#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
SCN3A	6328	broad.mit.edu	37	2	165986734	165986734	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:165986734C>T	ENST00000360093.3	-	17	3129	c.2638G>A	c.(2638-2640)Ggg>Agg	p.G880R	SCN3A_ENST00000283254.7_Missense_Mutation_p.G880R|SCN3A_ENST00000409101.3_Missense_Mutation_p.G831R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	880					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTAGAGCCCCCACAGAATTG	0.433																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(2638-2640)Ggg>Agg		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						126.0	126.0	126.0					2																	165986734		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165986734C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2638G>A	2.37:g.165986734C>T	ENSP00000353206:p.Gly880Arg					SCN3A_ENST00000409101.3_Missense_Mutation_p.G831R|SCN3A_ENST00000283254.7_Missense_Mutation_p.G880R	p.G880R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			17	3129	-			880					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2638G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.092709	0.94149	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.64402	D	0.000014	D	0.97983	0.9336	L	0.53617	1.68	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99100	1.0843	10	0.87932	D	0	.	19.353	0.94398	0.0:1.0:0.0:0.0	.	880;831;831;831;880	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	R	880;880;831;831	ENSP00000353206:G880R;ENSP00000283254:G880R;ENSP00000386726:G831R;ENSP00000403348:G831R	ENSP00000283254:G880R	G	-	1	0	SCN3A	165694980	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.571000	0.86741	0.563000	0.77884	GGG		0.433	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		7	913	0	0	0	1	0	7	913				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	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		13	566	0	0	0	1	0	13	566				
SPTBN5	51332	broad.mit.edu	37	15	42147503	42147503	+	Silent	SNP	G	G	T	rs577570685	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:42147503G>T	ENST00000320955.6	-	55	9569	c.9342C>A	c.(9340-9342)acC>acA	p.T3114T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3114					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGAGGAGCAGGGTCTCTCGCT	0.682																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(9340-9342)acC>acA		spectrin, beta, non-erythrocytic 5							22.0	27.0	25.0					15																	42147503		2048	4175	6223	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42147503G>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9342C>A	15.37:g.42147503G>T							p.T3114T	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	55	9569	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3114						Silent	SNP	ENST00000320955.6	37	c.9342C>A																																																																																					0.682	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		13	149	1	0	9.31168e-06	1	9.94451e-06	13	149				
ADAMTS14	140766	broad.mit.edu	37	10	72489912	72489912	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:72489912C>T	ENST00000373207.1	+	6	1009	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R337C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	337	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCAGGTGTGTCGCTGGGCACA	0.667																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1009-1011)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							77.0	71.0	73.0					10																	72489912		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72489912C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1009C>T	10.37:g.72489912C>T	ENSP00000362303:p.Arg337Cys					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R337C	p.R337C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			6	1009	+			337			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1009C>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163344	0.94727	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.64260	-0.09;-0.09	4.7	4.7	0.59300	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.959;0.982	D	0.84031	0.0359	10	0.87932	D	0	.	17.8161	0.88634	0.0:1.0:0.0:0.0	.	337;337	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	C	337	ENSP00000362304:R337C;ENSP00000362303:R337C	ENSP00000362303:R337C	R	+	1	0	ADAMTS14	72159918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.739000	0.68622	2.608000	0.88229	0.655000	0.94253	CGC		0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		35	414	0	0	0	1	0	35	414				
