		7	180	0	0	0	1	0	7	180				
CXorf22	170063	broad.mit.edu	37	X	35974224	35974224	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:35974224G>A	ENST00000297866.5	+	8	1387	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	441								p.E441K(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAATCAATGCGAATTACTTCC	0.358																																						ENST00000297866.5																			2	Substitution - Missense(2)	p.E441K(2)	large_intestine(2)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1321-1323)Gaa>Aaa		chromosome X open reading frame 22							69.0	63.0	65.0					X																	35974224		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35974224G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1321G>A	X.37:g.35974224G>A	ENSP00000297866:p.Glu441Lys						p.E441K	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			8	1387	+			441					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1321G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.057199	0.00390	.	.	ENSG00000165164	ENST00000297866	T	0.53640	0.61	5.2	-5.28	0.02755	.	1.251890	0.05007	N	0.470268	T	0.16257	0.0391	N	0.03324	-0.35	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.21999	-1.0229	10	0.05959	T	0.93	-31.1423	3.3027	0.06989	0.2448:0.3051:0.3491:0.101	.	441	Q6ZTR5	CX022_HUMAN	K	441	ENSP00000297866:E441K	ENSP00000297866:E441K	E	+	1	0	CXorf22	35884145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.269000	0.08596	-0.677000	0.05231	-1.184000	0.01707	GAA		0.358	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		21	227	0	0	0	1	0	21	227				
GPR112	139378	broad.mit.edu	37	X	135432097	135432097	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:135432097G>C	ENST00000394143.1	+	6	6523	c.6232G>C	c.(6232-6234)Ggt>Cgt	p.G2078R	GPR112_ENST00000394141.1_Missense_Mutation_p.G1873R|GPR112_ENST00000370652.1_Missense_Mutation_p.G2078R|GPR112_ENST00000412101.1_Missense_Mutation_p.G1873R|GPR112_ENST00000287534.4_Missense_Mutation_p.G2015R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2078					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCTACACTGGGTGGTATCAC	0.468																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(6232-6234)Ggt>Cgt		G protein-coupled receptor 112							257.0	190.0	212.0					X																	135432097		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135432097G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6232G>C	X.37:g.135432097G>C	ENSP00000377699:p.Gly2078Arg					GPR112_ENST00000394141.1_Missense_Mutation_p.G1873R|GPR112_ENST00000287534.4_Missense_Mutation_p.G2015R|GPR112_ENST00000370652.1_Missense_Mutation_p.G2078R|GPR112_ENST00000412101.1_Missense_Mutation_p.G1873R	p.G2078R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	6523	+	Acute lymphoblastic leukemia(192;0.000127)		2078					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.6232G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	13.55	2.270870	0.40194	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.30981	1.55;1.55;1.51;1.54;1.51	4.04	2.04	0.26737	.	.	.	.	.	T	0.32346	0.0826	L	0.29908	0.895	0.09310	N	1	D;P;D	0.64830	0.982;0.926;0.994	P;P;P	0.59221	0.763;0.45;0.854	T	0.09907	-1.0653	9	0.59425	D	0.04	.	3.828	0.08863	0.1358:0.0:0.6268:0.2374	.	2015;1873;2078	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	R	2078;2078;1873;2015;1873	ENSP00000377699:G2078R;ENSP00000359686:G2078R;ENSP00000416526:G1873R;ENSP00000287534:G2015R;ENSP00000377697:G1873R	ENSP00000287534:G2015R	G	+	1	0	GPR112	135259763	0.000000	0.05858	0.001000	0.08648	0.135000	0.20990	-0.243000	0.08915	0.646000	0.30693	0.509000	0.49947	GGT		0.468	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			26	393	0	0	0	1	0	26	393				
ACTA1	58	broad.mit.edu	37	1	229568336	229568336	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:229568336C>T	ENST00000366684.3	-	3	523	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	141					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				AGGGACAGCACGGCCTGGATG	0.706																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(421-423)Gtg>Atg		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						52.0	53.0	53.0					1																	229568336		2203	4298	6501	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568336C>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.421G>A	1.37:g.229568336C>T	ENSP00000355645:p.Val141Met					ACTA1_ENST00000366683.2_Intron	p.V141M	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			3	523	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	141					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.421G>A	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444060	0.43429	.	.	ENSG00000143632	ENST00000366684;ENST00000366682;ENST00000342787	D	0.96136	-3.92	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000001	D	0.97838	0.9290	H	0.96111	3.77	0.80722	D	1	P	0.41475	0.751	P	0.49332	0.607	D	0.99867	1.1091	10	0.87932	D	0	.	17.4768	0.87661	0.0:1.0:0.0:0.0	.	141	P68133	ACTS_HUMAN	M	141;106;141	ENSP00000355645:V141M	ENSP00000344142:V141M	V	-	1	0	ACTA1	227634959	1.000000	0.71417	0.998000	0.56505	0.419000	0.31324	7.620000	0.83070	2.360000	0.80028	0.655000	0.94253	GTG		0.706	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		74	365	0	0	0	1	0	74	365				
RAB40B	10966	broad.mit.edu	37	17	80615798	80615798	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:80615798C>T	ENST00000571995.1	-	6	909	c.778G>A	c.(778-780)Gtc>Atc	p.V260I	RAB40B_ENST00000571880.1_5'Flank|RAB40B_ENST00000538809.2_3'UTR|RAB40B_ENST00000269347.6_Missense_Mutation_p.V81I	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	260					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGGGGGCGGACGAGCTTCACT	0.572																																						ENST00000571995.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10						c.(778-780)Gtc>Atc		RAB40B, member RAS oncogene family							81.0	94.0	90.0					17																	80615798		2203	4300	6503	SO:0001583	missense	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80615798C>T	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.778G>A	17.37:g.80615798C>T	ENSP00000461785:p.Val260Ile					RAB40B_ENST00000269347.6_Missense_Mutation_p.V81I|RAB40B_ENST00000538809.2_3'UTR	p.V260I	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	909	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	260					Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	37	c.778G>A	CCDS11816.1	.	.	.	.	.	.	.	.	.	.	C	2.276	-0.365935	0.05069	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	4.79	-9.58	0.00559	.	2.176640	0.02755	N	0.117936	T	0.05868	0.0153	N	0.00308	-1.67	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13683	-1.0500	9	0.02654	T	1	.	7.8491	0.29444	0.0702:0.0823:0.1585:0.6889	.	260	Q12829	RB40B_HUMAN	I	260;294	.	ENSP00000269347:V260I	V	-	1	0	RAB40B	78209087	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.991000	0.03728	-3.220000	0.00212	-0.244000	0.11960	GTC		0.572	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			14	744	0	0	0	1	0	14	744				
ANK3	288	broad.mit.edu	37	10	61847990	61847990	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:61847990C>G	ENST00000280772.2	-	29	3646	c.3455G>C	c.(3454-3456)gGa>gCa	p.G1152A	ANK3_ENST00000373827.2_Missense_Mutation_p.G1146A|ANK3_ENST00000355288.2_Missense_Mutation_p.G286A|ANK3_ENST00000503366.1_Missense_Mutation_p.G1153A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1152	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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						GCTCAGAATTCCACCTTCAGG	0.468																																						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.(3454-3456)gGa>gCa		ankyrin 3, node of Ranvier (ankyrin G)							133.0	133.0	133.0					10																	61847990		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61847990C>G	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.3455G>C	10.37:g.61847990C>G	ENSP00000280772:p.Gly1152Ala					ANK3_ENST00000373827.2_Missense_Mutation_p.G1146A|ANK3_ENST00000355288.2_Missense_Mutation_p.G286A|ANK3_ENST00000503366.1_Missense_Mutation_p.G1153A	p.G1152A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			29	3646	-			1152					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.3455G>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306184	0.95629	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	6.17	6.17	0.99709	.	0.000000	0.41500	D	0.000864	T	0.62756	0.2454	M	0.90542	3.125	0.80722	D	1	P;D;D;D;D;D;D	0.89917	0.947;1.0;1.0;1.0;0.999;1.0;0.999	P;D;D;D;D;D;D	0.91635	0.878;0.998;0.999;0.999;0.997;0.997;0.996	T	0.67317	-0.5701	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1153;286;685;1146;1152;387;286	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	A	1152;1146;286;286;1153;1132;387;787;787;285;685	ENSP00000280772:G1152A;ENSP00000362933:G1146A;ENSP00000347436:G286A;ENSP00000425236:G1153A	ENSP00000280772:G1152A	G	-	2	0	ANK3	61517996	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.466000	0.80914	2.941000	0.99782	0.655000	0.94253	GGA		0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		69	507	0	0	0	1	0	69	507				
TSC22D1	8848	broad.mit.edu	37	13	45147422	45147422	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:45147422C>A	ENST00000458659.2	-	1	3279	c.2789G>T	c.(2788-2790)gGt>gTt	p.G930V	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'UTR	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	930					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCCACTGTCACCACTGATAGT	0.537																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2788-2790)gGt>gTt		TSC22 domain family, member 1							111.0	104.0	106.0					13																	45147422		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45147422C>A	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2789G>T	13.37:g.45147422C>A	ENSP00000397435:p.Gly930Val					TSC22D1_ENST00000460842.1_5'UTR|TSC22D1_ENST00000501704.2_Intron	p.G930V	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	3279	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	930					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.2789G>T	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424623	0.43020	.	.	ENSG00000102804	ENST00000458659	T	0.31510	1.49	5.16	5.16	0.70880	.	0.099859	0.44285	D	0.000479	T	0.23054	0.0557	L	0.29908	0.895	0.80722	D	1	B	0.25105	0.118	B	0.25614	0.062	T	0.03717	-1.1010	10	0.28530	T	0.3	.	12.6907	0.56972	0.1642:0.8358:0.0:0.0	.	930	Q15714	T22D1_HUMAN	V	930	ENSP00000397435:G930V	ENSP00000397435:G930V	G	-	2	0	TSC22D1	44045422	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.385000	0.44371	2.679000	0.91253	0.561000	0.74099	GGT		0.537	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		9	626	1	0	3.09899e-07	1	3.25297e-07	9	626				
GDE1	51573	broad.mit.edu	37	16	19528372	19528372	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:19528372A>T	ENST00000353258.3	-	2	581	c.401T>A	c.(400-402)aTt>aAt	p.I134N		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	134	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						CAGCTTCCTAATTTGTTCAAA	0.408																																						ENST00000353258.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						c.(400-402)aTt>aAt		glycerophosphodiester phosphodiesterase 1							156.0	138.0	144.0					16																	19528372		2197	4300	6497	SO:0001583	missense	51573				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding	g.chr16:19528372A>T		CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"""membrane interacting protein of RGS16"""	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.401T>A	16.37:g.19528372A>T	ENSP00000261386:p.Ile134Asn						p.I134N	NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN			2	581	-			134			GDPD.		O43334|Q6PKF7|Q7KYR4	Missense_Mutation	SNP	ENST00000353258.3	37	c.401T>A	CCDS10578.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443829	0.83993	.	.	ENSG00000006007	ENST00000353258	T	0.14893	2.47	5.56	5.56	0.83823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.404440	0.27189	N	0.020509	T	0.43389	0.1245	M	0.84683	2.71	0.42041	D	0.991079	P	0.46457	0.878	P	0.57204	0.815	T	0.49011	-0.8983	10	0.87932	D	0	-2.948	15.7008	0.77541	1.0:0.0:0.0:0.0	.	134	Q9NZC3	GDE1_HUMAN	N	134	ENSP00000261386:I134N	ENSP00000261386:I134N	I	-	2	0	GDE1	19435873	0.993000	0.37304	1.000000	0.80357	0.995000	0.86356	8.900000	0.92551	2.124000	0.65301	0.460000	0.39030	ATT		0.408	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		70	575	0	0	0	1	0	70	575				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		13	275	0	0	0	1	0	13	275				
LRRC4C	57689	broad.mit.edu	37	11	40137319	40137319	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:40137319C>T	ENST00000278198.2	-	2	2487	c.524G>A	c.(523-525)cGc>cAc	p.R175H	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R175H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R175H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R175H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	175					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTCTAGTCGGCGCAAAGAAGG	0.428																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(523-525)cGc>cAc		leucine rich repeat containing 4C							92.0	91.0	91.0					11																	40137319		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137319C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.524G>A	11.37:g.40137319C>T	ENSP00000278198:p.Arg175His					LRRC4C_ENST00000530763.1_Missense_Mutation_p.R175H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R175H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R175H	p.R175H			Q9HCJ2	LRC4C_HUMAN			2	2487	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	175					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.524G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305659	0.60305	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.25344	0.0616	M	0.67517	2.055	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.00029	-1.2295	10	0.49607	T	0.09	.	19.0894	0.93221	0.0:1.0:0.0:0.0	.	175	Q9HCJ2	LRC4C_HUMAN	H	175	ENSP00000278198:R175H;ENSP00000436976:R175H;ENSP00000437132:R175H;ENSP00000434761:R175H	ENSP00000278198:R175H	R	-	2	0	LRRC4C	40093895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.050000	0.71063	2.754000	0.94517	0.650000	0.86243	CGC		0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		30	551	0	0	0	1	0	30	551				
LRRCC1	85444	broad.mit.edu	37	8	86027446	86027446	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:86027446G>A	ENST00000360375.3	+	5	805	c.656G>A	c.(655-657)tGc>tAc	p.C219Y	LRRCC1_ENST00000414626.2_Missense_Mutation_p.C199Y	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	219					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CAGCTGCAGTGCCTAGAAGGT	0.323																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(595-597)tGc>tAc		leucine rich repeat and coiled-coil centrosomal protein 1							92.0	94.0	93.0					8																	86027446		1825	4080	5905	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86027446G>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.656G>A	8.37:g.86027446G>A	ENSP00000353538:p.Cys219Tyr					LRRCC1_ENST00000360375.3_Missense_Mutation_p.C219Y	p.C199Y			Q9C099	LRCC1_HUMAN			4	1485	+			219			LRRCT.		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.596G>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747158	0.30955	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	T;T	0.32272	1.46;1.47	5.52	4.63	0.57726	.	0.000000	0.42420	D	0.000701	T	0.31575	0.0801	L	0.59436	1.845	0.38194	D	0.940008	B;B;B	0.18610	0.016;0.029;0.005	B;B;B	0.25614	0.062;0.037;0.014	T	0.18023	-1.0350	10	0.42905	T	0.14	-1.709	12.0541	0.53524	0.0795:0.0:0.9205:0.0	.	199;126;219	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	Y	126;219;199	ENSP00000353538:C219Y;ENSP00000394695:C199Y	ENSP00000353538:C219Y	C	+	2	0	LRRCC1	86214698	1.000000	0.71417	0.998000	0.56505	0.666000	0.39218	6.269000	0.72558	2.585000	0.87301	0.460000	0.39030	TGC		0.323	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		81	579	0	0	0	1	0	81	579				
FPGS	2356	broad.mit.edu	37	9	130575756	130575756	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:130575756C>T	ENST00000373247.2	+	15	1687	c.1637C>T	c.(1636-1638)aCc>aTc	p.T546I	FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000460181.1_3'UTR|RP11-228B15.4_ENST00000439298.1_RNA|FPGS_ENST00000393706.2_Missense_Mutation_p.T520I|FPGS_ENST00000373225.3_Missense_Mutation_p.T496I	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	546					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GGCCTCCTCACCCACCCTGTG	0.607																																						ENST00000373225.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(1486-1488)aCc>aTc		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)						81.0	80.0	80.0					9																	130575756		2203	4300	6503	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130575756C>T		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1637C>T	9.37:g.130575756C>T	ENSP00000362344:p.Thr546Ile					FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373247.2_Missense_Mutation_p.T546I|FPGS_ENST00000393706.2_Missense_Mutation_p.T520I|FPGS_ENST00000460181.1_3'UTR	p.T496I	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN			15	1696	+			546					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.1487C>T	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	C	5.750	0.322762	0.10900	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.14144	2.94;2.94;2.53	5.16	3.12	0.35913	.	0.920751	0.09423	N	0.804181	T	0.09598	0.0236	N	0.14661	0.345	0.80722	D	1	B;B	0.22003	0.063;0.063	B;B	0.20577	0.03;0.03	T	0.13764	-1.0497	10	0.33940	T	0.23	-4.02	11.7357	0.51763	0.4523:0.5477:0.0:0.0	.	520;546	Q05932-4;Q05932	.;FOLC_HUMAN	I	546;520;496	ENSP00000362344:T546I;ENSP00000377309:T520I;ENSP00000362322:T496I	ENSP00000362322:T496I	T	+	2	0	FPGS	129615577	0.211000	0.23529	0.692000	0.30179	0.023000	0.10783	0.343000	0.19944	1.103000	0.41568	0.650000	0.86243	ACC		0.607	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			61	539	0	0	0	1	0	61	539				
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C	rs530929455	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:35930362T>C	ENST00000435235.1	+	10	1230	c.798T>C	c.(796-798)taT>taC	p.Y266Y	SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000494488.2_Silent_p.Y305Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y			Q16181	SEPT7_HUMAN	septin 7	319	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323													T|||	6	0.00119808	0.0	0.0	5008	,	,		16353	0.005		0.0	False		,,,				2504	0.001					ENST00000494488.2																			3	Substitution - coding silent(3)	p.Y320Y(3)	kidney(2)|prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(913-915)taT>taC		septin 7							47.0	41.0	43.0					7																	35930362		1836	4080	5916	SO:0001819	synonymous_variant	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35930362T>C	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.798T>C	7.37:g.35930362T>C						SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron	p.Y305Y			Q16181	SEPT7_HUMAN			10	915	+			319					Q52M76|Q6NX50	Silent	SNP	ENST00000435235.1	37	c.915T>C																																																																																					0.323	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		5	152	0	0	0	1	0	5	152				
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1411							ion channel inhibitor activity (GO:0008200)	p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383																																						ENST00000456556.1																			9	Substitution - Missense(9)	p.H662R(6)|p.H1411R(3)	kidney(6)|lung(3)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4231-4233)cAt>cGt		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96521777T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg					ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R	p.H1411R							63	4316	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.4232A>G		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT		0.383	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	165	0	0	0	1	0	5	165				
ERCC2	2068	broad.mit.edu	37	19	45854979	45854979	+	Splice_Site	SNP	C	C	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45854979C>G	ENST00000391945.4	-	23	2268	c.2191G>C	c.(2191-2193)Gag>Cag	p.E731Q	ERCC2_ENST00000391944.3_Splice_Site_p.E653Q	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	731					7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AGCTGATCCTCCTGCAGAGAA	0.627			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.e23-1	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							62.0	63.0	62.0					19																	45854979		2203	4300	6503	SO:0001630	splice_region_variant	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45854979C>G		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.2191-1G>C	19.37:g.45854979C>G						ERCC2_ENST00000391944.3_Splice_Site_p.E653_splice	p.E731_splice	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	23	2268	-		Ovarian(192;0.0728)|all_neural(266;0.112)	731					Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Splice_Site	SNP	ENST00000391945.4	37	c.2190_splice	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056286	0.76074	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;D	0.82893	-1.44;-1.66	4.13	4.13	0.48395	.	0.058002	0.64402	D	0.000002	D	0.90205	0.6938	M	0.79805	2.47	0.80722	D	1	B;B;D	0.63880	0.066;0.114;0.993	B;B;D	0.72982	0.109;0.04;0.979	D	0.90111	0.4192	10	0.41790	T	0.15	-29.0483	13.9463	0.64086	0.0:1.0:0.0:0.0	.	653;731;424	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	Q	681;707;731;653	ENSP00000375809:E731Q;ENSP00000375808:E653Q	ENSP00000375805:E681Q	E	-	1	0	ERCC2	50546819	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.925000	0.75829	2.153000	0.67306	0.561000	0.74099	GAG		0.627	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400	Missense_Mutation	50	503	0	0	0	1	0	50	503				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		22	420	0	0	0	1	0	22	420				
OTOF	9381	broad.mit.edu	37	2	26702178	26702178	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:26702178C>T	ENST00000272371.2	-	18	2294	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	OTOF_ENST00000339598.3_5'Flank|OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000403946.3_Missense_Mutation_p.R723H|OTOF_ENST00000402415.3_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	723					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGAGGCGGCGGCGCTGGTC	0.652																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(2167-2169)cGc>cAc		otoferlin							27.0	29.0	29.0					2																	26702178		2200	4298	6498	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26702178C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2168G>A	2.37:g.26702178C>T	ENSP00000272371:p.Arg723His					OTOF_ENST00000403946.3_Missense_Mutation_p.R723H	p.R723H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			18	2294	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		723					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.2168G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888835	0.91814	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80123	-1.34;-1.34	4.54	4.54	0.55810	.	0.051541	0.64402	D	0.000001	D	0.84215	0.5423	M	0.82056	2.57	0.54753	D	0.999985	D	0.54397	0.966	P	0.50231	0.635	T	0.82952	-0.0202	10	0.15066	T	0.55	-18.8365	15.9074	0.79442	0.0:1.0:0.0:0.0	.	723	Q9HC10	OTOF_HUMAN	H	723	ENSP00000272371:R723H;ENSP00000385255:R723H	ENSP00000272371:R723H	R	-	2	0	OTOF	26555682	0.983000	0.35010	0.997000	0.53966	0.970000	0.65996	5.961000	0.70356	2.074000	0.62210	0.555000	0.69702	CGC		0.652	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			14	91	0	0	0	1	0	14	91				
KCNA5	3741	broad.mit.edu	37	12	5153781	5153781	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:5153781C>A	ENST00000252321.3	+	1	697	c.468C>A	c.(466-468)ttC>ttA	p.F156L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	156					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TGCGCTACTTCGACCCCCTGA	0.652																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(466-468)ttC>ttA		potassium voltage-gated channel, shaker-related subfamily, member 5							35.0	38.0	37.0					12																	5153781		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153781C>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.468C>A	12.37:g.5153781C>A	ENSP00000252321:p.Phe156Leu						p.F156L	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	697	+			156					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.468C>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219176	0.58560	.	.	ENSG00000130037	ENST00000252321	T	0.75821	-0.97	4.7	1.64	0.23874	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	U	0.000000	D	0.82342	0.5016	M	0.71036	2.16	0.50632	D	0.999888	D	0.76494	0.999	D	0.79784	0.993	T	0.82074	-0.0637	10	0.87932	D	0	.	9.7379	0.40399	0.0:0.676:0.0:0.324	.	156	P22460	KCNA5_HUMAN	L	156	ENSP00000252321:F156L	ENSP00000252321:F156L	F	+	3	2	KCNA5	5024042	0.971000	0.33674	1.000000	0.80357	0.994000	0.84299	0.197000	0.17197	0.598000	0.29829	0.511000	0.50034	TTC		0.652	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		7	304	1	0	0.00307968	1	0.00311656	7	304				