TFDP3	51270	broad.mit.edu	37	X	132351106	132351106	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:132351106G>A	ENST00000310125.4	-	1	1270	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	394	Asp/Glu-rich (acidic; NCB domain).				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GGTCGTCATCGTTGTTGTCCT	0.498																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(1180-1182)aaC>aaT		transcription factor Dp family, member 3							95.0	93.0	94.0					X																	132351106		2201	4299	6500	SO:0001819	synonymous_variant	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351106G>A	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.1182C>T	X.37:g.132351106G>A							p.N394N	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	1270	-	Acute lymphoblastic leukemia(192;0.000127)		394			Asp/Glu-rich (acidic; NCB domain).		Q6DK49|Q9NZ54	Silent	SNP	ENST00000310125.4	37	c.1182C>T	CCDS14636.2																																																																																				0.498	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		184	768	0	0	0	1	0	184	768				
SNX2	6643	broad.mit.edu	37	5	122152644	122152644	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:122152644G>A	ENST00000379516.2	+	9	941	c.833G>A	c.(832-834)gGa>gAa	p.G278E	SNX2_ENST00000514949.1_Missense_Mutation_p.G161E|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	278					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GCTCTGAGTGGAGCAGGAATA	0.443																																						ENST00000379516.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(832-834)gGa>gAa		sorting nexin 2							71.0	69.0	69.0					5																	122152644		2203	4300	6503	SO:0001583	missense	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122152644G>A	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"""Sorting nexins"""	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.833G>A	5.37:g.122152644G>A	ENSP00000368831:p.Gly278Glu					SNX2_ENST00000514949.1_Missense_Mutation_p.G161E|SNX2_ENST00000510372.1_3'UTR	p.G278E	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	9	941	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	278					B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	c.833G>A	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778916	0.90195	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.27104	1.74;1.69	5.93	5.93	0.95920	.	0.161709	0.56097	D	0.000027	T	0.43478	0.1249	M	0.87180	2.865	0.80722	D	1	B	0.24920	0.114	B	0.28916	0.096	T	0.44205	-0.9343	10	0.87932	D	0	-20.0384	20.3334	0.98727	0.0:0.0:1.0:0.0	.	278	O60749	SNX2_HUMAN	E	278;161	ENSP00000368831:G278E;ENSP00000421663:G161E	ENSP00000368831:G278E	G	+	2	0	SNX2	122180543	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.688000	0.98670	2.818000	0.97014	0.591000	0.81541	GGA		0.443	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		6	208	0	0	0	1	0	6	208				
LOC645752	645752	broad.mit.edu	37	15	78211512	78211512	+	lincRNA	SNP	C	C	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:78211512C>A	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							GTTCCTTGCTCAGGACACTCA	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211512C>A																													15.37:g.78211512C>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	999	1	0	0.307466	1	0.30887	7	999				
NLRP12	91662	broad.mit.edu	37	19	54314419	54314419	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:54314419T>C	ENST00000324134.6	-	3	662	c.494A>G	c.(493-495)gAg>gGg	p.E165G	NLRP12_ENST00000351894.4_Missense_Mutation_p.E165G|NLRP12_ENST00000391773.1_Missense_Mutation_p.E165G|NLRP12_ENST00000391775.3_Missense_Mutation_p.E165G|NLRP12_ENST00000535162.1_Missense_Mutation_p.E165G|NLRP12_ENST00000354278.3_Missense_Mutation_p.E165G|NLRP12_ENST00000345770.5_Missense_Mutation_p.E165G|NLRP12_ENST00000391772.1_Missense_Mutation_p.E165G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	165					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTTTGAGTGCTCCTTCACCAG	0.612																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(493-495)gAg>gGg		NLR family, pyrin domain containing 12							77.0	72.0	74.0					19																	54314419		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314419T>C	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.494A>G	19.37:g.54314419T>C	ENSP00000319377:p.Glu165Gly					NLRP12_ENST00000345770.5_Missense_Mutation_p.E165G|NLRP12_ENST00000391772.1_Missense_Mutation_p.E165G|NLRP12_ENST00000354278.3_Missense_Mutation_p.E165G|NLRP12_ENST00000391773.1_Missense_Mutation_p.E165G|NLRP12_ENST00000391775.3_Missense_Mutation_p.E165G|NLRP12_ENST00000535162.1_Missense_Mutation_p.E165G|NLRP12_ENST00000351894.4_Missense_Mutation_p.E165G	p.E165G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	662	-	Ovarian(34;0.19)		165					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.494A>G	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.998559	0.54147	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	4.25	3.21	0.36854	.	0.156011	0.29707	N	0.011410	D	0.90745	0.7095	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.66716	0.922;0.946;0.922;0.946	D	0.89923	0.4060	10	0.72032	D	0.01	.	5.111	0.14809	0.0:0.221:0.0:0.7789	.	165;165;165;165	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	G	165	ENSP00000319377:E165G;ENSP00000438030:E165G;ENSP00000340473:E165G;ENSP00000346231:E165G;ENSP00000375655:E165G;ENSP00000375653:E165G;ENSP00000375652:E165G	ENSP00000319377:E165G	E	-	2	0	NLRP12	59006231	0.002000	0.14202	0.979000	0.43373	0.937000	0.57800	1.332000	0.33805	1.716000	0.51395	0.254000	0.18369	GAG		0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		5	606	0	0	0	1	0	5	606				
TBP	6908	broad.mit.edu	37	6	170871058	170871058	+	Silent	SNP	G	G	A	rs113440919		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:170871058G>A	ENST00000392092.2	+	3	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	78	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|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 from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(232-234)caG>caA		TATA box binding protein							13.0	18.0	16.0					6																	170871058		1927	3786	5713	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871058G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.234G>A	6.37:g.170871058G>A						TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q	p.Q78Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	513	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	78			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.234G>A	CCDS5315.1																																																																																				0.577	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		8	366	0	0	0	1	0	8	366				
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657																																						ENST00000375541.5																			11	Substitution - Missense(11)	p.A704T(11)	kidney(7)|endometrium(1)|prostate(1)|lung(1)|central_nervous_system(1)	breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(2110-2112)Gcc>Acc		ciliary rootlet coiled-coil, rootletin							20.0	18.0	19.0					1																	17272075		2199	4291	6490	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17272075G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2110G>A	1.37:g.17272075G>A	ENSP00000364691:p.Ala704Thr					CROCC_ENST00000467938.1_3'UTR	p.A704T	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	15	2179	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	704						Missense_Mutation	SNP	ENST00000375541.5	37	c.2110G>A	CCDS30616.1	202	0.0924908424908425	54	0.10975609756097561	27	0.07458563535911603	41	0.07167832167832168	80	0.10554089709762533	g	7.919	0.738064	0.15574	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10668	2.85	5.01	4.1	0.47936	.	.	.	.	.	T	0.00300	0.0009	L	0.47716	1.5	0.30387	N	0.781339	D;P;P	0.57899	0.981;0.952;0.873	P;P;B	0.52554	0.702;0.579;0.439	T	0.02477	-1.1153	9	0.16420	T	0.52	.	13.1749	0.59621	0.0795:0.0:0.9205:0.0	rs2781608;rs3871256;rs3872330	567;7;704	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	T	704;585	ENSP00000364691:A704T	ENSP00000364691:A704T	A	+	1	0	CROCC	17144662	0.999000	0.42202	0.970000	0.41538	0.013000	0.08279	2.720000	0.47252	1.448000	0.47680	-0.215000	0.12644	GCC		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		5	121	0	0	0	1	0	5	121				
IGHV3-21	28444	broad.mit.edu	37	14	106691922	106691922	+	RNA	SNP	C	C	T	rs528633029	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:106691922C>T	ENST00000390607.2	-	0	180									immunoglobulin heavy variable 3-21																		TCAGGGACCCCCCAGGCTTGA	0.587													c|||	9	0.00179712	0.0061	0.0014	5008	,	,		10340	0.0		0.0	False		,,,				2504	0.0					ENST00000390607.2																			0																				102.0	96.0	98.0					14																	106691922		1874	4103	5977			0							g.chr14:106691922C>T	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691922C>T														0	180	-									RNA	SNP	ENST00000390607.2	37																																																																																						0.587	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		7	1087	0	0	0	1	0	7	1087				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		4	125	0	0	0	1	0	4	125				