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr22:23243367T>C	ENST00000390323.2	+	0	212				IGLJ2_ENST00000390322.2_RNA			P0CG05	LAC2_HUMAN	immunoglobulin lambda constant 2 (Kern-Oz- marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCAGCAGCTATCTGAGCCTGA	0.587																																						ENST00000390323.2																			0																				76.0	81.0	79.0					22																	23243367		2072	4132	6204			0							g.chr22:23243367T>C	J00253		22q11.2	2012-02-08			ENSG00000211677	ENSG00000211677		"""Immunoglobulins / IGL locus"""	5856	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG05	OTTHUMG00000151214		22.37:g.23243367T>C														0	212	+								A0M8Q4|P80423	RNA	SNP	ENST00000390323.2	37																																																																																						0.587	IGLC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321818.3	NG_000002		7	282	0	0	0	1	0	7	282				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		9	94	1	0	3.09899e-07	1	3.25297e-07	9	94				
NSRP1	84081	broad.mit.edu	37	17	28512093	28512093	+	Missense_Mutation	SNP	G	G	A	rs12947131	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:28512093G>A	ENST00000247026.5	+	7	1141	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	360					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GAAGAGGCATGAACAGGAAGA	0.448													G|||	3	0.000599042	0.0	0.0	5008	,	,		22306	0.003		0.0	False		,,,				2504	0.0					ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(1078-1080)Gaa>Aaa		nuclear speckle splicing regulatory protein 1							44.0	42.0	43.0					17																	28512093		2203	4300	6503	SO:0001583	missense	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28512093G>A	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1078G>A	17.37:g.28512093G>A	ENSP00000247026:p.Glu360Lys					NSRP1_ENST00000540900.3_3'UTR	p.E360K	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			7	1141	+			360					Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	c.1078G>A	CCDS11255.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	21.5	4.158573	0.78226	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	T	0.50277	0.75	6.02	6.02	0.97574	.	0.097554	0.64402	D	0.000002	T	0.54191	0.1843	M	0.69823	2.125	0.80722	D	1	D	0.56521	0.976	P	0.47206	0.541	T	0.49634	-0.8919	10	0.21540	T	0.41	-14.5518	17.3339	0.87274	0.0:0.0:1.0:0.0	rs12947131;rs12947131	360	Q9H0G5	NSRP1_HUMAN	K	360;291;306	ENSP00000247026:E360K	ENSP00000247026:E360K	E	+	1	0	NSRP1	25536219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.108000	0.57817	2.877000	0.98614	0.644000	0.83932	GAA		0.448	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		5	150	0	0	0	1	0	5	150				
NELL2	4753	broad.mit.edu	37	12	44917143	44917143	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:44917143A>T	ENST00000429094.2	-	17	2433	c.1929T>A	c.(1927-1929)gaT>gaA	p.D643E	NELL2_ENST00000549027.1_Missense_Mutation_p.D642E|NELL2_ENST00000452445.2_Missense_Mutation_p.D643E|NELL2_ENST00000395487.2_Missense_Mutation_p.D642E|NELL2_ENST00000551601.1_Missense_Mutation_p.D595E|NELL2_ENST00000437801.2_Missense_Mutation_p.D693E|NELL2_ENST00000333837.4_Missense_Mutation_p.D666E	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	643	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TAACTTTTCCATCATGGATGC	0.413																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1927-1929)gaT>gaA		NEL-like 2 (chicken)							166.0	159.0	161.0					12																	44917143		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44917143A>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1929T>A	12.37:g.44917143A>T	ENSP00000390680:p.Asp643Glu					NELL2_ENST00000549027.1_Missense_Mutation_p.D642E|NELL2_ENST00000452445.2_Missense_Mutation_p.D643E|NELL2_ENST00000551601.1_Missense_Mutation_p.D595E|NELL2_ENST00000437801.2_Missense_Mutation_p.D693E|NELL2_ENST00000333837.4_Missense_Mutation_p.D666E|NELL2_ENST00000395487.2_Missense_Mutation_p.D642E	p.D643E	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	17	2433	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	643			VWFC 3.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.1929T>A	CCDS8746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.402|6.402	0.442294|0.442294	0.12164|0.12164	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801|ENST00000550139	T;T;T;T;T;T;D|.	0.81739|.	-1.47;-1.46;-1.13;-1.46;-1.47;-1.4;-1.53|.	5.82|5.82	-1.94|-1.94	0.07571|0.07571	von Willebrand factor, type C (2);|.	0.336601|.	0.33753|.	N|.	0.004596|.	T|T	0.12902|0.12902	0.0313|0.0313	N|N	0.10629|0.10629	0.01|0.01	0.29822|0.29822	N|N	0.830744|0.830744	B;B;B;B;B|.	0.06786|.	0.0;0.0;0.001;0.0;0.0|.	B;B;B;B;B|.	0.08055|.	0.001;0.001;0.003;0.001;0.001|.	T|T	0.26780|0.26780	-1.0093|-1.0093	10|5	0.02654|.	T|.	1|.	-8.98|-8.98	0.8838|0.8838	0.01240|0.01240	0.3152:0.0985:0.2528:0.3335|0.3152:0.0985:0.2528:0.3335	.|.	666;693;595;643;642|.	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2|.	.;.;.;NELL2_HUMAN;.|.	E|R	642;643;595;643;642;666;693|56	ENSP00000378866:D642E;ENSP00000390680:D643E;ENSP00000449332:D595E;ENSP00000394612:D643E;ENSP00000447927:D642E;ENSP00000327988:D666E;ENSP00000416341:D693E|.	ENSP00000327988:D666E|.	D|W	-|-	3|1	2|0	NELL2|NELL2	43203410|43203410	0.983000|0.983000	0.35010|0.35010	0.406000|0.406000	0.26421|0.26421	0.961000|0.961000	0.63080|0.63080	0.473000|0.473000	0.22132|0.22132	-0.594000|-0.594000	0.05836|0.05836	0.523000|0.523000	0.50628|0.50628	GAT|TGG		0.413	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		83	701	0	0	0	1	0	83	701				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			10	225	0	0	0	1	0	10	225				
ZNF777	27153	broad.mit.edu	37	7	149129516	149129516	+	Missense_Mutation	SNP	G	G	A	rs552895043		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:149129516G>A	ENST00000247930.4	-	6	2170	c.1847C>T	c.(1846-1848)gCg>gTg	p.A616V		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	616					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGGCTTGAGCGCGTGCTTGGG	0.672																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1846-1848)gCg>gTg		zinc finger protein 777							66.0	78.0	74.0					7																	149129516		2161	4259	6420	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129516G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1847C>T	7.37:g.149129516G>A	ENSP00000247930:p.Ala616Val						p.A616V	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2170	-	Melanoma(164;0.165)		616					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1847C>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216935	0.39201	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.05319	3.46	5.02	5.02	0.67125	.	1.524830	0.03983	N	0.293589	T	0.07458	0.0188	N	0.25144	0.715	0.30708	N	0.749545	B	0.28971	0.229	B	0.24269	0.052	T	0.30621	-0.9972	10	0.24483	T	0.36	-3.7701	15.8456	0.78887	0.0:0.0:1.0:0.0	.	616	Q9ULD5-2	.	V	616;359	ENSP00000247930:A616V	ENSP00000247930:A616V	A	-	2	0	ZNF777	148760449	0.825000	0.29262	0.934000	0.37439	0.724000	0.41520	3.866000	0.56040	2.328000	0.79073	0.460000	0.39030	GCG		0.672	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		91	593	0	0	0	1	0	91	593				
TECR	9524	broad.mit.edu	37	19	14674472	14674472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:14674472C>T	ENST00000215567.5	+	4	258	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S	TECR_ENST00000596164.1_3'UTR|TECR_ENST00000436007.2_Missense_Mutation_p.P56S|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	41					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						CCCCGCAGATCCGCAGTGGTA	0.697																																						ENST00000436007.2																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(166-168)Ccg>Tcg		trans-2,3-enoyl-CoA reductase							25.0	28.0	27.0					19																	14674472		2203	4298	6501	SO:0001583	missense	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14674472C>T	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.121C>T	19.37:g.14674472C>T	ENSP00000215567:p.Pro41Ser					TECR_ENST00000215567.5_Missense_Mutation_p.P41S|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000596164.1_3'UTR	p.P56S			Q9NZ01	TECR_HUMAN			5	290	+			41					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	c.166C>T	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409144	0.62399	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.46451	0.87;0.87	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	L	0.48218	1.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.56335	-0.7996	10	0.45353	T	0.12	-10.426	16.3276	0.82990	0.0:1.0:0.0:0.0	.	41;56;41	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	S	41;56	ENSP00000215567:P41S;ENSP00000397206:P56S	ENSP00000215567:P41S	P	+	1	0	TECR	14535472	1.000000	0.71417	0.989000	0.46669	0.027000	0.11550	4.298000	0.59067	2.462000	0.83206	0.561000	0.74099	CCG		0.697	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		12	200	0	0	0	1	0	12	200				
TMCC2	9911	broad.mit.edu	37	1	205241064	205241064	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:205241064A>G	ENST00000358024.3	+	5	2331	c.1942A>G	c.(1942-1944)Aac>Gac	p.N648D	TMCC2_ENST00000329800.7_Missense_Mutation_p.N408D|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.N423D|TMCC2_ENST00000545499.1_Missense_Mutation_p.N570D	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	648						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAAGTTCATCAACGTGATCCT	0.627																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1942-1944)Aac>Gac		transmembrane and coiled-coil domain family 2							209.0	168.0	182.0					1																	205241064		2203	4300	6503	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205241064A>G	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1942A>G	1.37:g.205241064A>G	ENSP00000350718:p.Asn648Asp					TMCC2_ENST00000329800.7_Missense_Mutation_p.N408D|TMCC2_ENST00000545499.1_Missense_Mutation_p.N570D|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.N423D	p.N648D	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	2331	+	Breast(84;0.0871)		648					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.1942A>G	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	A	32	5.136024	0.94517	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000330675;ENST00000329800	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.75831	0.3903	M	0.88181	2.935	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.69479	0.94;0.964;0.964	T	0.81191	-0.1045	10	0.72032	D	0.01	.	15.1067	0.72326	1.0:0.0:0.0:0.0	.	408;423;648	G5E963;B2RAX5;O75069	.;.;TMCC2_HUMAN	D	648;570;423;408	ENSP00000350718:N648D;ENSP00000437943:N570D;ENSP00000331842:N423D;ENSP00000329436:N408D	ENSP00000329436:N408D	N	+	1	0	TMCC2	203507687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.233000	0.73108	0.533000	0.62120	AAC		0.627	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		70	512	0	0	0	1	0	70	512				
SBSN	374897	broad.mit.edu	37	19	36018251	36018251	+	Silent	SNP	T	T	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:36018251T>A	ENST00000452271.2	-	1	961	c.933A>T	c.(931-933)gcA>gcT	p.A311A	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	311	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAAATCTCCCTGCCTCATTTC	0.657																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(931-933)gcA>gcT		suprabasin							40.0	44.0	43.0					19																	36018251		692	1591	2283	SO:0001819	synonymous_variant	374897					extracellular region		g.chr19:36018251T>A	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.933A>T	19.37:g.36018251T>A						SBSN_ENST00000518157.1_Intron	p.A311A	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	961	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		184					A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	c.933A>T	CCDS54253.1																																																																																				0.657	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		5	52	0	0	0	1	0	5	52				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A	rs201214605		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731																																						ENST00000432432.2																			2	Substitution - Missense(2)	p.R64L(2)	lung(1)|kidney(1)																																																0							g.chr2:95522727C>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522727C>A								NR_040113.1						0	300	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.731	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	198	1	0	4.68919e-08	1	4.98411e-08	6	198				
LDLRAD3	143458	broad.mit.edu	37	11	36250849	36250849	+	Missense_Mutation	SNP	G	G	A	rs367902001		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:36250849G>A	ENST00000315571.5	+	6	961	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	LDLRAD3_ENST00000528989.1_Missense_Mutation_p.V265M|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.V304M	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	314					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCTCCTGAGCGTGGAAGACAC	0.662																																						ENST00000315571.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28						c.(940-942)Gtg>Atg		low density lipoprotein receptor class A domain containing 3		G	MET/VAL	0,4404		0,0,2202	57.0	67.0	63.0		940	-1.1	0.0	11		63	1,8589		0,1,4294	no	missense	LDLRAD3	NM_174902.2	21	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	314/346	36250849	1,12993	2202	4295	6497	SO:0001583	missense	143458					integral to membrane	receptor activity	g.chr11:36250849G>A	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.940G>A	11.37:g.36250849G>A	ENSP00000318607:p.Val314Met					LDLRAD3_ENST00000528989.1_Missense_Mutation_p.V265M|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.V304M	p.V314M	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN			6	961	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	314					B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	ENST00000315571.5	37	c.940G>A	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	G	9.730	1.161967	0.21538	0.0	1.16E-4	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000315571	D;D;D	0.94576	-3.46;-3.33;-3.22	5.22	-1.14	0.09741	.	1.345450	0.04918	N	0.454465	D	0.86151	0.5864	N	0.14661	0.345	0.09310	N	1	B;B;B	0.15473	0.013;0.003;0.003	B;B;B	0.08055	0.003;0.0;0.0	T	0.73984	-0.3810	10	0.38643	T	0.18	.	2.0251	0.03517	0.5317:0.1415:0.1838:0.1429	.	304;265;314	E9PR86;B7Z1U3;Q86YD5	.;.;LRAD3_HUMAN	M	265;304;314	ENSP00000433954:V265M;ENSP00000434313:V304M;ENSP00000318607:V314M	ENSP00000318607:V314M	V	+	1	0	LDLRAD3	36207425	0.000000	0.05858	0.031000	0.17742	0.580000	0.36256	-0.821000	0.04452	-0.105000	0.12132	0.563000	0.77884	GTG		0.662	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		16	931	0	0	0	1	0	16	931				
MYT1	4661	broad.mit.edu	37	20	62851191	62851191	+	Silent	SNP	C	C	T	rs117853857		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:62851191C>T	ENST00000328439.1	+	13	2461	c.2097C>T	c.(2095-2097)gaC>gaT	p.D699D	MYT1_ENST00000536311.1_Silent_p.D726D|MYT1_ENST00000360149.4_Silent_p.D401D	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGTCTCCCGACGCCTCCCAGC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16055	0.001		0.0	False		,,,				2504	0.0				GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2176-2178)gaC>gaT		myelin transcription factor 1							38.0	39.0	39.0					20																	62851191		2203	4299	6502	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62851191C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2097C>T	20.37:g.62851191C>T						MYT1_ENST00000360149.4_Silent_p.D401D|MYT1_ENST00000328439.1_Silent_p.D699D	p.D726D			Q01538	MYT1_HUMAN			13	2542	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		699					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.2178C>T	CCDS13558.1																																																																																				0.657	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		8	83	0	0	0	1	0	8	83				
NDUFA13	51079	broad.mit.edu	37	19	19625658	19625658	+	5'Flank	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:19625658G>A	ENST00000507754.4	+	0	0				NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000252576.5_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|TSSK6_ENST00000360913.3_Silent_p.Y193Y|TSSK6_ENST00000585580.3_Silent_p.Y193Y|YJEFN3_ENST00000608404.1_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TCCACACATCGTACTTCTTGG	0.662																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(577-579)taC>taT		testis-specific serine kinase 6							53.0	40.0	44.0					19																	19625658		2203	4299	6502	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625658G>A	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625658G>A	Exception_encountered					TSSK6_ENST00000585580.3_Silent_p.Y193Y	p.Y193Y			Q9BXA6	TSSK6_HUMAN			1	1180	-			193			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	c.579C>T	CCDS12404.2																																																																																				0.662	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		22	156	0	0	0	1	0	22	156				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(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	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	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.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	p.R248W	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)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	216	0	0	0	1	0	37	216				
MAGEL2	54551	broad.mit.edu	37	15	23890566	23890566	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:23890566T>C	ENST00000532292.1	-	1	609	c.515A>G	c.(514-516)aAc>aGc	p.N172S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	55					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCAGGCAGGTTTTTCCAGGC	0.587																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(514-516)aAc>aGc		MAGE-like 2							47.0	54.0	52.0					15																	23890566		2017	4186	6203	SO:0001583	missense	54551							g.chr15:23890566T>C	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.515A>G	15.37:g.23890566T>C	ENSP00000433433:p.Asn172Ser						p.N172S	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	609	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.515A>G		.	.	.	.	.	.	.	.	.	.	T	1.611	-0.523921	0.04141	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.08	-6.12	0.02124	.	.	.	.	.	T	0.23649	0.0572	N	0.24115	0.695	0.09310	N	1	.	.	.	.	.	.	T	0.28776	-1.0033	5	.	.	.	.	6.4455	0.21873	0.0:0.3177:0.3652:0.317	.	.	.	.	A	204	.	.	T	-	1	0	MAGEL2	21441659	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.962000	0.03841	-1.381000	0.02112	-1.151000	0.01829	ACC		0.587	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		6	212	0	0	0	1	0	6	212				
ADH1A	124	broad.mit.edu	37	4	100205883	100205883	+	Silent	SNP	A	A	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:100205883A>G	ENST00000209668.2	-	4	450	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	ADH1A_ENST00000511656.1_5'Flank|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	113					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TCGTTTTTCAAGCAGTAGTTG	0.433																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(337-339)Ttg>Ctg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						120.0	117.0	118.0					4																	100205883		2203	4300	6503	SO:0001819	synonymous_variant	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100205883A>G	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.337T>C	4.37:g.100205883A>G						RP11-696N14.1_ENST00000500358.2_RNA	p.L113L	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	4	450	-			113					A8K3E3|Q17R68	Silent	SNP	ENST00000209668.2	37	c.337T>C	CCDS3648.1																																																																																				0.433	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		52	292	0	0	0	1	0	52	292				
SNHG14	104472715	broad.mit.edu	37	15	25287181	25287181	+	RNA	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:25287181G>A	ENST00000552781.1	+	0	328				SNORD109A_ENST00000459128.1_RNA																							ATGTCAATCTGAGGTCCAGAT	0.478																																						ENST00000552781.1																			0																				56.0	53.0	54.0					15																	25287181		876	1991	2867			0							g.chr15:25287181G>A																													15.37:g.25287181G>A						SNORD109A_ENST00000459128.1_RNA								0	328	+									RNA	SNP	ENST00000552781.1	37																																																																																						0.478	RP11-701H24.10-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473258.1			13	172	0	0	0	1	0	13	172				
TSTA3	7264	broad.mit.edu	37	8	144698284	144698284	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:144698284C>T	ENST00000425753.2	-	3	356	c.253G>A	c.(253-255)Gac>Aac	p.D85N	TSTA3_ENST00000529064.1_Missense_Mutation_p.D85N	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	85					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACCCAGAAGTCCAAATTGTAT	0.562																																						ENST00000425753.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(253-255)Gac>Aac		tissue specific transplantation antigen P35B	NADH(DB00157)						111.0	110.0	110.0					8																	144698284		2203	4300	6503	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144698284C>T	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.253G>A	8.37:g.144698284C>T	ENSP00000398803:p.Asp85Asn					TSTA3_ENST00000529064.1_Missense_Mutation_p.D85N	p.D85N	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		3	356	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		85					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.253G>A	CCDS6408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.477638|5.477638	0.96291|0.96291	.|.	.|.	ENSG00000104522|ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817;ENST00000526290|ENST00000527006	D;D;D;D;D|.	0.94138|.	-3.36;-3.36;-3.36;-3.36;-3.36|.	4.75|4.75	4.75|4.75	0.60458|0.60458	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);|.	0.266244|.	0.39759|.	N|.	0.001266|.	D|.	0.85173|.	0.5636|.	M|M	0.93283|0.93283	3.4|3.4	0.80722|0.80722	D|D	1|1	D;D|.	0.56035|.	0.974;0.958|.	P;P|.	0.62382|.	0.901;0.77|.	D|.	0.89272|.	0.3605|.	10|.	0.87932|.	D|.	0|.	-33.5833|-33.5833	14.467|14.467	0.67490|0.67490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	85;85|.	B4DZW9;Q13630|.	.;FCL_HUMAN|.	N|X	85|117	ENSP00000435386:D85N;ENSP00000398803:D85N;ENSP00000431587:D85N;ENSP00000437012:D85N;ENSP00000433331:D85N|.	ENSP00000398803:D85N|.	D|W	-|-	1|3	0|0	TSTA3|TSTA3	144769427|144769427	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	5.485000|5.485000	0.66850|0.66850	2.158000|2.158000	0.67659|0.67659	0.655000|0.655000	0.94253|0.94253	GAC|TGG		0.562	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		90	493	0	0	0	1	0	90	493				
KLC3	147700	broad.mit.edu	37	19	45853603	45853603	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45853603C>G	ENST00000391946.2	+	9	1250	c.1148C>G	c.(1147-1149)tCa>tGa	p.S383*	ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000585434.1_Nonsense_Mutation_p.S382*|KLC3_ENST00000470402.1_Nonsense_Mutation_p.S397*	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	383					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCGCAGGCCTCAGCCTACCTG	0.532																																						ENST00000470402.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8						c.(1189-1191)tCa>tGa		kinesin light chain 3							48.0	52.0	50.0					19																	45853603		1886	4121	6007	SO:0001587	stop_gained	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45853603C>G	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1148C>G	19.37:g.45853603C>G	ENSP00000375810:p.Ser383*					KLC3_ENST00000585434.1_Nonsense_Mutation_p.S382*|ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000391946.2_Nonsense_Mutation_p.S383*	p.S397*			Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	1290	+		Ovarian(192;0.0728)|all_neural(266;0.112)	383					A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Nonsense_Mutation	SNP	ENST00000391946.2	37	c.1190C>G	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	C	33	5.269984	0.95429	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	.	.	.	3.74	3.74	0.42951	.	0.094375	0.44285	D	0.000478	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	1.0098	13.0785	0.59100	0.0:1.0:0.0:0.0	.	.	.	.	X	383;397	.	ENSP00000375810:S383X	S	+	2	0	KLC3	50545443	1.000000	0.71417	0.980000	0.43619	0.644000	0.38419	7.541000	0.82084	1.913000	0.55393	0.462000	0.41574	TCA		0.532	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		17	270	0	0	0	1	0	17	270				
MUC4	4585	broad.mit.edu	37	3	195508343	195508343	+	Missense_Mutation	SNP	A	A	T	rs555793435|rs396680		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:195508343A>T	ENST00000463781.3	-	2	10567	c.10108T>A	c.(10108-10110)Tcc>Acc	p.S3370T	MUC4_ENST00000475231.1_Missense_Mutation_p.S3370T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCACCTGTGGAAGCTGAGGAA	0.587																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(10108-10110)Tcc>Acc		mucin 4, cell surface associated							36.0	31.0	33.0					3																	195508343		686	1582	2268	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195508343A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10108T>A	3.37:g.195508343A>T	ENSP00000417498:p.Ser3370Thr					MUC4_ENST00000475231.1_Missense_Mutation_p.S3370T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.S3370T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	10567	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	147					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.10108T>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	a	3.051	-0.195478	0.06259	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.38401	1.29;1.14	0.423	-0.846	0.10734	.	.	.	.	.	T	0.15046	0.0363	N	0.19112	0.55	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.13818	-1.0495	8	.	.	.	.	4.4467	0.11600	0.3383:0.0:0.6617:0.0	.	3242	E7ESK3	.	T	3370	ENSP00000417498:S3370T;ENSP00000420243:S3370T	.	S	-	1	0	MUC4	196993122	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	-2.391000	0.01057	-0.409000	0.07553	0.076000	0.15429	TCC		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		5	19	0	0	0	1	0	5	19				
CAPS2	84698	broad.mit.edu	37	12	75687069	75687069	+	Nonsense_Mutation	SNP	G	G	A	rs201447508		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:75687069G>A	ENST00000409445.3	-	13	1376	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	CAPS2_ENST00000442339.2_5'UTR|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000393284.3_Nonsense_Mutation_p.R162*|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.R312*	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	394							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTTGTGATTCGGAGTTTAAGT	0.318																																						ENST00000393284.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.(484-486)Cga>Tga		calcyphosine 2							125.0	114.0	118.0					12																	75687069		2203	4300	6503	SO:0001587	stop_gained	84698						calcium ion binding	g.chr12:75687069G>A	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1180C>T	12.37:g.75687069G>A	ENSP00000386959:p.Arg394*					RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409445.3_Nonsense_Mutation_p.R394*|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.R312*|CAPS2_ENST00000442339.2_5'UTR	p.R162*			Q9BXY5	CAYP2_HUMAN			12	1085	-			394					Q6PH84|Q8N242|Q8NAY5	Nonsense_Mutation	SNP	ENST00000409445.3	37	c.484C>T	CCDS9008.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.2	4.110650	0.77210	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	.	.	.	4.6	4.6	0.57074	.	0.130292	0.34245	N	0.004139	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0574	8.339	0.32232	0.0819:0.0:0.7645:0.1536	.	.	.	.	X	312;394;130;162	.	ENSP00000367975:R130X	R	-	1	2	CAPS2	73973336	1.000000	0.71417	0.988000	0.46212	0.091000	0.18340	3.286000	0.51724	2.282000	0.76494	0.446000	0.29264	CGA		0.318	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			11	250	0	0	0	1	0	11	250				
LMLN	89782	broad.mit.edu	37	3	197707289	197707289	+	Silent	SNP	C	C	T	rs146220433		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:197707289C>T	ENST00000330198.4	+	6	664	c.642C>T	c.(640-642)taC>taT	p.Y214Y	LMLN_ENST00000332636.5_Silent_p.Y162Y|LMLN_ENST00000482695.1_Silent_p.Y162Y|LMLN_ENST00000420910.2_Silent_p.Y214Y	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	214					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTGTTCTTTACGTTGGTGCTC	0.527																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(640-642)taC>taT		leishmanolysin-like (metallopeptidase M8 family)		C	,	1,4405	2.1+/-5.4	0,1,2202	164.0	152.0	156.0		642,642	2.4	1.0	3	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LMLN	NM_001136049.2,NM_033029.3	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	214/693,214/656	197707289	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197707289C>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.642C>T	3.37:g.197707289C>T						LMLN_ENST00000482695.1_Silent_p.Y162Y|LMLN_ENST00000420910.2_Silent_p.Y214Y|LMLN_ENST00000332636.5_Silent_p.Y162Y	p.Y214Y	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	6	664	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	214					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	c.642C>T	CCDS3332.1																																																																																				0.527	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		25	781	0	0	0	1	0	25	781				
NLRC5	84166	broad.mit.edu	37	16	57060803	57060803	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:57060803G>A	ENST00000262510.6	+	6	2173	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	NLRC5_ENST00000436936.1_Missense_Mutation_p.D650N|NLRC5_ENST00000539144.1_Missense_Mutation_p.D650N|NLRC5_ENST00000308149.7_Missense_Mutation_p.D650N	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	650					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GACCTGCACCGACCTGGCCAC	0.602																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(1948-1950)Gac>Aac		NLR family, CARD domain containing 5							116.0	92.0	101.0					16																	57060803		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57060803G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1948G>A	16.37:g.57060803G>A	ENSP00000262510:p.Asp650Asn					NLRC5_ENST00000539144.1_Missense_Mutation_p.D650N|NLRC5_ENST00000262510.6_Missense_Mutation_p.D650N|NLRC5_ENST00000308149.7_Missense_Mutation_p.D650N	p.D650N			Q86WI3	NLRC5_HUMAN			6	2173	+		all_neural(199;0.225)	650					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.1948G>A	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.20|16.20	3.055616|3.055616	0.55325|0.55325	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.54675|.	0.56;0.56;0.56;0.56;0.56;0.56|.	5.52|5.52	4.57|4.57	0.56435|0.56435	.|.	0.000000|.	0.36591|.	N|.	0.002501|.	T|T	0.70011|0.70011	0.3175|0.3175	M|M	0.79475|0.79475	2.455|2.455	0.33435|0.33435	D|D	0.581619|0.581619	D;D;D;D|.	0.89917|.	1.0;1.0;0.993;0.992|.	D;D;P;D|.	0.97110|.	1.0;1.0;0.88;0.915|.	T|T	0.79398|0.79398	-0.1820|-0.1820	10|5	0.41790|.	T|.	0.15|.	.|.	13.374|13.374	0.60728|0.60728	0.0759:0.0:0.9241:0.0|0.0759:0.0:0.9241:0.0	.|.	650;650;650;650|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	N|Q	650;650;650;124;650;157;5|402	ENSP00000262510:D650N;ENSP00000308886:D650N;ENSP00000389739:D650N;ENSP00000441727:D650N;ENSP00000441597:D157N;ENSP00000440153:D5N|.	ENSP00000262510:D650N|.	D|R	+|+	1|2	0|0	NLRC5|NLRC5	55618304|55618304	1.000000|1.000000	0.71417|0.71417	0.861000|0.861000	0.33841|0.33841	0.050000|0.050000	0.14768|0.14768	6.066000|6.066000	0.71185|0.71185	1.338000|1.338000	0.45544|0.45544	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.602	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		20	416	0	0	0	1	0	20	416				
PGAP2	27315	broad.mit.edu	37	11	3838588	3838588	+	Intron	SNP	G	G	A	rs575675293		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:3838588G>A	ENST00000463452.2	+	2	248				PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000278243.4_Silent_p.T57T|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000396991.2_Silent_p.T57T|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000396986.2_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000300730.6_Intron	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2						GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CTTAGGCCACGCCCTGCAGGA	0.592													G|||	0	0.0	0.0	0.0	5008	,	,		19533	0.0		0.0	False		,,,				2504	0.0					ENST00000278243.4																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(169-171)acG>acA		post-GPI attachment to proteins 2							115.0	106.0	109.0					11																	3838588		2201	4298	6499	SO:0001627	intron_variant	27315				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity	g.chr11:3838588G>A	AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.165+5934G>A	11.37:g.3838588G>A						PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000463452.2_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000396991.2_Silent_p.T57T|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000396986.2_Intron	p.T57T	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN			3	372	+			57					E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Silent	SNP	ENST00000463452.2	37	c.171G>A	CCDS58112.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433703	0.43224	.	.	ENSG00000148985	ENST00000464906	.	.	.	5.53	3.17	0.36434	.	.	.	.	.	T	0.46639	0.1403	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36335	-0.9752	4	.	.	.	-6.5099	3.4615	0.07535	0.0:0.1383:0.2448:0.617	.	.	.	.	H	87	.	.	R	+	2	0	PGAP2	3795164	0.998000	0.40836	0.998000	0.56505	0.948000	0.59901	1.221000	0.32503	0.919000	0.36945	-0.275000	0.10095	CGC		0.592	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1			55	422	0	0	0	1	0	55	422				
PARP14	54625	broad.mit.edu	37	3	122422822	122422822	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:122422822C>T	ENST00000474629.2	+	7	3581	c.3315C>T	c.(3313-3315)ctC>ctT	p.L1105L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1105	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CATCTTCACTCAAGGTTGGGC	0.483																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3313-3315)ctC>ctT		poly (ADP-ribose) polymerase family, member 14							111.0	112.0	111.0					3																	122422822		1971	4147	6118	SO:0001819	synonymous_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122422822C>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3315C>T	3.37:g.122422822C>T							p.L1105L	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	7	3581	+			1105			Macro 2.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	c.3315C>T	CCDS46894.1																																																																																				0.483	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		8	443	0	0	0	1	0	8	443				
KLC3	147700	broad.mit.edu	37	19	45853629	45853629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:45853629C>T	ENST00000391946.2	+	9	1276	c.1174C>T	c.(1174-1176)Caa>Taa	p.Q392*	ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000585434.1_Nonsense_Mutation_p.Q391*|KLC3_ENST00000470402.1_Nonsense_Mutation_p.Q406*	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	392					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GAACAAGTATCAACAAGCGGA	0.567																																						ENST00000470402.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8						c.(1216-1218)Caa>Taa		kinesin light chain 3							57.0	61.0	59.0					19																	45853629		1909	4123	6032	SO:0001587	stop_gained	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45853629C>T	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1174C>T	19.37:g.45853629C>T	ENSP00000375810:p.Gln392*					KLC3_ENST00000585434.1_Nonsense_Mutation_p.Q391*|ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000391946.2_Nonsense_Mutation_p.Q392*	p.Q406*			Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	1316	+		Ovarian(192;0.0728)|all_neural(266;0.112)	392					A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Nonsense_Mutation	SNP	ENST00000391946.2	37	c.1216C>T	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816862	0.90790	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	.	.	.	3.93	-1.34	0.09143	.	0.172476	0.38436	N	0.001693	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	12.5559	7.0831	0.25241	0.2875:0.2665:0.446:0.0	.	.	.	.	X	392;406	.	ENSP00000375810:Q392X	Q	+	1	0	KLC3	50545469	0.571000	0.26659	0.999000	0.59377	0.813000	0.45954	0.192000	0.17096	0.256000	0.21614	0.462000	0.41574	CAA		0.567	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		28	301	0	0	0	1	0	28	301				
GPR45	11250	broad.mit.edu	37	2	105858390	105858390	+	Silent	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:105858390G>A	ENST00000258456.1	+	1	191	c.75G>A	c.(73-75)ggG>ggA	p.G25G		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CAGACTCGGGGTCCACCCAGT	0.602																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(73-75)ggG>ggA		G protein-coupled receptor 45							106.0	99.0	101.0					2																	105858390		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858390G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.75G>A	2.37:g.105858390G>A							p.G25G	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	191	+			25					Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.75G>A	CCDS2066.1																																																																																				0.602	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		26	406	0	0	0	1	0	26	406				
POU4F1	5457	broad.mit.edu	37	13	79175754	79175754	+	Silent	SNP	G	G	T	rs549899918		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:79175754G>T	ENST00000377208.5	-	2	1267	c.1056C>A	c.(1054-1056)ggC>ggA	p.G352G	RNF219-AS1_ENST00000606429.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	352					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.G352G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTTCTCGCCGCCGTTGAAGA	0.652																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			1	Substitution - coding silent(1)	p.G352G(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(1054-1056)ggC>ggA		POU class 4 homeobox 1							29.0	33.0	32.0					13																	79175754		2203	4300	6503	SO:0001819	synonymous_variant	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79175754G>T	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1056C>A	13.37:g.79175754G>T						RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	p.G352G	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	1267	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	352					Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	c.1056C>A	CCDS31996.1																																																																																				0.652	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			10	187	1	0	6.40141e-05	1	6.67802e-05	10	187				
MAGEB16	139604	broad.mit.edu	37	X	35820358	35820358	+	Silent	SNP	C	C	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:35820358C>T	ENST00000399989.1	+	2	324	c.45C>T	c.(43-45)caC>caT	p.H15H	MAGEB16_ENST00000399987.1_Silent_p.H15H|MAGEB16_ENST00000399988.1_Silent_p.H15H|MAGEB16_ENST00000399992.1_Silent_p.H47H|MAGEB16_ENST00000399985.1_Silent_p.H15H	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	15										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGATCAGCACCTTCAGACCT	0.572																																						ENST00000399989.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(43-45)caC>caT		melanoma antigen family B, 16							50.0	52.0	51.0					X																	35820358		2113	4208	6321	SO:0001819	synonymous_variant	139604							g.chrX:35820358C>T		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.45C>T	X.37:g.35820358C>T						MAGEB16_ENST00000399985.1_Silent_p.H15H|MAGEB16_ENST00000399987.1_Silent_p.H15H|MAGEB16_ENST00000399988.1_Silent_p.H15H|MAGEB16_ENST00000399992.1_Silent_p.H47H	p.H15H	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN			2	324	+			15					A8MU30	Silent	SNP	ENST00000399989.1	37	c.45C>T	CCDS43927.1																																																																																				0.572	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			22	116	0	0	0	1	0	22	116				
NFATC2	4773	broad.mit.edu	37	20	50140613	50140613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:50140613G>A	ENST00000396009.3	-	2	386	c.167C>T	c.(166-168)tCc>tTc	p.S56F	NFATC2_ENST00000371564.3_Missense_Mutation_p.S56F|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.S36F|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.S36F	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	56					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGCGGGTCCGGAGGGTGGGCT	0.597																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(166-168)tCc>tTc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							49.0	57.0	54.0					20																	50140613		2202	4300	6502	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140613G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.167C>T	20.37:g.50140613G>A	ENSP00000379330:p.Ser56Phe					NFATC2_ENST00000414705.1_Missense_Mutation_p.S36F|NFATC2_ENST00000396009.3_Missense_Mutation_p.S56F	p.S56F	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	386	-	Hepatocellular(150;0.248)		56					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.167C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577607	0.65878	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.18016	2.26;2.26;2.24	5.13	5.13	0.70059	.	0.428509	0.25903	N	0.027548	T	0.30479	0.0766	N	0.22421	0.69	0.50039	D	0.999842	D;D;D;D	0.71674	0.997;0.998;0.998;0.998	P;D;D;D	0.78314	0.897;0.991;0.943;0.987	T	0.07501	-1.0769	10	0.54805	T	0.06	-28.7684	18.9234	0.92536	0.0:0.0:1.0:0.0	.	36;36;56;56	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	F	56;56;36	ENSP00000360619:S56F;ENSP00000379330:S56F;ENSP00000396471:S36F	ENSP00000360619:S56F	S	-	2	0	NFATC2	49574020	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.705000	0.91357	2.550000	0.86006	0.313000	0.20887	TCC		0.597	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		20	393	0	0	0	1	0	20	393				
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(343-345)afs		DnaJ (Hsp40) homolog, subfamily C, member 11																																				SO:0001589	frameshift_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727803_6727804delTC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs					DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs	p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	4	466_467	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	116					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	c.343_344delGA	CCDS87.1																																																																																				0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		12	285						12	285	---	---	---	---
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)aagdel	p.K396del	RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1186-1188)del		serine/arginine-rich splicing factor 4				32,4234		1,30,2102						4.8	1.0			113	49,8205		3,43,4081	no	coding	SRSF4	NM_005626.4		4,73,6183	A1A1,A1R,RR		0.5937,0.7501,0.647				81,12439				SO:0001651	inframe_deletion	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475219_29475221delCTT	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1186_1188delAAG	1.37:g.29475228_29475230delCTT	ENSP00000362900:p.Lys396del					SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR	p.K396del	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1420_1422	-			396			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	In_Frame_Del	DEL	ENST00000373795.4	37	c.1186_1188delAAG	CCDS333.1																																																																																				0.601	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		19	812						19	812	---	---	---	---
ZBTB8A	653121	broad.mit.edu	37	1	33065979	33065981	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:33065979_33065981delGAA	ENST00000373510.4	+	5	1514_1516	c.1285_1287delGAA	c.(1285-1287)gaadel	p.E433del	ZBTB8A_ENST00000316459.4_3'UTR|ZBTB8OS_ENST00000341885.5_Intron|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	433	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TGATGATAGTGAAGAAGAAGAAG	0.414																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(1285-1287)del		zinc finger and BTB domain containing 8A				3,6,4257		0,0,3,0,6,2124						1.9	1.0			101	0,20,8234		0,0,0,0,20,4107	no	codingComplex	ZBTB8A	NM_001040441.1		0,0,3,0,26,6231	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2423,0.211,0.2316				3,26,12491				SO:0001651	inframe_deletion	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33065979_33065981delGAA	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.1285_1287delGAA	1.37:g.33065988_33065990delGAA	ENSP00000362609:p.Glu433del					ZBTB8OS_ENST00000341885.5_Intron|RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_3'UTR	p.E433del	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			5	1514_1516	+			433			Poly-Glu.		Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	In_Frame_Del	DEL	ENST00000373510.4	37	c.1285_1287delGAA	CCDS30664.1																																																																																				0.414	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		9	422						9	422	---	---	---	---
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406																																						ENST00000372766.3																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(43-45)tfs		transmembrane and coiled-coil domains 2																																				SO:0001589	frameshift_variant	127391					integral to membrane		g.chr1:40713708_40713709delTC	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.43_44delTC	1.37:g.40713718_40713719delTC	ENSP00000361852:p.Ser15fs					TMCO2_ENST00000468258.1_Intron	p.S15fs	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	136_137	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	15						Frame_Shift_Del	DEL	ENST00000372766.3	37	c.43_44delTC	CCDS30684.1																																																																																				0.406	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		10	1321						10	1321	---	---	---	---
CLCA4	22802	broad.mit.edu	37	1	87029432	87029432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:87029432delA	ENST00000370563.3	+	4	579	c.537delA	c.(535-537)tcafs	p.S179fs	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	179	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GTGCTAAGTCAAAAAAAATCG	0.403																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(535-537)tcfs		chloride channel accessory 4							85.0	82.0	83.0					1																	87029432		1906	4147	6053	SO:0001589	frameshift_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87029432delA	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.537delA	1.37:g.87029432delA	ENSP00000359594:p.Ser179fs					CLCA4_ENST00000263723.5_5'UTR	p.S179fs	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	4	579	+		Lung NSC(277;0.238)	179					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Frame_Shift_Del	DEL	ENST00000370563.3	37	c.537delA	CCDS41355.1																																																																																				0.403	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		7	334						7	334	---	---	---	---
SLC44A3	126969	broad.mit.edu	37	1	95357932	95357932	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:95357932delT	ENST00000271227.6	+	14	1818	c.1716delT	c.(1714-1716)gctfs	p.A572fs	SLC44A3_ENST00000532427.1_Frame_Shift_Del_p.A492fs|SLC44A3_ENST00000446120.2_Frame_Shift_Del_p.A536fs|SLC44A3_ENST00000529450.1_Frame_Shift_Del_p.A539fs|SLC44A3_ENST00000467909.1_Frame_Shift_Del_p.A524fs|SLC44A3_ENST00000527077.1_Frame_Shift_Del_p.A504fs	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	572					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F526fs*4(1)|p.A575fs*7(1)|p.A527fs*7(1)|p.F574fs*4(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TATTGGTAGCTTTTTTTGCCT	0.423																																						ENST00000271227.6																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.F526fs*4(1)|p.A575fs*7(1)|p.A527fs*7(1)|p.F574fs*4(1)	large_intestine(4)	breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1714-1716)gcfs		solute carrier family 44, member 3	Choline(DB00122)						291.0	283.0	286.0					1																	95357932		2203	4300	6503	SO:0001589	frameshift_variant	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95357932delT	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1716delT	1.37:g.95357932delT	ENSP00000271227:p.Ala572fs					SLC44A3_ENST00000467909.1_Frame_Shift_Del_p.A524fs|SLC44A3_ENST00000446120.2_Frame_Shift_Del_p.A536fs|SLC44A3_ENST00000532427.1_Frame_Shift_Del_p.A492fs|SLC44A3_ENST00000529450.1_Frame_Shift_Del_p.A539fs|SLC44A3_ENST00000527077.1_Frame_Shift_Del_p.A504fs	p.A572fs	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	14	1818	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	572					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Frame_Shift_Del	DEL	ENST00000271227.6	37	c.1716delT	CCDS44176.1																																																																																				0.423	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		7	985						7	985	---	---	---	---
FNDC7	163479	broad.mit.edu	37	1	109276138	109276138	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:109276138delA	ENST00000370017.3	+	10	2401	c.2124delA	c.(2122-2124)ccafs	p.P708fs	RP11-293A10.3_ENST00000437400.2_RNA|FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	708	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.I478fs*4(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTTCTGTCCAAAAAAAATAT	0.363																																						ENST00000370017.3																			1	Deletion - Frameshift(1)	p.I478fs*4(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(2122-2124)ccfs		fibronectin type III domain containing 7							65.0	66.0	66.0					1																	109276138		2203	4300	6503	SO:0001589	frameshift_variant	163479					extracellular region		g.chr1:109276138delA		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2124delA	1.37:g.109276138delA	ENSP00000359034:p.Pro708fs					FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	p.P708fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	10	2401	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	709			Fibronectin type-III 8.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Frame_Shift_Del	DEL	ENST00000370017.3	37	c.2124delA	CCDS44185.1																																																																																				0.363	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		7	423						7	423	---	---	---	---
NGF	4803	broad.mit.edu	37	1	115828721	115828722	+	Frame_Shift_Del	DEL	CA	CA	-	rs142696332		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:115828721_115828722delCA	ENST00000369512.2	-	3	863_864	c.695_696delTG	c.(694-696)gtgfs	p.V232fs	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	232					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCCTGCTGAGCACACACACACA	0.579																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(694-696)gfs		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)																																			SO:0001589	frameshift_variant	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828721_115828722delCA		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.695_696delTG	1.37:g.115828731_115828732delCA	ENSP00000358525:p.Val232fs					RP4-663N10.1_ENST00000425449.1_RNA	p.V232fs	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	863_864	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	232					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Frame_Shift_Del	DEL	ENST00000369512.2	37	c.695_696delTG	CCDS882.1																																																																																				0.579	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		7	432						7	432	---	---	---	---