TEP1	7011	broad.mit.edu	37	14	20851408	20851408	+	Silent	SNP	A	A	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:20851408A>C	ENST00000262715.5	-	27	4012	c.3972T>G	c.(3970-3972)tcT>tcG	p.S1324S	TEP1_ENST00000556935.1_Silent_p.S1216S|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1324	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGCCCGAGCAGAGGCCTCCA	0.647																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3970-3972)tcT>tcG		telomerase-associated protein 1							32.0	35.0	34.0					14																	20851408		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20851408A>C		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3972T>G	14.37:g.20851408A>C						TEP1_ENST00000556935.1_Silent_p.S1216S	p.S1324S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	27	4012	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1324			NACHT.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.3972T>G	CCDS9548.1																																																																																				0.647	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		21	199	0	0	0	1	0	21	199				
ANKEF1	63926	broad.mit.edu	37	20	10030553	10030553	+	Missense_Mutation	SNP	C	C	T	rs114206956	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:10030553C>T	ENST00000378380.3	+	6	1665	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R446W|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	446							calcium ion binding (GO:0005509)										GTTTCCACGCCGGCAGGATGG	0.458													C|||	5	0.000998403	0.0038	0.0	5008	,	,		18267	0.0		0.0	False		,,,				2504	0.0					ENST00000378380.3																			0											c.(1336-1338)Cgg>Tgg		ankyrin repeat and EF-hand domain containing 1		C	TRP/ARG,TRP/ARG	14,4392	22.3+/-47.3	0,14,2189	86.0	81.0	83.0		1336,1336	3.9	0.0	20	dbSNP_132	83	0,8600		0,0,4300	yes	missense,missense	ANKRD5	NM_022096.4,NM_198798.1	101,101	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	benign,benign	446/777,446/777	10030553	14,12992	2203	4300	6503	SO:0001583	missense	63926							g.chr20:10030553C>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1336C>T	20.37:g.10030553C>T	ENSP00000367631:p.Arg446Trp					ANKEF1_ENST00000378392.1_Missense_Mutation_p.R446W|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR	p.R446W	NM_198798.1	NP_942093.1					6	1665	+								B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.1336C>T	CCDS13108.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	10.59	1.393374	0.25205	0.003177	0.0	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.70749	-0.51;-0.51	5.87	3.88	0.44766	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82843	0.5125	M	0.77103	2.36	0.54753	D	0.999982	D	0.89917	1.0	D	0.67548	0.952	D	0.84772	0.0768	10	0.62326	D	0.03	4.5514	14.9915	0.71393	0.3887:0.6113:0.0:0.0	.	446	Q9NU02	ANKR5_HUMAN	W	446	ENSP00000367644:R446W;ENSP00000367631:R446W	ENSP00000367631:R446W	R	+	1	2	ANKRD5	9978553	0.288000	0.24324	0.014000	0.15608	0.232000	0.25224	0.881000	0.28173	0.886000	0.36113	0.655000	0.94253	CGG		0.458	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		67	513	0	0	0	1	0	67	513				
SYTL4	94121	broad.mit.edu	37	X	99956515	99956515	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:99956515G>A	ENST00000372989.1	-	5	596	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	SYTL4_ENST00000372981.1_Missense_Mutation_p.R89W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R89W|SYTL4_ENST00000263033.5_Missense_Mutation_p.R89W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R89W|SYTL4_ENST00000454200.2_Missense_Mutation_p.R89W	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	89	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CGGCAGTCCCGACACACCAGG	0.572																																						ENST00000372981.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(265-267)Cgg>Tgg		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						107.0	90.0	96.0					X																	99956515		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99956515G>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.265C>T	X.37:g.99956515G>A	ENSP00000362080:p.Arg89Trp					SYTL4_ENST00000263033.5_Missense_Mutation_p.R89W|SYTL4_ENST00000454200.2_Missense_Mutation_p.R89W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R89W|SYTL4_ENST00000372989.1_Missense_Mutation_p.R89W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R89W	p.R89W			Q96C24	SYTL4_HUMAN			3	451	-			89			RabBD.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.265C>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920656	0.52653	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.25	4.39	0.52855	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.262657	0.37530	N	0.002046	D	0.82356	0.5019	M	0.63843	1.955	0.29637	N	0.845039	D;D	0.76494	0.999;0.986	P;P	0.62382	0.901;0.487	T	0.77707	-0.2487	9	.	.	.	-4.0888	8.1107	0.30914	0.0833:0.0:0.7602:0.1565	.	89;89	Q96C24-2;Q96C24	.;SYTL4_HUMAN	W	89	ENSP00000362080:R89W;ENSP00000390252:R89W;ENSP00000403556:R89W;ENSP00000276141:R89W;ENSP00000263033:R89W;ENSP00000362072:R89W	.	R	-	1	2	SYTL4	99843171	0.987000	0.35691	0.961000	0.40146	0.629000	0.37895	3.328000	0.52052	1.119000	0.41883	0.600000	0.82982	CGG		0.572	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		153	820	0	0	0	1	0	153	820				