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	lincRNA	DEL	AT	AT	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262																																						ENST00000428624.1																			0																																																			0							g.chr1:143391923_143391924delAT																													1.37:g.143391933_143391934delAT						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	DEL	ENST00000428624.1	37																																																																																						0.262	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			7	146						7	146	---	---	---	---
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-	rs587765256		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E	POLR3GL_ENST00000369313.3_In_Frame_Del_p.150_151EE>E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.				gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448																																						ENST00000369314.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(517-522)gag>ga		polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like																																				SO:0001651	inframe_deletion	84265							g.chr1:145457040_145457042delTCT	BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.519_521delAGA	1.37:g.145457049_145457051delTCT	ENSP00000358320:p.Glu174del					POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del	p.EE173del	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN			7	625_627	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		173			Glu-rich.		B1MVG5	In_Frame_Del	DEL	ENST00000369314.1	37	c.519_521delAGA	CCDS914.1																																																																																				0.448	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1	NM_032305		7	167						7	167	---	---	---	---
S100A8	6279	broad.mit.edu	37	1	153362715	153362715	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:153362715delT	ENST00000368733.3	-	3	315	c.146delA	c.(145-147)aagfs	p.K49fs	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Frame_Shift_Del_p.K49fs	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	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)			GTCTGCACCCTTTTTCTGTCA	0.507																																						ENST00000368733.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(145-147)agfs		S100 calcium binding protein A8							115.0	115.0	115.0					1																	153362715		2203	4300	6503	SO:0001589	frameshift_variant	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362715delT	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.146delA	1.37:g.153362715delT	ENSP00000357722:p.Lys49fs					S100A8_ENST00000368732.1_Frame_Shift_Del_p.K49fs|S100A8_ENST00000477801.1_5'UTR	p.K49fs	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	315	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		49			EF-hand 2.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Frame_Shift_Del	DEL	ENST00000368733.3	37	c.146delA	CCDS1038.1																																																																																				0.507	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		7	1076						7	1076	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				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)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	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.chr1:154245864_154245866delGAA	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.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		11	381						11	381	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155448996	155448996	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:155448996delT	ENST00000368346.3	-	3	4304	c.3665delA	c.(3664-3666)aagfs	p.K1222fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.K1222fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1222					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGCCTCCTCTTTTTTTGCCC	0.413																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3664-3666)agfs		ash1 (absent, small, or homeotic)-like (Drosophila)							159.0	166.0	164.0					1																	155448996		2203	4300	6503	SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448996delT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3665delA	1.37:g.155448996delT	ENSP00000357330:p.Lys1222fs					ASH1L_ENST00000392403.3_Frame_Shift_Del_p.K1222fs	p.K1222fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4304	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1222					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	ENST00000368346.3	37	c.3665delA																																																																																					0.413	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		8	1060						8	1060	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(901-903)del		nitric oxide synthase 1 (neuronal) adaptor protein																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	p.Q306del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1303_1305	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		9	431						9	431	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000367893.4_In_Frame_Del_p.261_262QQ>Q|LMX1A_ENST00000294816.2_In_Frame_Del_p.261_262QQ>Q|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(781-786)caa>ca		LIM homeobox transcription factor 1, alpha																																				SO:0001651	inframe_deletion	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177332_165177334delTGC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.783_785delGCA	1.37:g.165177341_165177343delTGC	ENSP00000340226:p.Gln262del					LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del	p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1165_1167	-	all_hematologic(923;0.248)		261			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	In_Frame_Del	DEL	ENST00000342310.3	37	c.783_785delGCA	CCDS1247.1																																																																																				0.567	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		8	168						8	168	---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr1:167385016_167385018delCCA	ENST00000541643.3	+	17	2363_2365	c.2201_2203delCCA	c.(2200-2205)tccacc>tcc	p.T738del	POU2F1_ENST00000367862.5_In_Frame_Del_p.T750del|POU2F1_ENST00000367866.2_In_Frame_Del_p.T761del|POU2F1_ENST00000429375.2_In_Frame_Del_p.T698del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	738					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2236-2241)tcc>t		POU class 2 homeobox 1																																				SO:0001651	inframe_deletion	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167385016_167385018delCCA	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2201_2203delCCA	1.37:g.167385025_167385027delCCA	ENSP00000441285:p.Thr738del					POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000367865.1_3'UTR	p.ST746del	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			16	2472_2474	+			734					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	In_Frame_Del	DEL	ENST00000541643.3	37	c.2237_2239delCCA																																																																																					0.601	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		7	1114						7	1114	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)atafs	p.I410fs	SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	410					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1228-1230)tafs		structural maintenance of chromosomes 6							82.0	78.0	80.0					2																	17898126		2203	4297	6500	SO:0001589	frameshift_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17898126delT	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1228delA	2.37:g.17898126delT	ENSP00000404092:p.Ile410fs					SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs	p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			14	1497	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		410					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Frame_Shift_Del	DEL	ENST00000448223.2	37	c.1228delA	CCDS1690.1																																																																																				0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		8	310						8	310	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(349-354)agt>ag		additional sex combs like 2 (Drosophila)																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del					ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR	p.SS117del			Q76L83	ASXL2_HUMAN			5	644_646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		7	865						7	865	---	---	---	---
GPR113	165082	broad.mit.edu	37	2	26534413	26534413	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:26534413delC	ENST00000311519.1	-	11	2182	c.2183delG	c.(2182-2184)ggtfs	p.G728fs	GPR113_ENST00000541401.1_Frame_Shift_Del_p.G331fs|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Frame_Shift_Del_p.G659fs|GPR113_ENST00000333478.6_Frame_Shift_Del_p.G529fs	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	728	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G529fs*46(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGGACCAACCCCCCCTGCC	0.612																																						ENST00000333478.6																			1	Deletion - Frameshift(1)	p.G529fs*46(1)	large_intestine(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1585-1587)gtfs		G protein-coupled receptor 113							72.0	79.0	77.0					2																	26534413		2203	4300	6503	SO:0001589	frameshift_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26534413delC	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2183delG	2.37:g.26534413delC	ENSP00000307831:p.Gly728fs					GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Frame_Shift_Del_p.G331fs|GPR113_ENST00000311519.1_Frame_Shift_Del_p.G728fs|GPR113_ENST00000421160.2_Frame_Shift_Del_p.G659fs	p.G529fs	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			8	2168	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		728					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Frame_Shift_Del	DEL	ENST00000311519.1	37	c.1586delG	CCDS46239.1																																																																																				0.612	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		7	397						7	397	---	---	---	---
BRE	9577	broad.mit.edu	37	2	28521301	28521301	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:28521301delA	ENST00000342045.2	+	12	1172	c.1031delA	c.(1030-1032)caafs	p.Q344fs	BRE_ENST00000344773.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCCCAGGCCCAAAAAAATTAT	0.448																																						ENST00000344773.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(1030-1032)cafs		brain and reproductive organ-expressed (TNFRSF1A modulator)							132.0	134.0	133.0					2																	28521301		2203	4300	6503	SO:0001589	frameshift_variant	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28521301delA	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.1031delA	2.37:g.28521301delA	ENSP00000339371:p.Gln344fs					BRE_ENST00000342045.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs	p.Q344fs	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			11	1169	+	Acute lymphoblastic leukemia(172;0.155)		344			UEV-like 2.			Frame_Shift_Del	DEL	ENST00000342045.2	37	c.1031delA	CCDS1763.1																																																																																				0.448	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			7	1055						7	1055	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1477-1482)gaa>ga		chromosome 2 open reading frame 71																																				SO:0001651	inframe_deletion	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295647_29295649delTCC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1479_1481delGGA	2.37:g.29295656_29295658delTCC	ENSP00000332809:p.Glu494del						p.EE493del	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1478_1480	-			493						In_Frame_Del	DEL	ENST00000331664.5	37	c.1479_1481delGGA	CCDS42669.1																																																																																				0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		8	789						8	789	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-	rs199521315|rs372484063|rs199910361	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		7	552						7	552	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)agtfs	p.S1242fs	SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(3724-3726)gtfs		son of sevenless homolog 1 (Drosophila)							134.0	134.0	134.0					2																	39213243		2203	4300	6503	SO:0001589	frameshift_variant	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39213243delT	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3724delA	2.37:g.39213243delT	ENSP00000387784:p.Ser1242fs					SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs	p.S1242fs			Q07889	SOS1_HUMAN			24	3810	-		all_hematologic(82;0.21)	1242					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3724delA	CCDS1802.1																																																																																				0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		7	604						7	604	---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		7	1035						7	1035	---	---	---	---
SMYD5	10322	broad.mit.edu	37	2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:73453009_73453011delGAG	ENST00000389501.4	+	13	1237_1239	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	403	Glu-rich.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562																																						ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1192-1194)del		SMYD family member 5																																				SO:0001651	inframe_deletion	10322						metal ion binding	g.chr2:73453009_73453011delGAG	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1192_1194delGAG	2.37:g.73453018_73453020delGAG	ENSP00000374152:p.Glu403del						p.E403del	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			13	1237_1239	+			403			Glu-rich.		D6W5H3|Q13558	In_Frame_Del	DEL	ENST00000389501.4	37	c.1192_1194delGAG	CCDS33221.2																																																																																				0.562	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		7	570						7	570	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133541083	133541084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:133541083_133541084insG	ENST00000409261.1	-	14	3673_3674	c.3300_3301insC	c.(3298-3303)cccaagfs	p.K1101fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.K1101fs|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1101	Ser-rich.									NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGGAAGGCTTGGGGGGTGTGG	0.505																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3298-3303)ccagccfs		NCK-associated protein 5																																				SO:0001589	frameshift_variant	344148						protein binding	g.chr2:133541083_133541084insG	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3301dupC	2.37:g.133541089_133541089dupG	ENSP00000387128:p.Lys1101fs					NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.A1101fs	p.A1101fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3673_3674	-			1101			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Ins	INS	ENST00000409261.1	37	c.3300_3301insC	CCDS46418.1																																																																																				0.505	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		7	1771						7	1771	---	---	---	---
SSB	6741	broad.mit.edu	37	2	170665008	170665008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:170665008delA	ENST00000409333.1	+	7	818	c.571delA	c.(571-573)aaafs	p.K192fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	192					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTACTTTGCCAAAAAAAATGA	0.323																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(571-573)aafs		Sjogren syndrome antigen B (autoantigen La)							82.0	82.0	82.0					2																	170665008		2203	4300	6503	SO:0001589	frameshift_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170665008delA		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.571delA	2.37:g.170665008delA	ENSP00000386636:p.Lys192fs					SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs	p.K192fs			P05455	LA_HUMAN			7	818	+			192					Q15367|Q53XJ4	Frame_Shift_Del	DEL	ENST00000409333.1	37	c.571delA	CCDS2237.1																																																																																				0.323	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		7	278						7	278	---	---	---	---
RAPH1	65059	broad.mit.edu	37	2	204322298	204322298	+	Frame_Shift_Del	DEL	T	T	-	rs2469953	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:204322298delT	ENST00000319170.5	-	8	1412	c.1113delA	c.(1111-1113)aaafs	p.K371fs	RAPH1_ENST00000418114.1_Frame_Shift_Del_p.K371fs|RAPH1_ENST00000453034.1_Frame_Shift_Del_p.K423fs|RAPH1_ENST00000374488.2_Frame_Shift_Del_p.K396fs|RAPH1_ENST00000374489.2_Frame_Shift_Del_p.K398fs|RAPH1_ENST00000439222.1_Frame_Shift_Del_p.K396fs|RAPH1_ENST00000457812.1_Frame_Shift_Del_p.K371fs|RAPH1_ENST00000419464.1_Frame_Shift_Del_p.K371fs|RAPH1_ENST00000423104.1_Frame_Shift_Del_p.K398fs|RAPH1_ENST00000308091.4_Frame_Shift_Del_p.K423fs|RAPH1_ENST00000374493.3_Frame_Shift_Del_p.K423fs	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	371					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGCTGTTTCTTTTTTCCCCA	0.373																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1111-1113)aafs		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							161.0	171.0	167.0					2																	204322298		2203	4300	6503	SO:0001589	frameshift_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204322298delT	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1113delA	2.37:g.204322298delT	ENSP00000316543:p.Lys371fs					RAPH1_ENST00000374488.2_Frame_Shift_Del_p.K396fs|RAPH1_ENST00000374493.3_Frame_Shift_Del_p.K423fs|RAPH1_ENST00000308091.4_Frame_Shift_Del_p.K423fs|RAPH1_ENST00000457812.1_Frame_Shift_Del_p.K371fs|RAPH1_ENST00000453034.1_Frame_Shift_Del_p.K423fs|RAPH1_ENST00000423104.1_Frame_Shift_Del_p.K398fs|RAPH1_ENST00000374489.2_Frame_Shift_Del_p.K398fs|RAPH1_ENST00000419464.1_Frame_Shift_Del_p.K371fs|RAPH1_ENST00000418114.1_Frame_Shift_Del_p.K371fs|RAPH1_ENST00000439222.1_Frame_Shift_Del_p.K396fs	p.K371fs	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			8	1412	-			371					Q96Q37|Q9C0I2	Frame_Shift_Del	DEL	ENST00000319170.5	37	c.1113delA	CCDS2359.1																																																																																				0.373	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		7	919						7	919	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gctfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(589-591)gcfs		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							305.0	318.0	314.0					2																	219252307		2203	4300	6503	SO:0001589	frameshift_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219252307delT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.591delT	2.37:g.219252307delT	ENSP00000233202:p.Ala197fs					SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	p.A197fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	931	+		Renal(207;0.0474)	197					C0H5Y3	Frame_Shift_Del	DEL	ENST00000233202.6	37	c.591delT	CCDS2415.1																																																																																				0.448	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		8	2616						8	2616	---	---	---	---
PCOLCE2	26577	broad.mit.edu	37	3	142548586	142548586	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:142548586delT	ENST00000295992.3	-	6	1119	c.813delA	c.(811-813)aaafs	p.K271fs	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	271					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTGTAGGCAGTTTTTTTGGCC	0.383																																						ENST00000295992.3																			0				NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(811-813)aafs		procollagen C-endopeptidase enhancer 2							165.0	155.0	158.0					3																	142548586		2203	4300	6503	SO:0001589	frameshift_variant	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142548586delT	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.813delA	3.37:g.142548586delT	ENSP00000295992:p.Lys271fs					PCOLCE2_ENST00000485766.1_Intron	p.K271fs	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN			6	1119	-			271					B2RCH9|D3DNG4|Q9BRH3	Frame_Shift_Del	DEL	ENST00000295992.3	37	c.813delA	CCDS3127.1																																																																																				0.383	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		9	980						9	980	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154042078	154042080	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:154042078_154042080delCCG	ENST00000496811.1	-	1	206_208	c.126_128delCGG	c.(124-129)ggcgga>gga	p.42_43GG>G	DHX36_ENST00000329463.5_In_Frame_Del_p.42_43GG>G|DHX36_ENST00000544526.1_In_Frame_Del_p.42_43GG>G|DHX36_ENST00000308361.6_In_Frame_Del_p.42_43GG>G	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	42	Gly-rich.|RNA-binding; sufficient and required for recruitment to cytoplasmic stress granules.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACCACCCCCTCCGCCGCCGCCGC	0.7																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(124-129)gga>gg		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001651	inframe_deletion	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154042078_154042080delCCG	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.126_128delCGG	3.37:g.154042087_154042089delCCG	ENSP00000417078:p.Gly46del					DHX36_ENST00000544526.1_In_Frame_Del_p.GG44del|DHX36_ENST00000308361.6_In_Frame_Del_p.GG44del|DHX36_ENST00000329463.5_In_Frame_Del_p.GG44del	p.GG44del	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	206_208	-			44			Gly-rich.		B2RB00|Q70JU3|Q8IYE5|Q9P240	In_Frame_Del	DEL	ENST00000496811.1	37	c.126_128delCGG	CCDS3171.1																																																																																				0.700	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		9	533						9	533	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	CTG	-	rs61743912|rs370119073	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:167747642_167747644delCTG	ENST00000470487.1	-	10	2046_2048	c.1357_1359delCAG	c.(1357-1359)cagdel	p.Q453del	GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	453	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.64																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1357-1359)del		golgi integral membrane protein 4																																				SO:0001651	inframe_deletion	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747642_167747644delCTG	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1357_1359delCAG	3.37:g.167747651_167747653delCTG	ENSP00000417354:p.Gln453del					GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	p.Q453del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			10	2046_2048	-			453			Gln-rich.|Glu-rich.			In_Frame_Del	DEL	ENST00000470487.1	37	c.1357_1359delCAG	CCDS3204.1																																																																																				0.640	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			7	322						7	322	---	---	---	---
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1.0	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		7	946						7	946	---	---	---	---
RNF168	165918	broad.mit.edu	37	3	196214338	196214338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr3:196214338delT	ENST00000318037.3	-	3	1084	c.490delA	c.(490-492)aggfs	p.R166fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	166	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTCTTCGCCTTTTTTCTGCC	0.448																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(490-492)ggfs		ring finger protein 168, E3 ubiquitin protein ligase							512.0	470.0	484.0					3																	196214338		2203	4300	6503	SO:0001589	frameshift_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196214338delT	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.490delA	3.37:g.196214338delT	ENSP00000320898:p.Arg166fs						p.R166fs	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	3	1084	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		166			Glu-rich.		Q8NA67|Q96NS4	Frame_Shift_Del	DEL	ENST00000318037.3	37	c.490delA	CCDS3317.1																																																																																				0.448	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		8	2335						8	2335	---	---	---	---
HGFAC	3083	broad.mit.edu	37	4	3443798	3443800	+	In_Frame_Del	DEL	CTG	CTG	-	rs372137428		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:3443798_3443800delCTG	ENST00000382774.3	+	1	185_187	c.70_72delCTG	c.(70-72)ctgdel	p.L29del	HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	29					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCCTCCTCCTGCTGCTGCTGC	0.714																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(70-72)del		HGF activator				1,155,2800		0,0,1,8,139,1330						2.2	1.0			15	2,247,5979		0,0,2,8,231,2873	no	codingComplex	HGFAC	NM_001528.2		0,0,3,16,370,4203	A1A1,A1A2,A1R,A2A2,A2R,RR		3.9981,5.2774,4.4098				3,402,8779				SO:0001651	inframe_deletion	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443798_3443800delCTG	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.70_72delCTG	4.37:g.3443807_3443809delCTG	ENSP00000372224:p.Leu29del					HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	185_187	+			29					Q14726|Q2M1W7|Q53X47	In_Frame_Del	DEL	ENST00000382774.3	37	c.70_72delCTG	CCDS3369.1																																																																																				0.714	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			10	138						10	138	---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69202891	69202893	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:69202891_69202893delTCC	ENST00000344157.4	-	4	1070_1072	c.735_737delGGA	c.(733-738)gaggaa>gaa	p.245_246EE>E	YTHDC1_ENST00000579690.1_In_Frame_Del_p.245_246EE>E|YTHDC1_ENST00000355665.3_In_Frame_Del_p.245_246EE>E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	245	Glu-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E245E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ttcttcttcttcctcctcctcct	0.473																																						ENST00000344157.4																			1	Substitution - coding silent(1)	p.E245E(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(733-738)gaa>ga		YTH domain containing 1																																				SO:0001651	inframe_deletion	91746							g.chr4:69202891_69202893delTCC	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.735_737delGGA	4.37:g.69202900_69202902delTCC	ENSP00000339245:p.Glu249del					YTHDC1_ENST00000579690.1_In_Frame_Del_p.EE247del|YTHDC1_ENST00000355665.3_In_Frame_Del_p.EE247del	p.EE247del	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			4	1070_1072	-			247			Glu-rich.		Q4W5Q3|Q7Z622|Q8TF35	In_Frame_Del	DEL	ENST00000344157.4	37	c.735_737delGGA	CCDS33992.1																																																																																				0.473	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		9	310						9	310	---	---	---	---
AFM	173	broad.mit.edu	37	4	74347532	74347532	+	Frame_Shift_Del	DEL	T	T	-	rs145217978	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:74347532delT	ENST00000226355.3	+	1	133	c.40delT	c.(40-42)tttfs	p.F15fs		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	15					vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTTTCTTGTTTTTTTTGAC	0.313																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(40-42)ttfs		afamin							41.0	44.0	43.0					4																	74347532		2193	4282	6475	SO:0001589	frameshift_variant	173				vitamin transport		vitamin E binding	g.chr4:74347532delT	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.40delT	4.37:g.74347532delT	ENSP00000226355:p.Phe15fs						p.F15fs	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	133	+	Breast(15;0.00102)		15					A8K3E1|Q32MR3|Q4W5C5	Frame_Shift_Del	DEL	ENST00000226355.3	37	c.40delT	CCDS3557.1																																																																																				0.313	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			7	355						7	355	---	---	---	---
INTU	27152	broad.mit.edu	37	4	128564917	128564917	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:128564917delA	ENST00000335251.6	+	2	491	c.388delA	c.(388-390)aaafs	p.K131fs	INTU_ENST00000296461.5_Frame_Shift_Del_p.K131fs	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	131					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GCGCTGCAATAAAAAAAATAG	0.358																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(388-390)aafs		inturned planar cell polarity protein							63.0	66.0	65.0					4																	128564917		2203	4300	6503	SO:0001589	frameshift_variant	27152							g.chr4:128564917delA	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.388delA	4.37:g.128564917delA	ENSP00000334003:p.Lys131fs					INTU_ENST00000296461.5_Frame_Shift_Del_p.K131fs	p.K131fs	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			2	491	+			131					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Frame_Shift_Del	DEL	ENST00000335251.6	37	c.388delA	CCDS34061.1																																																																																				0.358	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		9	529						9	529	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs58015886|rs370122702		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)cagcagcaa>caa	p.507_509QQQ>Q	MAML3_ENST00000327122.5_In_Frame_Del_p.351_353QQQ>Q|MAML3_ENST00000398940.1_Splice_Site_p.A37del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1519-1527)caa>ca		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811064_140811069delTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1521_1526delGCAGCA	4.37:g.140811070_140811075delTGCTGC	ENSP00000421180:p.Gln509_Gln510del					MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del	p.QQQ507del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2377_2382	-	all_hematologic(180;0.162)		506			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1521_1526delGCAGCA	CCDS54805.1																																																																																				0.515	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			44	503						44	503	---	---	---	---
CLGN	1047	broad.mit.edu	37	4	141313402	141313402	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:141313402delT	ENST00000325617.5	-	13	2062	c.1622delA	c.(1621-1623)aagfs	p.K541fs	CLGN_ENST00000537281.1_Frame_Shift_Del_p.K541fs|CLGN_ENST00000414773.1_Frame_Shift_Del_p.K541fs	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	541					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ATCATTTTGCTTTTTTTCCTC	0.378																																						ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1621-1623)agfs		calmegin							244.0	247.0	246.0					4																	141313402		2203	4300	6503	SO:0001589	frameshift_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141313402delT	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1622delA	4.37:g.141313402delT	ENSP00000326699:p.Lys541fs					CLGN_ENST00000414773.1_Frame_Shift_Del_p.K541fs|CLGN_ENST00000537281.1_Frame_Shift_Del_p.K541fs	p.K541fs	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			13	2062	-	all_hematologic(180;0.162)		541					B3KS90|B4DXV8|D3DNY8	Frame_Shift_Del	DEL	ENST00000325617.5	37	c.1622delA	CCDS3751.1																																																																																				0.378	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		8	1578						8	1578	---	---	---	---
CEP44	80817	broad.mit.edu	37	4	175224891	175224892	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr4:175224891_175224892insA	ENST00000503780.1	+	5	689_690	c.275_276insA	c.(274-279)acaaaafs	p.TK92fs	CEP44_ENST00000296519.4_Frame_Shift_Ins_p.TK92fs|CEP44_ENST00000457424.2_Frame_Shift_Ins_p.TK92fs|CEP44_ENST00000426172.1_Frame_Shift_Ins_p.TK92fs	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	92						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						CCAATTTTGACAAAAAAGCAGT	0.312																																						ENST00000503780.1																			0				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						c.(274-276)aaafs		centrosomal protein 44kDa																																				SO:0001589	frameshift_variant	80817					centrosome|midbody|spindle pole		g.chr4:175224891_175224892insA	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.281dupA	4.37:g.175224897_175224897dupA	ENSP00000423153:p.Thr92fs					CEP44_ENST00000426172.1_Frame_Shift_Ins_p.K92fs|CEP44_ENST00000457424.2_Frame_Shift_Ins_p.K92fs|CEP44_ENST00000296519.4_Frame_Shift_Ins_p.K92fs	p.K92fs	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN			5	689_690	+			92					A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Frame_Shift_Ins	INS	ENST00000503780.1	37	c.275_276insA	CCDS34106.1																																																																																				0.312	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633		33	261						33	261	---	---	---	---
BRD9	65980	broad.mit.edu	37	5	889776	889777	+	Intron	INS	-	-	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr5:889776_889777insA	ENST00000467963.1	-	4	567				BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000483173.1_Intron|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.F13fs|BRD9_ENST00000323510.4_Frame_Shift_Ins_p.F13fs|TRIP13_ENST00000166345.3_5'Flank|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.F13fs	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACAATTTAAGGAAAAAAAAATT	0.446																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(37-39)tctfs		bromodomain containing 9			,	2,4262		0,2,2130					,	-1.5	0.0			96	1,8253		0,1,4126	no	intron,intron	BRD9	NM_023924.4,NM_001009877.2	,	0,3,6256	A1A1,A1R,RR		0.0121,0.0469,0.024	,	,		3,12515				SO:0001627	intron_variant	65980						nucleic acid binding	g.chr5:889776_889777insA	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.401-14->T	5.37:g.889785_889785dupA						BRD9_ENST00000483173.1_Intron|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs	p.S13fs			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		1	37_38	-			0					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Frame_Shift_Ins	INS	ENST00000467963.1	37	c.38_39insT	CCDS34127.2																																																																																				0.446	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		7	437						7	437	---	---	---	---
DIMT1	27292	broad.mit.edu	37	5	61688028	61688029	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr5:61688028_61688029insT	ENST00000199320.4	-	10	921_922	c.761_762insA	c.(760-762)aacfs	p.N254fs	DIMT1_ENST00000506390.1_Frame_Shift_Ins_p.N254fs|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	254						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										GAATTCTGTAGTTTTTTTCCAA	0.297																																						ENST00000199320.4																			0											c.(760-762)atafs		DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	27292					nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr5:61688028_61688029insT	AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.762dupA	5.37:g.61688035_61688035dupT	ENSP00000199320:p.Asn254fs					KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Frame_Shift_Ins_p.I254fs	p.I254fs	NM_014473.2	NP_055288.1	Q9UNQ2	DIMT1_HUMAN			10	921_922	-			254					O76025|Q9BU77|Q9UES1	Frame_Shift_Ins	INS	ENST00000199320.4	37	c.761_762insA	CCDS3981.1																																																																																				0.297	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		7	616						7	616	---	---	---	---
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.D577del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			8	1334						8	1334	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130815369	130815369	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr5:130815369delT	ENST00000509018.1	-	16	2123	c.1918delA	c.(1918-1920)agtfs	p.S640fs	RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.S355fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.S640fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Del_p.S640fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.S640fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.S640fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.S640fs|CTC-432M15.3_ENST00000514667.1_Frame_Shift_Del_p.S690fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	640					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGGCGATTACTTTTTTTTTCA	0.368																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1918-1920)gtfs		Rap guanine nucleotide exchange factor (GEF) 6							156.0	151.0	153.0					5																	130815369		2203	4300	6503	SO:0001589	frameshift_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130815369delT	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1918delA	5.37:g.130815369delT	ENSP00000421684:p.Ser640fs					RAPGEF6_ENST00000510071.1_Frame_Shift_Del_p.S640fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.S640fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.S355fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.S640fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.S640fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.S640fs|FNIP1_ENST00000514667.1_Frame_Shift_Del_p.S690fs	p.S640fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	16	2123	-			640					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Frame_Shift_Del	DEL	ENST00000509018.1	37	c.1918delA	CCDS34225.1																																																																																				0.368	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		7	726						7	726	---	---	---	---
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.46																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(268-270)gfs		IK cytokine, down-regulator of HLA II																																				SO:0001589	frameshift_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032593_140032594delGA	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.268_269delGA	5.37:g.140032603_140032604delGA	ENSP00000396301:p.Glu90fs					IK_ENST00000523672.1_3'UTR	p.E90fs	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	407_408	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	90					Q6IPD8	Frame_Shift_Del	DEL	ENST00000417647.2	37	c.268_269delGA	CCDS47280.1																																																																																				0.460	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		7	232						7	232	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2437-2442)ggg>gg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216457_149216459delGGA	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del					PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del	p.GE813del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2471_2473	+			813			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2439_2441delGGA	CCDS4298.1																																																																																				0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		9	495						9	495	---	---	---	---
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Intron	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr5:172578611delT	ENST00000351486.5	+	3	208				BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000231668.9_Frame_Shift_Del_p.F76fs	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(220-222)ttfs		BCL2/adenovirus E1B 19kDa interacting protein 1			,,,	16,4248		4,8,2120	126.0	120.0	122.0		,,,	-3.2	0.0	5		123	29,8225		6,17,4104	no	frameshift,frameshift,intron,intron	BNIP1	NM_013980.2,NM_013979.2,NM_013978.2,NM_001205.2	,,,	10,25,6224	A1A1,A1R,RR		0.3513,0.3752,0.3595	,,,	,,,	172578611	45,12473	2203	4300	6503	SO:0001627	intron_variant	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172578611delT	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.178-2714T>-	5.37:g.172578611delT						BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Intron	p.F76fs	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		3	324	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	59					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Frame_Shift_Del	DEL	ENST00000351486.5	37	c.220delT	CCDS4384.1																																																																																				0.348	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		11	504						11	504	---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7229287	7229288	+	Frame_Shift_Ins	INS	-	-	ACAC	rs562969847		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:7229287_7229288insACAC	ENST00000349384.6	+	10	1269_1270	c.955_956insACAC	c.(955-957)gacfs	p.-320fs	RREB1_ENST00000334984.6_Frame_Shift_Ins_p.-320fs|RREB1_ENST00000379933.3_Frame_Shift_Ins_p.-320fs|RREB1_ENST00000379938.2_Frame_Shift_Ins_p.-320fs	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TTTTGTCTGCGACACCTGTGAC	0.574																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(955-957)cacfs		ras responsive element binding protein 1																																				SO:0001589	frameshift_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229287_7229288insACAC	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.956_959dupACAC	6.37:g.7229288_7229291dupACAC	ENSP00000305560:p.Thr320fs					RREB1_ENST00000349384.6_Frame_Shift_Ins_p.H319fs|RREB1_ENST00000334984.6_Frame_Shift_Ins_p.H319fs|RREB1_ENST00000379933.3_Frame_Shift_Ins_p.H319fs	p.H319fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	1492_1493	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	319					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Frame_Shift_Ins	INS	ENST00000349384.6	37	c.955_956insACAC	CCDS34336.1																																																																																				0.574	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			18	157						18	157	---	---	---	---
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		7	414						7	414	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGCCAGCCTCCCTCCTCCTCCTC	0.586																																						ENST00000466808.2																			0																	383,304,2,3575		10,8,0,355,12,0,272,0,2,1473						0.4	0.0		dbSNP_134	150	684,576,1,6991		22,7,0,633,28,0,513,0,1,2922	no	intergenic				32,15,0,988,40,0,785,0,3,4395	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		15.2811,16.1585,15.5801				1067,880,3,10566						0							g.chr6:26422388_26422390delCCT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422397_26422399delCCT														0	42_44	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.586	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		11	585						11	585	---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27834859	27834859	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:27834859delT	ENST00000331442.3	-	1	500	c.449delA	c.(448-450)aagfs	p.K150fs		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	150					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.K150R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CTTCACTGCCTTTTTCGCCCC	0.622																																						ENST00000331442.3																			1	Substitution - Missense(1)	p.K150R(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(448-450)agfs		histone cluster 1, H1b							97.0	111.0	106.0					6																	27834859		2203	4299	6502	SO:0001589	frameshift_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834859delT	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.449delA	6.37:g.27834859delT	ENSP00000330074:p.Lys150fs						p.K150fs	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	500	-			150					Q14529|Q3MJ42	Frame_Shift_Del	DEL	ENST00000331442.3	37	c.449delA	CCDS4635.1																																																																																				0.622	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		7	1343						7	1343	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32063513	32063514	+	Frame_Shift_Del	DEL	AC	AC	-	rs144556766		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:32063513_32063514delAC	ENST00000479795.1	-	3	2256_2257	c.2116_2117delGT	c.(2116-2118)gtafs	p.V706fs	TNXB_ENST00000375247.2_Frame_Shift_Del_p.V706fs|TNXB_ENST00000375244.3_Frame_Shift_Del_p.V706fs			P22105	TENX_HUMAN	tenascin XB	706	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						GAAGCCCTCTACACACACACAC	0.668																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(2116-2118)afs		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.chr6:32063513_32063514delAC	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	ENST00000479795.1:c.2116_2117delGT	6.37:g.32063523_32063524delAC	ENSP00000418248:p.Val706fs					TNXB_ENST00000479795.1_Frame_Shift_Del_p.V706fs|TNXB_ENST00000375247.2_Frame_Shift_Del_p.V706fs	p.V706fs			P22105	TENX_HUMAN			3	2317_2318	-			706			EGF-like 18.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Del	DEL	ENST00000479795.1	37	c.2116_2117delGT																																																																																					0.668	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		8	163						8	163	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctctgc>ctc	p.C143del				Q99750	MDFI_HUMAN	MyoD family inhibitor	204					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(412-417)ctc>ct		MyoD family inhibitor																																				SO:0001651	inframe_deletion	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621169_41621171delCTG	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.414_416delCTG	6.37:g.41621178_41621180delCTG	ENSP00000362141:p.Cys143del						p.LC138del			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	601_603	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		199						In_Frame_Del	DEL	ENST00000373050.4	37	c.414_416delCTG																																																																																					0.655	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		12	843						12	843	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs|TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			11	283						11	283	---	---	---	---
RARS2	57038	broad.mit.edu	37	6	88229955	88229955	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:88229955delT	ENST00000369536.5	-	13	1100	c.1055delA	c.(1054-1056)aagfs	p.K352fs	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	352					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CTGAAAATGCTTTTTTTGTCC	0.333																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1054-1056)agfs		arginyl-tRNA synthetase 2, mitochondrial							197.0	188.0	191.0					6																	88229955		2203	4300	6503	SO:0001589	frameshift_variant	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88229955delT	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1055delA	6.37:g.88229955delT	ENSP00000358549:p.Lys352fs						p.K352fs	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	13	1100	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	352					B2RDT7|Q96FU5|Q9H8K8	Frame_Shift_Del	DEL	ENST00000369536.5	37	c.1055delA	CCDS5011.1																																																																																				0.333	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		7	1097						7	1097	---	---	---	---
PPIL6	285755	broad.mit.edu	37	6	109757309	109757309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:109757309delT	ENST00000521072.2	-	2	809	c.229delA	c.(229-231)aggfs	p.R77fs	AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs|PPIL6_ENST00000424445.2_Intron	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	77					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(229-231)ggfs		peptidylprolyl isomerase (cyclophilin)-like 6							112.0	120.0	117.0					6																	109757309		2203	4300	6503	SO:0001589	frameshift_variant	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109757309delT		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.229delA	6.37:g.109757309delT	ENSP00000427929:p.Arg77fs					PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs|PPIL6_ENST00000424445.2_Intron	p.R77fs	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	809	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	77					A9NIU0|A9NIU9|E7EX15	Frame_Shift_Del	DEL	ENST00000521072.2	37	c.229delA	CCDS5074.1																																																																																				0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			7	621						7	621	---	---	---	---