UBE2NL	389898	broad.mit.edu	37	X	142967510	142967510	+	Missense_Mutation	SNP	G	G	A	rs150007003		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:142967510G>A	ENST00000370494.1	+	1	338	c.308G>A	c.(307-309)cGc>cAc	p.R103H		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	103						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAGATCCGCACAGTTCTG	0.423																																						ENST00000370494.1																			0				breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(307-309)cGc>cAc		ubiquitin-conjugating enzyme E2N-like		G	HIS/ARG	1,3834		0,1,1631,571	110.0	95.0	100.0		308	1.2	1.0	X	dbSNP_134	100	1,6727		0,1,2427,1872	no	missense	UBE2NL	NM_001012989.1	29	0,2,4058,2443	AA,AG,GG,G		0.0149,0.0261,0.0189	possibly-damaging	103/154	142967510	2,10561	2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967510G>A			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.308G>A	X.37:g.142967510G>A	ENSP00000359525:p.Arg103His						p.R103H	NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN			1	338	+	Acute lymphoblastic leukemia(192;6.56e-05)		103					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.308G>A	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	G	8.376	0.836434	0.16891	2.61E-4	1.49E-4	ENSG00000102069	ENST00000370494	T	0.38560	1.13	1.16	1.16	0.20824	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.265427	0.19850	U	0.104652	T	0.50990	0.1648	M	0.92970	3.365	0.58432	D	0.999995	B	0.31009	0.303	B	0.35278	0.199	T	0.57476	-0.7805	10	0.56958	D	0.05	11.1641	7.9726	0.30136	0.0:0.0:1.0:0.0	.	103	Q5JXB2	UE2NL_HUMAN	H	103	ENSP00000359525:R103H	ENSP00000359525:R103H	R	+	2	0	UBE2NL	142795176	1.000000	0.71417	0.998000	0.56505	0.041000	0.13682	6.239000	0.72356	0.899000	0.36444	0.181000	0.17075	CGC		0.423	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		6	964	0	0	0	1	0	6	964				
RNF149	284996	broad.mit.edu	37	2	101898405	101898405	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:101898405G>A	ENST00000295317.3	-	6	1182	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	359					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GCTGATGGTGGACTGCTGTCA	0.507																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(1075-1077)Cca>Tca		ring finger protein 149							168.0	150.0	157.0					2																	101898405		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101898405G>A	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1075C>T	2.37:g.101898405G>A	ENSP00000295317:p.Pro359Ser						p.P359S	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			6	1182	-			359					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.1075C>T	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	G	6.110	0.388625	0.11581	.	.	ENSG00000163162	ENST00000295317	T	0.09255	3.0	5.63	0.874	0.19124	.	1.265960	0.05900	N	0.629823	T	0.02888	0.0086	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40608	-0.9554	10	0.06099	T	0.92	.	4.9472	0.13994	0.5279:0.0:0.3314:0.1408	.	359	Q8NC42	RN149_HUMAN	S	359	ENSP00000295317:P359S	ENSP00000295317:P359S	P	-	1	0	RNF149	101264837	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.576000	0.23744	0.190000	0.20209	0.563000	0.77884	CCA		0.507	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		6	657	0	0	0	1	0	6	657				
WWP2	11060	broad.mit.edu	37	16	69832593	69832593	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:69832593G>A	ENST00000359154.2	+	3	180	c.79G>A	c.(79-81)Gca>Aca	p.A27T	WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000356003.2_Missense_Mutation_p.A27T|WWP2_ENST00000569174.1_Missense_Mutation_p.A27T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	27	C2.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGGTGTCCGCAAAGCCCAA	0.527											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(79-81)Gca>Aca		WW domain containing E3 ubiquitin protein ligase 2							117.0	115.0	116.0					16																	69832593		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69832593G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.79G>A	16.37:g.69832593G>A	ENSP00000352069:p.Ala27Thr		OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1117	WWP2_ENST00000569174.1_Missense_Mutation_p.A27T|WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000356003.2_Missense_Mutation_p.A27T	p.A27T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			3	180	+			27			C2.