KIAA1919	91749	broad.mit.edu	37	6	111587361	111587361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:111587361delT	ENST00000368847.4	+	4	949	c.596delT	c.(595-597)attfs	p.I199fs		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	199					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GTTTCTGTCATTTTTTTTTGT	0.368																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(595-597)atfs		KIAA1919							70.0	67.0	68.0					6																	111587361		2203	4300	6503	SO:0001589	frameshift_variant	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587361delT	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.596delT	6.37:g.111587361delT	ENSP00000357840:p.Ile199fs						p.I199fs	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	949	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	199					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Frame_Shift_Del	DEL	ENST00000368847.4	37	c.596delT	CCDS5090.1																																																																																				0.368	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		8	255						8	255	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:146755399_146755401delCAG	ENST00000282753.1	+	8	3287_3289	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.Q1022del			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCTCCTCTCCAGCAGCAGCAGC	0.66																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3052-3054)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755399_146755401delCAG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3052_3054delCAG	6.37:g.146755408_146755410delCAG	ENSP00000282753:p.Gln1022del					GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR	p.Q1022del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3522_3524	+		Ovarian(120;0.0387)	1022			Gln/Pro-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3052_3054delCAG	CCDS5209.1																																																																																				0.660	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	664						7	664	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168317900	168317900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr6:168317900delT	ENST00000447894.2	+	19	2676	c.2676delT	c.(2674-2676)cctfs	p.P892fs	MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000366806.2_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	892	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTGATGAGCCTTTTATCCCAA	0.398			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2674-2676)ccfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							177.0	166.0	170.0					6																	168317900		2203	4300	6503	SO:0001589	frameshift_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168317900delT	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2676delT	6.37:g.168317900delT	ENSP00000404595:p.Pro892fs					MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.P892fs	p.P892fs			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	19	2818	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	892			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Frame_Shift_Del	DEL	ENST00000447894.2	37	c.2676delT																																																																																					0.398	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		8	860						8	860	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		18	160						18	160	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:2963941_2963943delGGA	ENST00000396946.4	-	15	2267_2269	c.1864_1866delTCC	c.(1864-1866)tccdel	p.S622del		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	622					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1864-1866)del		caspase recruitment domain family, member 11																																				SO:0001651	inframe_deletion	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2963941_2963943delGGA	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1864_1866delTCC	7.37:g.2963950_2963952delGGA	ENSP00000380150:p.Ser622del						p.S622del	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	15	2267_2269	-		Ovarian(82;0.0115)	622					A4D1Z7|Q2NKN7|Q548H3	In_Frame_Del	DEL	ENST00000396946.4	37	c.1864_1866delTCC	CCDS5336.2																																																																																				0.616	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		9	287						9	287	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:39379288_39379290delCAG	ENST00000403058.1	+	6	713_715	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000518318.2_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(559-561)del		POU class 6 homeobox 2																																				SO:0001651	inframe_deletion	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379288_39379290delCAG	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.559_561delCAG	7.37:g.39379297_39379299delCAG	ENSP00000384004:p.Gln196del					POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del	p.Q196del			P78424	PO6F2_HUMAN			5	601_603	+			196	Q -> QQ (in Ref. 1; AAB49727/AAB49728).		Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	In_Frame_Del	DEL	ENST00000403058.1	37	c.559_561delCAG	CCDS34620.2																																																																																				0.616	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		8	137						8	137	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48318519	48318519	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:48318519delA	ENST00000435803.1	+	18	7752	c.7728delA	c.(7726-7728)ttafs	p.L2576fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2576					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L2576F(3)|p.L2521F(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGCTACTTTAAAAAAAATAG	0.313																																						ENST00000435803.1																			5	Substitution - Missense(5)	p.L2576F(3)|p.L2521F(2)	prostate(5)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7726-7728)ttfs		ATP-binding cassette, sub-family A (ABC1), member 13							54.0	58.0	57.0					7																	48318519		1794	4039	5833	SO:0001589	frameshift_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318519delA	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7728delA	7.37:g.48318519delA	ENSP00000411096:p.Leu2576fs						p.L2576fs	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7752	+			2576					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Del	DEL	ENST00000435803.1	37	c.7728delA	CCDS47584.1																																																																																				0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		7	582						7	582	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75168684	75168684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:75168684delT	ENST00000336926.6	-	30	3046	c.3020delA	c.(3019-3021)aagfs	p.K1007fs	HIP1_ENST00000434438.2_Frame_Shift_Del_p.K956fs	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1007	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTCGTAGTGCTTTTTCCGAAG	0.507			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3019-3021)agfs		huntingtin interacting protein 1							303.0	294.0	297.0					7																	75168684		2203	4300	6503	SO:0001589	frameshift_variant	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75168684delT	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.3020delA	7.37:g.75168684delT	ENSP00000336747:p.Lys1007fs					HIP1_ENST00000434438.2_Frame_Shift_Del_p.K956fs	p.K1007fs	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			30	3046	-			1007			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Frame_Shift_Del	DEL	ENST00000336926.6	37	c.3020delA	CCDS34669.1																																																																																				0.507	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		7	2142						7	2142	---	---	---	---
WASL	8976	broad.mit.edu	37	7	123332873	123332875	+	In_Frame_Del	DEL	GGA	GGA	-	rs373297831		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:123332873_123332875delGGA	ENST00000223023.4	-	9	1205_1207	c.873_875delTCC	c.(871-876)cctccc>ccc	p.291_292PP>P		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	291	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gtgtggagggggaggaggaggag	0.567																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(871-876)ccc>cc		Wiskott-Aldrich syndrome-like				46,4176		1,44,2066						-10.8	0.0			50	62,8114		0,62,4026	no	coding	WASL	NM_003941.2		1,106,6092	A1A1,A1R,RR		0.7583,1.0895,0.8711				108,12290				SO:0001651	inframe_deletion	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332873_123332875delGGA	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.873_875delTCC	7.37:g.123332882_123332884delGGA	ENSP00000223023:p.Pro294del						p.PP293del	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1205_1207	-			293			Pro-rich.		A1JUI9|Q7Z746	In_Frame_Del	DEL	ENST00000223023.4	37	c.873_875delTCC	CCDS34743.1																																																																																				0.567	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		8	484						8	484	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		9	45						9	45	---	---	---	---
NEFL	4747	broad.mit.edu	37	8	24811843	24811843	+	RNA	DEL	A	A	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:24811843delA	ENST00000221169.5	-	0	1639				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAATAAAACAAAAAAAAAAT	0.328																																						ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide				13,77,3392		0,0,13,0,77,1651	83.0	77.0	79.0			-0.0	0.0	8		84	21,171,7606		1,0,19,1,169,3709	no	intron	NEFL	NM_006158.3		1,0,32,1,246,5360	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4622,2.5847,2.5			24811843	34,248,10998	1807	4067	5874			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24811843delA		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24811843delA										P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1639	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	DEL	ENST00000221169.5	37																																																																																						0.328	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		17	272						17	272	---	---	---	---
STAU2	27067	broad.mit.edu	37	8	74507471	74507471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:74507471delT	ENST00000521451.1	-	6	807	c.431delA	c.(430-432)aatfs	p.N144fs	STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000355780.5_Frame_Shift_Del_p.N332fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	364	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.N332fs*67(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTCTGCAGCATTTTTTTTGGC	0.328																																						ENST00000355780.5																			1	Deletion - Frameshift(1)	p.N332fs*67(1)	ovary(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(994-996)atfs		staufen double-stranded RNA binding protein 2							148.0	126.0	133.0					8																	74507471		2203	4298	6501	SO:0001589	frameshift_variant	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74507471delT	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.431delA	8.37:g.74507471delT	ENSP00000428476:p.Asn144fs					STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs	p.N332fs	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		10	1213	-	Breast(64;0.0138)		364			DRBM 4.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Frame_Shift_Del	DEL	ENST00000521451.1	37	c.995delA																																																																																					0.328	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		9	532						9	532	---	---	---	---
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386																																						ENST00000521433.1																			0																																																			0							g.chr8:89498121_89498122insA																													8.37:g.89498131_89498131dupA						RP11-586K2.1_ENST00000523254.1_RNA								0	179	+									RNA	INS	ENST00000521433.1	37																																																																																						0.386	RP11-586K2.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000375309.2			10	92						10	92	---	---	---	---
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	GAT	-	rs142964918|rs577569567		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr8:143310866_143310868delGAT	ENST00000307180.3	-	13	1636_1638	c.1519_1521delATC	c.(1519-1521)atcdel	p.I507del	TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000524325.1_In_Frame_Del_p.I506del	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	507	Poly-Ile.				intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(1516-1518)del		t-SNARE domain containing 1																																				SO:0001651	inframe_deletion	203062				vesicle-mediated transport	integral to membrane		g.chr8:143310866_143310868delGAT			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1519_1521delATC	8.37:g.143310875_143310877delGAT	ENSP00000303437:p.Ile507del					TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del	p.I506del			Q96NA8	TSNA1_HUMAN			13	1691_1693	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		507			Poly-Ile.		B7ZLB0|Q14D03	In_Frame_Del	DEL	ENST00000307180.3	37	c.1516_1518delATC	CCDS6384.1																																																																																				0.512	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		18	476						18	476	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20414278	20414280	+	In_Frame_Del	DEL	CTG	CTG	-	rs200928326		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:20414278_20414280delCTG	ENST00000380338.4	-	5	850_852	c.564_566delCAG	c.(562-567)agcagt>agt	p.188_189SS>S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.185_186SS>S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ACTGGTActactgctgctgctgc	0.507			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(562-567)agt>ag		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3				10,41,4213		0,0,10,0,41,2081						-0.5	1.0		dbSNP_104	91	34,58,8160		1,0,32,4,50,4039	no	codingComplex	MLLT3	NM_004529.2		1,0,42,4,91,6120	A1A1,A1A2,A1R,A2A2,A2R,RR		1.1149,1.1961,1.1425				44,99,12373				SO:0001651	inframe_deletion	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414278_20414280delCTG	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564_566delCAG	9.37:g.20414287_20414289delCTG	ENSP00000369695:p.Ser190del					MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.SS185del|MLLT3_ENST00000475957.1_5'UTR	p.SS188del	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	850_852	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	In_Frame_Del	DEL	ENST00000380338.4	37	c.564_566delCAG	CCDS6494.1																																																																																				0.507	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	881						8	881	---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115969556	115969556	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:115969556delT	ENST00000238256.3	-	3	307	c.190delA	c.(190-192)acafs	p.T64fs	FKBP15_ENST00000493847.1_5'UTR	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	64					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GCTGGTGCTGTTTTTGGTGTT	0.418																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(190-192)cafs		FK506 binding protein 15, 133kDa							333.0	353.0	347.0					9																	115969556		2103	4234	6337	SO:0001589	frameshift_variant	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115969556delT	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.190delA	9.37:g.115969556delT	ENSP00000238256:p.Thr64fs					FKBP15_ENST00000493847.1_5'UTR	p.T64fs	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			3	307	-			64					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Frame_Shift_Del	DEL	ENST00000238256.3	37	c.190delA	CCDS48007.1																																																																																				0.418	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		7	1475						7	1475	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		13	281						13	281	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:55587198_55587200delGGC	ENST00000320301.6	-	32	4714_4716	c.4320_4322delGCC	c.(4318-4323)ccgcct>cct	p.1440_1441PP>P	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_ENST00000395445.1_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395438.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000409834.1_In_Frame_Del_p.1051_1052PP>P|PCDH15_ENST00000437009.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_ENST00000414778.1_In_Frame_Del_p.1442_1443PP>P|PCDH15_ENST00000395432.2_In_Frame_Del_p.1400_1401PP>P|PCDH15_ENST00000373965.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4339-4344)cct>cc		protocadherin-related 15																																				SO:0001651	inframe_deletion	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587198_55587200delGGC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4320_4322delGCC	10.37:g.55587207_55587209delGGC	ENSP00000322604:p.Pro1443del	HNSCC(58;0.16)				PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron	p.PP1449del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4735_4737	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1442					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	c.4341_4343delGCC	CCDS7248.1																																																																																				0.571	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		9	525						9	525	---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:70156583delT	ENST00000602465.1	-	4	452	c.352delA	c.(352-354)atgfs	p.M118fs	RUFY2_ENST00000388768.2_Frame_Shift_Del_p.M153fs|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000472394.2_5'UTR			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(457-459)tgfs		RUN and FYVE domain containing 2							81.0	80.0	81.0					10																	70156583		1832	4087	5919	SO:0001589	frameshift_variant	55680					nucleus	metal ion binding	g.chr10:70156583delT	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.352delA	10.37:g.70156583delT	ENSP00000473462:p.Met118fs					RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs	p.M153fs	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			4	783	-			167			RUN.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Frame_Shift_Del	DEL	ENST00000602465.1	37	c.457delA																																																																																					0.398	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		16	351						16	351	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-	rs147413396		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gagfs	p.E321fs	CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(961-963)gfs		cell division cycle and apoptosis regulator 1																																				SO:0001589	frameshift_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70509285_70509286delGA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.961_962delGA	10.37:g.70509295_70509296delGA	ENSP00000265872:p.Glu321fs					CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs	p.E321fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			10	1080_1081	+			321			Arg-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Del	DEL	ENST00000265872.6	37	c.961_962delGA	CCDS7282.1																																																																																				0.391	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		11	284						11	284	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		11	809						11	809	---	---	---	---
ABCC2	1244	broad.mit.edu	37	10	101559000	101559000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:101559000delA	ENST00000370449.4	+	8	1017	c.904delA	c.(904-906)aaafs	p.K303fs		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	303					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GTCTGGGACCAAAAAAGATGT	0.403																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(904-906)aafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						195.0	213.0	207.0					10																	101559000		2203	4300	6503	SO:0001589	frameshift_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101559000delA	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.904delA	10.37:g.101559000delA	ENSP00000359478:p.Lys303fs						p.K303fs	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	1017	+		Colorectal(252;0.234)	303					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Del	DEL	ENST00000370449.4	37	c.904delA	CCDS7484.1																																																																																				0.403	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		11	1501						11	1501	---	---	---	---
DCLRE1A	9937	broad.mit.edu	37	10	115608957	115608957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr10:115608957delT	ENST00000361384.2	-	2	2824	c.1907delA	c.(1906-1908)aagfs	p.K636fs	DCLRE1A_ENST00000369305.1_Frame_Shift_Del_p.K636fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	636					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TCTACATCTCTTTTTTTGACG	0.368								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1906-1908)agfs	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							169.0	172.0	171.0					10																	115608957		2203	4300	6503	SO:0001589	frameshift_variant	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115608957delT		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1907delA	10.37:g.115608957delT	ENSP00000355185:p.Lys636fs					DCLRE1A_ENST00000369305.1_Frame_Shift_Del_p.K636fs	p.K636fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	2824	-			636					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Frame_Shift_Del	DEL	ENST00000361384.2	37	c.1907delA	CCDS7584.1																																																																																				0.368	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		7	1236						7	1236	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1819-1821)del		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2024_2026	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		8	786						8	786	---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.65																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(262-264)del		tetraspanin 4																																				SO:0001651	inframe_deletion	0				protein complex assembly	integral to plasma membrane		g.chr11:864443_864445delCTG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.262_264delCTG	11.37:g.864452_864454delCTG	ENSP00000380553:p.Leu92del					TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del	p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	521_523	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	In_Frame_Del	DEL	ENST00000397404.1	37	c.262_264delCTG	CCDS7721.1																																																																																				0.650	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			7	653						7	653	---	---	---	---
MUC15	143662	broad.mit.edu	37	11	26587426	26587427	+	5'UTR	INS	-	-	T	rs201956622		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:26587426_26587427insT	ENST00000455601.2	-	0	97_98				MUC15_ENST00000436318.2_Frame_Shift_Ins_p.P21fs|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Frame_Shift_Ins_p.P21fs|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000527569.1_Frame_Shift_Ins_p.P21fs|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Frame_Shift_Ins_p.P21fs|ANO3_ENST00000525139.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTTGGTATTGGTTTTTTTTTAA	0.287																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(58-63)aacaatfs		mucin 15, cell surface associated																																				SO:0001623	5_prime_UTR_variant	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26587426_26587427insT	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.-22->A	11.37:g.26587435_26587435dupT						MUC15_ENST00000281268.8_Frame_Shift_Ins_p.NN20fs|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Frame_Shift_Ins_p.NN20fs|MUC15_ENST00000455601.2_5'UTR|MUC15_ENST00000527569.1_Frame_Shift_Ins_p.NN20fs	p.NN20fs			Q8N387	MUC15_HUMAN			2	193_194	-			0					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Frame_Shift_Ins	INS	ENST00000455601.2	37	c.60_61insA	CCDS7859.1																																																																																				0.287	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		8	317						8	317	---	---	---	---
TRIM51HP	440041	broad.mit.edu	37	11	55065032	55065032	+	RNA	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:55065032delT	ENST00000526016.1	-	0	393					NR_038174.2				tripartite motif-containing 51H, pseudogene																		AAAGACTGCATTTTTTTTTAG	0.398																																						ENST00000526016.1																			0																																																			0							g.chr11:55065032delT			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065032delT								NR_038174.2						0	393	-									RNA	DEL	ENST00000526016.1	37																																																																																						0.398	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			8	308						8	308	---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	67018079	67018081	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:67018079_67018081delGAG	ENST00000529006.2	+	17	3024_3026	c.2578_2580delGAG	c.(2578-2580)gagdel	p.E866del	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	866					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ggaggaggaagaggaggaggagg	0.655																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2578-2580)del		lysine (K)-specific demethylase 2A																																				SO:0001651	inframe_deletion	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018079_67018081delGAG	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2578_2580delGAG	11.37:g.67018088_67018090delGAG	ENSP00000432786:p.Glu866del					KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron	p.E866del	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	3024_3026	+			866					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	In_Frame_Del	DEL	ENST00000529006.2	37	c.2578_2580delGAG	CCDS44657.1																																																																																				0.655	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		7	174						7	174	---	---	---	---