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.79G>A	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551721	0.86127	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	T;T;T	0.80738	-1.41;-1.41;-1.41	5.76	5.76	0.90799	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.198406	0.45606	D	0.000349	T	0.76054	0.3934	M	0.67397	2.05	0.80722	D	1	P	0.46020	0.871	B	0.32583	0.148	T	0.78339	-0.2242	9	.	.	.	.	16.6952	0.85333	0.0:0.0:1.0:0.0	.	27	O00308	WWP2_HUMAN	T	27	ENSP00000352069:A27T;ENSP00000396871:A27T;ENSP00000348283:A27T	.	A	+	1	0	WWP2	68390094	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.778000	0.62368	2.713000	0.92767	0.655000	0.94253	GCA		0.527	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		7	734	0	0	0	1	0	7	734				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	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		6	301	0	0	0	1	0	6	301				
RPA2	6118	broad.mit.edu	37	1	28240575	28240575	+	Splice_Site	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:28240575G>A	ENST00000373912.3	-	2	415	c.116C>T	c.(115-117)tCa>tTa	p.S39L	RPA2_ENST00000313433.7_Splice_Site_p.S127L|RPA2_ENST00000373909.3_Splice_Site_p.S47L	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	39	Arg/Lys-rich (basic).				base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|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 A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TCAACCTACTGATTTCTTTTC	0.493								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000373912.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.e2+1	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A2, 32kDa							63.0	72.0	69.0					1																	28240575		2203	4300	6503	SO:0001630	splice_region_variant	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28240575G>A	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.117+1C>T	1.37:g.28240575G>A						RPA2_ENST00000373909.3_Splice_Site_p.S47_splice|RPA2_ENST00000313433.7_Splice_Site_p.S127_splice	p.S39_splice	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	2	415	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	39			Arg/Lys-rich (basic).		Q52II0|Q5TEI9|Q5TEJ5	Splice_Site	SNP	ENST00000373912.3	37	c.117_splice	CCDS314.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126577	0.56721	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.25085	2.12;2.12;2.09;1.82	4.59	4.59	0.56863	.	0.415066	0.27088	N	0.020998	T	0.31482	0.0798	L	0.53249	1.67	0.42689	D	0.993576	B;P	0.35944	0.161;0.529	B;B	0.39840	0.081;0.311	T	0.20706	-1.0267	10	0.59425	D	0.04	-0.0166	16.5256	0.84330	0.0:0.0:1.0:0.0	.	39;47	P15927;P15927-2	RFA2_HUMAN;.	L	39;47;127;43	ENSP00000363021:S39L;ENSP00000363017:S47L;ENSP00000363015:S127L;ENSP00000387649:S43L	ENSP00000363015:S127L	S	-	2	0	RPA2	28113162	0.998000	0.40836	0.966000	0.40874	0.153000	0.21895	2.806000	0.47947	2.261000	0.74972	0.555000	0.69702	TCA		0.493	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946	Missense_Mutation	5	222	0	0	0	1	0	5	222				
NCOR1P1	149934	broad.mit.edu	37	20	26084094	26084094	+	RNA	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:26084094T>C	ENST00000478176.1	-	0	363					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		aaaacataCATTCTTAGAATA	0.299																																						ENST00000478176.1																			0																				76.0	58.0	64.0					20																	26084094		692	1588	2280			0							g.chr20:26084094T>C	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084094T>C								NR_003678.1						0	363	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.299	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			7	144	0	0	0	1	0	7	144				
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TGATTTTCTTCGCACTGATCC	0.408																																						ENST00000400153.2																			0																																																			0							g.chr15:23191911C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23191911C>T								NR_003521.1						0	1785	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.408	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		6	272	0	0	0	1	0	6	272				