TAF1D	79101	broad.mit.edu	37	11	93471453	93471453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr11:93471453delT	ENST00000448108.2	-	3	931	c.281delA	c.(280-282)aagfs	p.K96fs	TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	96					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CCTCTTTTTCTTTTTTTTATA	0.348																																						ENST00000448108.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(280-282)agfs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							109.0	116.0	114.0					11																	93471453		2201	4298	6499	SO:0001589	frameshift_variant	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93471453delT		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.281delA	11.37:g.93471453delT	ENSP00000410409:p.Lys96fs						p.K96fs	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			3	931	-			96					Q6I9Y6	Frame_Shift_Del	DEL	ENST00000448108.2	37	c.281delA	CCDS8293.1																																																																																				0.348	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		7	952						7	952	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	416952	416953	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:416952_416953insT	ENST00000399788.2	-	23	3959_3960	c.3597_3598insA	c.(3595-3600)aaaggafs	p.G1200fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.G1200fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1200					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAGCTGGATCCTTTTTTTTGGG	0.475			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3595-3600)aagatcfs		lysine (K)-specific demethylase 5A																																				SO:0001589	frameshift_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416952_416953insT		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3598dupA	12.37:g.416960_416960dupT	ENSP00000382688:p.Gly1200fs					KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.I1200fs	p.I1200fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	3959_3960	-			1200					A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Ins	INS	ENST00000399788.2	37	c.3597_3598insA	CCDS41736.1																																																																																				0.475	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		14	710						14	710	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P|SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		10	454						10	454	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			7	1296						7	1296	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:55759486delT	ENST00000343399.3	+	1	592	c.592delT	c.(592-594)tttfs	p.F199fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393																																						ENST00000343399.3																			1	Deletion - Frameshift(1)	p.L200fs*1(1)	large_intestine(1)	endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(592-594)ttfs		olfactory receptor, family 6, subfamily C, member 75							154.0	133.0	140.0					12																	55759486		2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759486delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.592delT	12.37:g.55759486delT	ENSP00000368987:p.Phe199fs						p.F199fs	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	592	+			199						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.592delT	CCDS31820.1																																																																																				0.393	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			14	715						14	715	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88524078	88524079	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:88524078_88524079insT	ENST00000552810.1	-	9	978_979	c.635_636insA	c.(634-636)aacfs	p.N212fs	CEP290_ENST00000397838.3_5'Flank|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.N212fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	212					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAAGCTCATAGTTTTTTTTAGA	0.317																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(634-636)atafs		centrosomal protein 290kDa				0,3518		0,0,1759						2.2	1.0			194	1,7805		0,1,3902	no	frameshift	CEP290	NM_025114.3		0,1,5661	A1A1,A1R,RR		0.0128,0.0,0.0088				1,11323				SO:0001589	frameshift_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88524078_88524079insT	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.636dupA	12.37:g.88524086_88524086dupT	ENSP00000448012:p.Asn212fs					CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I212fs	p.I212fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			9	978_979	-			212					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Ins	INS	ENST00000552810.1	37	c.635_636insA	CCDS55858.1																																																																																				0.317	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		7	895						7	895	---	---	---	---
SYCP3	50511	broad.mit.edu	37	12	102122901	102122901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:102122901delT	ENST00000392927.3	-	8	774	c.643delA	c.(643-645)attfs	p.I215fs	SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	215	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCCATCATAATTTTTTTTTGC	0.259																																						ENST00000392927.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11	GRCh37	CD035010	SYCP3	D		c.(643-645)ttfs		synaptonemal complex protein 3			,,	9,54,4181		1,0,7,9,36,2069	53.0	55.0	54.0		,,	4.2	1.0	12		55	10,59,8149		0,0,10,17,25,4057	no	codingComplex,codingComplex,codingComplex	SYCP3	NM_153694.4,NM_001177949.1,NM_001177948.1	,,	1,0,17,26,61,6126	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8396,1.4844,1.0592	,,	,,	102122901	19,113,12330	2198	4284	6482	SO:0001589	frameshift_variant	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102122901delT	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.643delA	12.37:g.102122901delT	ENSP00000376658:p.Ile215fs					SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs	p.I215fs	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN			8	774	-			215			Gln-rich.			Frame_Shift_Del	DEL	ENST00000392927.3	37	c.643delA	CCDS9087.1																																																																																				0.259	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		9	272						9	272	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		11	351						11	351	---	---	---	---
WASF3	10810	broad.mit.edu	37	13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGATACTAGGTGTGTGTGTGT	0.475																																						ENST00000335327.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.e7+1		WAS protein family, member 3																																				SO:0001630	splice_region_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27250862_27250863delGT	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.716+1GT>-	13.37:g.27250872_27250873delGT						WASF3_ENST00000361042.4_Intron		NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	7	894	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)						O94974|Q86VQ2	Splice_Site	DEL	ENST00000335327.5	37		CCDS9318.1																																																																																				0.475	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		Intron	7	367						7	367	---	---	---	---
EEF1DP3	196549	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	GT	-	rs369428918		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:32527507_32527508delGT	ENST00000428783.1	+	0	1207_1208							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										TCTGGCCTGAGTGTGTGTGTGT	0.46																																						ENST00000428783.1																			0																																																			0							g.chr13:32527507_32527508delGT			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527517_32527518delGT														0	1207_1208	+								Q08AR3	RNA	DEL	ENST00000428783.1	37																																																																																						0.460	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		11	376						11	376	---	---	---	---
RFC3	5983	broad.mit.edu	37	13	34398062	34398063	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:34398062_34398063insA	ENST00000380071.3	+	3	364_365	c.234_235insA	c.(235-237)aaafs	p.K79fs	RFC3_ENST00000434425.1_Frame_Shift_Ins_p.K79fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	79					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|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)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AGACTCCATCTAAAAAAAAAAT	0.267																																						ENST00000380071.3																			0				lung(2)|skin(1)	3						c.(232-237)tcaaaafs		replication factor C (activator 1) 3, 38kDa																																				SO:0001589	frameshift_variant	5983				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr13:34398062_34398063insA		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"""ATPases / AAA-type"""	9971	protein-coding gene	gene with protein product	"""RFC, 38 kD subunit"", ""A1 38 kDa subunit"""	600405	"""replication factor C (activator 1) 3 (38kD)"""			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.244dupA	13.37:g.34398072_34398072dupA	ENSP00000369411:p.Lys79fs					RFC3_ENST00000434425.1_Frame_Shift_Ins_p.SK78fs	p.SK78fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)	3	364_365	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	78					C9JU95|O15252|Q5W0E8	Frame_Shift_Ins	INS	ENST00000380071.3	37	c.234_235insA	CCDS9352.1																																																																																				0.267	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		7	113						7	113	---	---	---	---
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr13:45580365_45580367delGAT	ENST00000379151.4	+	3	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	GPALPP1_ENST00000361121.2_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_De_novo_Start_InFrame	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	88	Poly-Asp.																Ggatgatgacgatgatgatgatg	0.335																																						ENST00000361121.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.(250-252)del						311,3953		154,3,1975						-7.1	0.0			182	654,7600		325,4,3798	no	coding	KIAA1704	NM_018559.2		479,7,5773	A1A1,A1R,RR		7.9234,7.2936,7.7089				965,11553				SO:0001651	inframe_deletion	0							g.chr13:45580365_45580367delGAT	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.250_252delGAT	13.37:g.45580374_45580376delGAT	ENSP00000368447:p.Asp88del					KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA	p.D88del			Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	285_287	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	88			Poly-Asp.		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	In_Frame_Del	DEL	ENST00000379151.4	37	c.250_252delGAT	CCDS9394.1																																																																																				0.335	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		12	1582						12	1582	---	---	---	---
ADAM21	8747	broad.mit.edu	37	14	70924869	70924871	+	In_Frame_Del	DEL	ATG	ATG	-	rs141326765		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr14:70924869_70924871delATG	ENST00000603540.1	+	2	911_913	c.653_655delATG	c.(652-657)catgat>cat	p.D219del	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_In_Frame_Del_p.D219del	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	219	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTGGTGAACCATGATTTCTTCAT	0.414																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(652-657)cat>c		ADAM metallopeptidase domain 21																																				SO:0001651	inframe_deletion	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924869_70924871delATG	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.653_655delATG	14.37:g.70924869_70924871delATG	ENSP00000474385:p.Asp219del					ADAM21_ENST00000267499.3_In_Frame_Del_p.HD218del|RP11-486O13.4_ENST00000556646.1_lincRNA	p.HD218del	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	911_913	+			218			Peptidase M12B.		O43507|Q2VPC6|Q32MR0	In_Frame_Del	DEL	ENST00000603540.1	37	c.653_655delATG	CCDS9804.1																																																																																				0.414	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			8	539						8	539	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1195-1197)afs		RNA binding motif protein 25																																				SO:0001589	frameshift_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572607_73572608delAG	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs					RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1480_1481	+			399			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	c.1195_1196delAG	CCDS32113.1																																																																																				0.446	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		16	192						16	192	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93712186	93712188	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr14:93712186_93712188delTGC	ENST00000334746.5	-	10	2873_2875	c.2566_2568delGCA	c.(2566-2568)gcadel	p.A856del	BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del|BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	856	Poly-Ala.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTCAGAtgctgctgctgct	0.537																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(2566-2568)del		BTB (POZ) domain containing 7																																				SO:0001651	inframe_deletion	55727							g.chr14:93712186_93712188delTGC	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2566_2568delGCA	14.37:g.93712195_93712197delTGC	ENSP00000335615:p.Ala856del					BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del|BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del	p.A856del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	10	2873_2875	-		all_cancers(154;0.08)	856			Poly-Ala.		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	In_Frame_Del	DEL	ENST00000334746.5	37	c.2566_2568delGCA	CCDS32146.1																																																																																				0.537	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		9	262						9	262	---	---	---	---
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-	rs371331758		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gaggga>gga	p.E89del	IFI27L1_ENST00000553664.1_5'Flank|DDX24_ENST00000555054.1_In_Frame_Del_p.E46del|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000557066.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(265-270)gga>g		DEAD (Asp-Glu-Ala-Asp) box helicase 24																																				SO:0001651	inframe_deletion	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545821_94545823delCCT	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.266_268delAGG	14.37:g.94545830_94545832delCCT	ENSP00000328690:p.Glu89del					DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del	p.EG89del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	397_399	-		all_cancers(154;0.12)	89			Poly-Glu.		E7EMJ4|Q4V9L5	In_Frame_Del	DEL	ENST00000330836.5	37	c.266_268delAGG	CCDS9918.1																																																																																				0.443	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		7	875						7	875	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31342690	31342690	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:31342690delC	ENST00000256552.6	-	12	1506	c.1359delG	c.(1357-1359)gggfs	p.G453fs	TRPM1_ENST00000542188.1_Frame_Shift_Del_p.G470fs|TRPM1_ENST00000397795.2_Frame_Shift_Del_p.G431fs	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		tcttgcctttcccttttcctc	0.557																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(1408-1410)ggfs		transient receptor potential cation channel, subfamily M, member 1							168.0	170.0	169.0					15																	31342690		1959	4148	6107	SO:0001589	frameshift_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31342690delC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1359delG	15.37:g.31342690delC	ENSP00000256552:p.Gly453fs					TRPM1_ENST00000397795.2_Frame_Shift_Del_p.G431fs|TRPM1_ENST00000256552.6_Frame_Shift_Del_p.G453fs	p.G470fs	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	11	1723	-		all_lung(180;1.92e-11)	431						Frame_Shift_Del	DEL	ENST00000256552.6	37	c.1410delG	CCDS58346.1																																																																																				0.557	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		19	256						19	256	---	---	---	---
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-	rs371085676|rs377432895	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		10	496						10	496	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42742957	42742957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:42742957delA	ENST00000263805.4	-	2	1770	c.1444delT	c.(1444-1446)tccfs	p.S482fs	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	482					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTCCAGGGGAAAAAAAATTT	0.393																																						ENST00000263805.4																			0											c.(1444-1446)ccfs		zinc finger protein 106							208.0	205.0	206.0					15																	42742957		2203	4299	6502	SO:0001589	frameshift_variant	64397							g.chr15:42742957delA	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1444delT	15.37:g.42742957delA	ENSP00000263805:p.Ser482fs					ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	p.S482fs	NM_022473.1	NP_071918.1					2	1770	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Frame_Shift_Del	DEL	ENST00000263805.4	37	c.1444delT	CCDS32208.1																																																																																				0.393	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		8	1413						8	1413	---	---	---	---
MAPK6	5597	broad.mit.edu	37	15	52356718	52356719	+	Frame_Shift_Del	DEL	AA	AA	-	rs376041003		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:52356718_52356719delAA	ENST00000261845.5	+	6	2494_2495	c.1687_1688delAA	c.(1687-1689)aaafs	p.K563fs	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	563					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		ACTAGAATTGAAAAGTTTGATA	0.391																																						ENST00000261845.5																			0				breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20						c.(1687-1689)afs		mitogen-activated protein kinase 6																																				SO:0001589	frameshift_variant	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52356718_52356719delAA	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1687_1688delAA	15.37:g.52356720_52356721delAA	ENSP00000261845:p.Lys563fs					CTD-2184D3.5_ENST00000558607.1_RNA	p.K563fs	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN		all cancers(107;0.0028)	6	2494_2495	+			563					B2R945|B5BU65|Q68DH4|Q8IYN8	Frame_Shift_Del	DEL	ENST00000261845.5	37	c.1687_1688delAA	CCDS10147.1																																																																																				0.391	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		8	254						8	254	---	---	---	---
ARID3B	10620	broad.mit.edu	37	15	74888025	74888027	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr15:74888025_74888027delCAG	ENST00000346246.5	+	9	1824_1826	c.1593_1595delCAG	c.(1591-1596)gccagc>gcc	p.S537del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	538	Ser-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcgccagcagcagcagc	0.64																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1591-1596)gcc>gc		AT rich interactive domain 3B (BRIGHT-like)																																				SO:0001651	inframe_deletion	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74888025_74888027delCAG		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1593_1595delCAG	15.37:g.74888034_74888036delCAG	ENSP00000343126:p.Ser537del						p.AS531del	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			9	1824_1826	+			532			Ser-rich.		O95443|Q59HC9|Q6P9C9	In_Frame_Del	DEL	ENST00000346246.5	37	c.1593_1595delCAG	CCDS10264.1																																																																																				0.640	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		7	218						7	218	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		54	1278						54	1278	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3647657	3647657	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:3647657delG	ENST00000294008.3	-	7	2046	c.1406delC	c.(1405-1407)ccafs	p.P469fs		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	469	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TAACAACAATGGGGGGGATAC	0.547								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1405-1407)cafs	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							62.0	73.0	69.0					16																	3647657		2197	4300	6497	SO:0001589	frameshift_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3647657delG	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1406delC	16.37:g.3647657delG	ENSP00000294008:p.Pro469fs						p.P469fs	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			7	2046	-			469			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Frame_Shift_Del	DEL	ENST00000294008.3	37	c.1406delC	CCDS10506.2																																																																																				0.547	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		7	708						7	708	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		12	1173						12	1173	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-	rs531337171|rs569719496	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		9	516						9	516	---	---	---	---
HERC2P4	100289574	broad.mit.edu	37	16	32182872	32182873	+	RNA	INS	-	-	AG			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr16:32182872_32182873insAG	ENST00000564730.1	-	0	15_16									hect domain and RLD 2 pseudogene 4																		TCTGTGGGAGCAGTCGCGATTT	0.559																																						ENST00000564730.1																			0																																																			0							g.chr16:32182872_32182873insAG			16p11.2	2014-03-18			ENSG00000230267	ENSG00000230267			4872	pseudogene	pseudogene							Standard	NR_109773		Approved	D16F37S5	uc002ecx.4		OTTHUMG00000176563		16.37:g.32182873_32182874dupAG														0	15_16	-									RNA	INS	ENST00000564730.1	37																																																																																						0.559	HERC2P4-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432538.1	NR_002827		7	434						7	434	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7496121	7496122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:7496121_7496122insG	ENST00000250113.7	-	14	1953_1954	c.1619_1620insC	c.(1618-1620)ccafs	p.P540fs	SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	540						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P540fs*32(1)|p.A541fs*14(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGGCACTTGCTGGGGGGGGTTC	0.609																																						ENST00000250113.7																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P540fs*32(1)|p.A541fs*14(1)	large_intestine(2)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1618-1620)cgcfs		fragile X mental retardation, autosomal homolog 2																																				SO:0001589	frameshift_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496121_7496122insG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1620dupC	17.37:g.7496129_7496129dupG	ENSP00000250113:p.Pro540fs						p.R540fs	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	14	1953_1954	-			540					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Frame_Shift_Ins	INS	ENST00000250113.7	37	c.1619_1620insC	CCDS45604.1																																																																																				0.609	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			7	271						7	271	---	---	---	---
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		7	543						7	543	---	---	---	---
KRT16P1	729252	broad.mit.edu	37	17	18345954	18345955	+	RNA	DEL	CA	CA	-	rs200950667	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:18345954_18345955delCA	ENST00000581027.1	+	0	1012									keratin 16 pseudogene 1																		TTCTCTCTCCCACAGTCTTCAC	0.614														2244	0.448083	0.3464	0.5187	5008	,	,		25130	0.371		0.5964	False		,,,				2504	0.4622					ENST00000580052.1																			0																																																			0							g.chr17:18345954_18345955delCA			17p11.2	2012-08-13	2010-02-25	2010-02-25	ENSG00000214856	ENSG00000214856			6420	pseudogene	pseudogene			"""keratin 14 pseudogene"""	KRT14P			Standard	NR_073414		Approved		uc010vya.2		OTTHUMG00000059249		17.37:g.18345956_18345957delCA														0	43	+									RNA	DEL	ENST00000581027.1	37																																																																																						0.614	KRT16P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446576.1	NG_007001		4	9						4	9	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26966334	26966334	+	Splice_Site	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:26966334delT	ENST00000528896.2	-	11	1302	c.1228delA	c.(1228-1230)aga>ga	p.R410fs	KIAA0100_ENST00000544884.1_Splice_Site_p.R267fs|KIAA0100_ENST00000389003.3_Splice_Site_p.R267fs	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	410						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGACTGACCTTTTTTTCCTT	0.438																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.e11+1		KIAA0100							112.0	119.0	117.0					17																	26966334		2203	4300	6503	SO:0001630	splice_region_variant	9703					extracellular region		g.chr17:26966334delT	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1229+1A>-	17.37:g.26966334delT						KIAA0100_ENST00000389003.3_Splice_Site_p.R267_splice|KIAA0100_ENST00000544884.1_Splice_Site_p.R267_splice	p.R410_splice	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			11	1302	-	Lung NSC(42;0.00431)		410					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Splice_Site	DEL	ENST00000528896.2	37	c.1229_splice	CCDS32595.1																																																																																				0.438	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	Frame_Shift_Del	8	553						8	553	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4573-4575)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027202_27027204delAGC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4573_4575delAGC	17.37:g.27027211_27027213delAGC	ENSP00000319104:p.Ser1528del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			34	4856_4858	+	Lung NSC(42;0.00431)		1528			Poly-Ser.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.4573_4575delAGC	CCDS32596.1																																																																																				0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		12	1425						12	1425	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:27620990_27620992delGCT	ENST00000225388.4	-	1	144_146	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.Q29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	29	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(85-90)ccg>c		nuclear fragile X mental retardation protein interacting protein 2																																				SO:0001651	inframe_deletion	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620990_27620992delGCT	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.86_88delAGC	17.37:g.27620999_27621001delGCT	ENSP00000225388:p.Gln29del					NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del	p.QP29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	144_146	-			29			His-rich.		A1L3A6|Q9P2M5	In_Frame_Del	DEL	ENST00000225388.4	37	c.86_88delAGC	CCDS32600.1																																																																																				0.591	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		10	401						10	401	---	---	---	---
PLCD3	113026	broad.mit.edu	37	17	43192760	43192762	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:43192760_43192762delTCC	ENST00000322765.5	-	9	1622_1624	c.1509_1511delGGA	c.(1507-1512)gaggat>gat	p.E503del	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	503					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E503D(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						ctcctcgtcatcctcctcctcct	0.67																																						ENST00000322765.5																			2	Substitution - Missense(2)	p.E503D(2)	prostate(2)	breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(1507-1512)gat>ga		phospholipase C, delta 3	Phosphatidylserine(DB00144)			316,3576		28,260,1658						-0.9	0.0			15	741,7257		61,619,3319	no	coding	PLCD3	NM_133373.3		89,879,4977	A1A1,A1R,RR		9.2648,8.1192,8.8898				1057,10833				SO:0001651	inframe_deletion	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43192760_43192762delTCC	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1509_1511delGGA	17.37:g.43192769_43192771delTCC	ENSP00000313731:p.Glu503del					PLCD3_ENST00000540511.1_5'UTR	p.ED503del	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			9	1622_1624	-			503					Q8TEC1|Q8TF37|Q96FL6	In_Frame_Del	DEL	ENST00000322765.5	37	c.1509_1511delGGA																																																																																					0.670	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		7	65						7	65	---	---	---	---
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(586-588)agfs		coilin							141.0	132.0	135.0					17																	55028016		2203	4300	6503	SO:0001589	frameshift_variant	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028016delT	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.587delA	17.37:g.55028016delT	ENSP00000240316:p.Lys196fs						p.K196fs	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	621	-	Breast(9;6.15e-08)		196			Lys-rich (basic).		B2R931	Frame_Shift_Del	DEL	ENST00000240316.4	37	c.587delA	CCDS11592.1																																																																																				0.393	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			7	778						7	778	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			9	96						9	96	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		15	238						15	238	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:19136394delT	ENST00000601879.1	-	3	1060	c.763delA	c.(763-765)atafs	p.I255fs	SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	255					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGGTGGGTATTTTTTTTGTG	0.502																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(763-765)tafs		SURP and G patch domain containing 2							168.0	156.0	160.0					19																	19136394		2203	4300	6503	SO:0001589	frameshift_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136394delT	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.763delA	19.37:g.19136394delT	ENSP00000472286:p.Ile255fs					SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs	p.I255fs			Q8IX01	SUGP2_HUMAN			3	1060	-			255					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Frame_Shift_Del	DEL	ENST00000601879.1	37	c.763delA	CCDS12392.1																																																																																				0.502	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		10	879						10	879	---	---	---	---
NUDT19	390916	broad.mit.edu	37	19	33200189	33200190	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:33200189_33200190delCT	ENST00000397061.3	+	2	813_814	c.813_814delCT	c.(811-816)gcctctfs	p.S272fs		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	272						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CAAACTTTGCCTCTCTCTCTGA	0.45																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(811-816)gcctfs		nudix (nucleoside diphosphate linked moiety X)-type motif 19																																				SO:0001589	frameshift_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200189_33200190delCT		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.813_814delCT	19.37:g.33200197_33200198delCT	ENSP00000380251:p.Ser272fs						p.AS271fs	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			2	813_814	+	Esophageal squamous(110;0.137)		271						Frame_Shift_Del	DEL	ENST00000397061.3	37	c.813_814delCT	CCDS42543.1																																																																																				0.450	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		9	1276						9	1276	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		14	974						14	974	---	---	---	---
PROSER3	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-	rs370252048		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2.0	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			9	1046						9	1046	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38609985	38609985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:38609985delC	ENST00000222345.6	+	9	2840	c.2331delC	c.(2329-2331)ggcfs	p.G777fs		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	777	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCTTTCGGCCCCCCCATCC	0.537																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2329-2331)ggfs		signal-induced proliferation-associated 1 like 3							66.0	74.0	71.0					19																	38609985		2203	4300	6503	SO:0001589	frameshift_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38609985delC	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2331delC	19.37:g.38609985delC	ENSP00000222345:p.Gly777fs						p.G777fs	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	2840	+			777			Rap-GAP.		Q2TV87	Frame_Shift_Del	DEL	ENST00000222345.6	37	c.2331delC	CCDS33007.1																																																																																				0.537	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		7	525						7	525	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:38948159_38948160delTG	ENST00000359596.3	+	17	1814_1815	c.1814_1815delTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000355481.4_Frame_Shift_Del_p.L605fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)			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)	CTATGCTCCCTGTGTGTGTGTA	0.53																																						ENST00000355481.4																			0				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.(1813-1815)cfs		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)																																			SO:0001589	frameshift_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.chr19:38948159_38948160delTG	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.1814_1815delTG	19.37:g.38948167_38948168delTG	ENSP00000352608:p.Leu605fs					RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs	p.L605fs	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)		17	1945_1946	+	all_cancers(60;7.91e-06)		605			B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Del	DEL	ENST00000359596.3	37	c.1814_1815delTG	CCDS33011.1																																																																																				0.530	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			8	1202						8	1202	---	---	---	---
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-	rs139624657|rs377069149|rs142743305		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:40900180_40900182delTCC	ENST00000324001.7	-	7	4347_4349	c.4077_4079delGGA	c.(4075-4080)gaggaa>gaa	p.1359_1360EE>E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing. {ECO:0000269|PubMed:11133365}.		axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4075-4080)gaa>ga		periaxin																																				SO:0001651	inframe_deletion	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900180_40900182delTCC	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4077_4079delGGA	19.37:g.40900189_40900191delTCC	ENSP00000326018:p.Glu1361del					PRX_ENST00000291825.7_3'UTR	p.EE1359del	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4347_4349	-			1359		Missing.	Poly-Glu.		Q9BXL9|Q9HCF2	In_Frame_Del	DEL	ENST00000324001.7	37	c.4077_4079delGGA	CCDS33028.1																																																																																				0.695	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		7	171						7	171	---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(67-72)ctt>ct		LY6/PLAUR domain containing 3																																				SO:0001651	inframe_deletion	27076					anchored to plasma membrane		g.chr19:43969653_43969655delAGC	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.69_71delGCT	19.37:g.43969662_43969664delAGC	ENSP00000244333:p.Leu24del						p.LL23del	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			1	157_159	-		Prostate(69;0.0153)	23					Q9UJ74	In_Frame_Del	DEL	ENST00000244333.3	37	c.69_71delGCT	CCDS12620.1																																																																																				0.675	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		18	893						18	893	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			7	738						7	738	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_ENST00000539381.1_In_Frame_Del_p.E173del|SLC8A2_ENST00000542837.1_In_Frame_Del_p.E466del|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2128-2133)gac>ga		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001651	inframe_deletion	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935681_47935683delTCC	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2130_2132delGGA	19.37:g.47935690_47935692delTCC	ENSP00000236877:p.Glu710del					SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR	p.ED710del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2525_2527	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	710					B4DYQ9	In_Frame_Del	DEL	ENST00000236877.6	37	c.2130_2132delGGA	CCDS33065.1																																																																																				0.616	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			10	534						10	534	---	---	---	---
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000445575.2_Intron	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		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;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(1180-1182)del		fuzzy planar cell polarity protein																																				SO:0001651	inframe_deletion	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50310483_50310485delCAG	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1180_1182delCTG	19.37:g.50310492_50310494delCAG	ENSP00000313309:p.Leu394del					FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del	p.L394del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	11	1343_1345	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	394			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	In_Frame_Del	DEL	ENST00000313777.4	37	c.1180_1182delCTG	CCDS12781.1																																																																																				0.635	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		7	261						7	261	---	---	---	---
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566																																						ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50474857_50474861delGACGC	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50474857_50474861delGACGC														0	998	+									RNA	DEL	ENST00000602139.1	37																																																																																						0.566	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		8	285						8	285	---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Intron	DEL	T	T	-	rs77187934		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr19:52877717delT	ENST00000422689.2	+	3	283				ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000597976.1_Frame_Shift_Del_p.I102fs|ZNF880_ENST00000424032.2_Intron	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473																																						ENST00000597976.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(304-306)atfs		zinc finger protein 880				279,569,2978		19,4,237,24,517,1112	16.0	16.0	16.0			1.2	0.0	19		17	673,1156,5999		28,27,590,42,1045,2182	no	intron	ZNF880	NM_001145434.1		47,31,827,66,1562,3294	A1A1,A1A2,A1R,A2A2,A2R,RR		23.3648,22.1641,22.9707			52877717	952,1725,8977	692	1591	2283	SO:0001627	intron_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52877717delT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+37T>-	19.37:g.52877717delT						ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron	p.I102fs			Q6PDB4	ZN880_HUMAN			3	325	+			0					B4DNA6	Frame_Shift_Del	DEL	ENST00000422689.2	37	c.305delT	CCDS46164.1																																																																																				0.473	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		8	78						8	78	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:5903283_5903285delGAG	ENST00000378961.4	+	4	697_699	c.493_495delGAG	c.(493-495)gagdel	p.E169del		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	169	Poly-Glu.					extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(493-495)del		chromogranin B (secretogranin 1)																																				SO:0001651	inframe_deletion	1114					extracellular region	hormone activity	g.chr20:5903283_5903285delGAG		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.493_495delGAG	20.37:g.5903292_5903294delGAG	ENSP00000368244:p.Glu169del						p.E169del	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	697_699	+			169			Poly-Glu.		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	In_Frame_Del	DEL	ENST00000378961.4	37	c.493_495delGAG	CCDS13092.1																																																																																				0.532	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		8	263						8	263	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21146805	21146805	+	RNA	DEL	G	G	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:21146805delG	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							TTTTTTTTTTGTCCATGAGGC	0.383																																						ENST00000591761.1																			0																																																			0							g.chr20:21146805delG																													20.37:g.21146805delG						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.383	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			9	115						9	115	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-	rs547594353	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(901-903)del		GDNF-inducible zinc finger protein 1				7,68,4189		0,0,7,1,66,2058						-8.0	0.0			52	1,62,8191		0,0,1,3,56,4067	no	codingComplex	GZF1	NM_022482.3		0,0,8,4,122,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7633,1.7589,1.1024				8,130,12380				SO:0001651	inframe_deletion	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345921_23345923delGAG	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.901_903delGAG	20.37:g.23345930_23345932delGAG	ENSP00000338290:p.Glu306del					GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron	p.E306del			Q9H116	GZF1_HUMAN			2	978_980	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		306					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	In_Frame_Del	DEL	ENST00000338121.5	37	c.901_903delGAG	CCDS13151.1																																																																																				0.532	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		16	404						16	404	---	---	---	---
BCL2L1	598	broad.mit.edu	37	20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:30309591delA	ENST00000307677.4	-	2	841	c.431delT	c.(430-432)ttcfs	p.F144fs	BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	144					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GCCGAAGGAGAAAAAGGCCAC	0.542																																					Colon(51;693 1004 1401 20431 21026)	ENST00000307677.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(430-432)tcfs		BCL2-like 1							199.0	198.0	199.0					20																	30309591		2203	4300	6503	SO:0001589	frameshift_variant	598				induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	g.chr20:30309591delA	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.431delT	20.37:g.30309591delA	ENSP00000302564:p.Phe144fs					BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron	p.F144fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		2	841	-	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		144					E1P5L6|Q5CZ89|Q5TE65|Q92976	Frame_Shift_Del	DEL	ENST00000307677.4	37	c.431delT	CCDS13189.1																																																																																				0.542	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578		11	1552						11	1552	---	---	---	---
BPIFB3	359710	broad.mit.edu	37	20	31644477	31644477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:31644477delT	ENST00000375494.3	+	2	254	c.254delT	c.(253-255)gttfs	p.V85fs	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	85	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CACGGAGGGGTTTTTGGCGTT	0.587																																						ENST00000375494.3																			0											c.(253-255)gtfs		BPI fold containing family B, member 3							94.0	89.0	91.0					20																	31644477		2203	4300	6503	SO:0001589	frameshift_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31644477delT	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.254delT	20.37:g.31644477delT	ENSP00000364643:p.Val85fs						p.V85fs	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			2	254	+			85			Leu-rich.		Q5TDX7	Frame_Shift_Del	DEL	ENST00000375494.3	37	c.254delT	CCDS13212.1																																																																																				0.587	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		7	346						7	346	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58490593	58490593	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr20:58490593delT	ENST00000357552.3	-	9	751	c.526delA	c.(526-528)atgfs	p.M176fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M176fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	176					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATAGCATTCATTTTTTTTATA	0.289																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(526-528)tgfs		synaptonemal complex protein 2							75.0	82.0	80.0					20																	58490593		2200	4289	6489	SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58490593delT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.526delA	20.37:g.58490593delT	ENSP00000350162:p.Met176fs					SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M176fs	p.M176fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		9	751	-	all_lung(29;0.00344)		176					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	ENST00000357552.3	37	c.526delA	CCDS13482.1																																																																																				0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		9	1109						9	1109	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33044257	33044259	+	In_Frame_Del	DEL	GCT	GCT	-	rs369631764		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr21:33044257_33044259delGCT	ENST00000286835.7	-	20	3279_3281	c.2897_2899delAGC	c.(2896-2901)cagcca>cca	p.Q966del	SCAF4_ENST00000434667.3_In_Frame_Del_p.Q951del|SCAF4_ENST00000399804.1_In_Frame_Del_p.Q944del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	966	Poly-Gln.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GATGGTGgtggctgctgctgctg	0.581																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2896-2901)cca>c		SR-related CTD-associated factor 4																																				SO:0001651	inframe_deletion	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044257_33044259delGCT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2897_2899delAGC	21.37:g.33044266_33044268delGCT	ENSP00000286835:p.Gln966del					SCAF4_ENST00000399804.1_In_Frame_Del_p.QP944del|SCAF4_ENST00000434667.3_In_Frame_Del_p.QP951del	p.QP966del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3279_3281	-			966			Poly-Gln.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	In_Frame_Del	DEL	ENST00000286835.7	37	c.2897_2899delAGC	CCDS33537.1																																																																																				0.581	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		32	697						32	697	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17127506	17127507	+	lincRNA	INS	-	-	A	rs546582747|rs190702005	byFrequency	TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr22:17127506_17127507insA	ENST00000426585.1	+	0	442									transmembrane phosphatase with tensin homology pseudogene 1																		AGGGCCTAGAGAAAAAAAAAAT	0.421													|||unknown(NO_COVERAGE)	11	0.00219649	0.0023	0.0014	5008	,	,		23257	0.001		0.001	False		,,,				2504	0.0051					ENST00000426585.1																			0																																																			0							g.chr22:17127506_17127507insA			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17127516_17127516dupA														0	442	+									RNA	INS	ENST00000426585.1	37																																																																																						0.421	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		19	459						19	459	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	GCA	-	rs143615881		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr22:42262949_42262951delGCA	ENST00000361204.4	+	2	369_371	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	74	Gly/Pro/Ser-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(202-207)ggc>g		sterol regulatory element binding transcription factor 2																																				SO:0001651	inframe_deletion	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42262949_42262951delGCA	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.203_205delGCA	22.37:g.42262958_42262960delGCA	ENSP00000354476:p.Ser74del						p.GS68del	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			2	369_371	+			68			Gly/Pro/Ser-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	In_Frame_Del	DEL	ENST00000361204.4	37	c.203_205delGCA	CCDS14023.1																																																																																				0.567	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		20	503						20	503	---	---	---	---
SMDT1	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	GAT	-	rs141840500		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chr22:42478046_42478048delGAT	ENST00000331479.3	+	2	378_380	c.304_306delGAT	c.(304-306)gatdel	p.D107del		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	107	Asp/Glu-rich.				calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)											TGTTCCAGAGGATGATGATGATG	0.478																																						ENST00000331479.3																			0											c.(304-306)del		single-pass membrane protein with aspartate-rich tail 1				0,4264		0,0,2132						3.7	1.0			147	3,8251		0,3,4124	no	coding	C22orf32	NM_033318.4		0,3,6256	A1A1,A1R,RR		0.0363,0.0,0.024				3,12515				SO:0001651	inframe_deletion	91689							g.chr22:42478046_42478048delGAT	BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"""chromosome 22 open reading frame 32"""	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.304_306delGAT	22.37:g.42478055_42478057delGAT	ENSP00000327467:p.Asp107del					SMDT1_ENST00000547929.1_Intron	p.D107del	NM_033318.4	NP_201575.3					2	378_380	+								B2R5D1|Q8TAB9	In_Frame_Del	DEL	ENST00000331479.3	37	c.304_306delGAT	CCDS14031.1																																																																																				0.478	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322086.1	NM_033318		11	495						11	495	---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(967-969)cfs		taxilin gamma																																				SO:0001589	frameshift_variant	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16850849_16850850delAG	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs					TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	p.Q323fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			6	1029_1030	+			323					Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	ENST00000380122.5	37	c.968_969delAG	CCDS14178.1																																																																																				0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		10	324						10	324	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		34	57						34	57	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-7647-01A-11D-2154-08	TCGA-IB-7647-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2579415-7e40-48ba-a59c-e5543b8097dc	fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		8	237						8	237	---	---	---	---