NDUFA1	4694	broad.mit.edu	37	X	119005896	119005896	+	Missense_Mutation	SNP	G	G	A	rs104894884		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:119005896G>A	ENST00000371437.4	+	1	447	c.22G>A	c.(22-24)Gga>Aga	p.G8R	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	8			G -> R (in MT-C1D). {ECO:0000269|PubMed:17262856}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						GATTCTCCCCGGACTCTCCGT	0.582																																						ENST00000371437.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5	GRCh37	CM070206	NDUFA1	M	rs104894884	c.(22-24)Gga>Aga		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	NADH(DB00157)						184.0	149.0	161.0					X																	119005896		2203	4300	6503	SO:0001583	missense	4694				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrX:119005896G>A		CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"""Mitochondrial respiratory chain complex / Complex I"""	7683	protein-coding gene	gene with protein product	"""NADH:ubiquinone oxidoreductase (complex 1)"", ""type I dehydrogenase"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"", ""complex I MWFE subunit"""	300078	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"""			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.22G>A	X.37:g.119005896G>A	ENSP00000360492:p.Gly8Arg						p.G8R	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN			1	447	+			8		G -> R (in MT-C1D).				Missense_Mutation	SNP	ENST00000371437.4	37	c.22G>A	CCDS14590.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.436087	0.43224	.	.	ENSG00000125356	ENST00000371437	T	0.78481	-1.18	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	.	.	.	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.86588	0.1858	9	0.42905	T	0.14	-17.2435	13.6857	0.62515	0.0:0.0:1.0:0.0	.	8	O15239	NDUA1_HUMAN	R	8	ENSP00000360492:G8R	ENSP00000360492:G8R	G	+	1	0	NDUFA1	118889924	1.000000	0.71417	0.749000	0.31150	0.584000	0.36387	3.502000	0.53332	2.300000	0.77407	0.600000	0.82982	GGA		0.582	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058080.1	NM_004541		34	1455	0	0	0	1	0	34	1455				
DAXX	1616	broad.mit.edu	37	6	33287900	33287900	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000414083.2_Silent_p.E376E|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Silent_p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		2	Substitution - coding silent(2)	p.E451E(2)	prostate(1)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1351-1353)gaG>gaA		death-domain associated protein							127.0	100.0	109.0					6																	33287900		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287900C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1353G>A	6.37:g.33287900C>T						DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000414083.2_Silent_p.E376E	p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			5	1557	-			451			Asp/Glu-rich (acidic).|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.1353G>A	CCDS4776.1																																																																																				0.557	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			8	314	0	0	0	1	0	8	314				
PHF23	79142	broad.mit.edu	37	17	7140034	7140034	+	Missense_Mutation	SNP	G	G	A	rs563385673		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:7140034G>A	ENST00000320316.3	-	4	438	c.212C>T	c.(211-213)gCg>gTg	p.A71V	PHF23_ENST00000571362.1_Intron|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.A67V|PHF23_ENST00000576955.1_5'UTR|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000570753.1_5'UTR	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	71							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						ACTGTCGGCCGCACTCTCTCC	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17289	0.0		0.0	False		,,,				2504	0.0					ENST00000320316.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(211-213)gCg>gTg		PHD finger protein 23							68.0	75.0	73.0					17																	7140034		1929	4143	6072	SO:0001583	missense	79142						zinc ion binding	g.chr17:7140034G>A	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.212C>T	17.37:g.7140034G>A	ENSP00000322579:p.Ala71Val					PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000571362.1_Intron|PHF23_ENST00000454255.2_Missense_Mutation_p.A67V|PHF23_ENST00000570753.1_5'UTR	p.A71V	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN			4	438	-			71					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.212C>T	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992654	0.74703	.	.	ENSG00000040633	ENST00000320316;ENST00000454255;ENST00000043410	T;T	0.32753	1.44;1.44	4.8	4.8	0.61643	.	0.141790	0.45606	D	0.000348	T	0.30355	0.0762	L	0.29908	0.895	0.42771	D	0.993835	D	0.61697	0.99	P	0.47470	0.548	T	0.08785	-1.0705	10	0.62326	D	0.03	-10.6011	15.399	0.74823	0.0:0.0:1.0:0.0	.	71	Q9BUL5	PHF23_HUMAN	V	71;67;71	ENSP00000322579:A71V;ENSP00000414607:A67V	ENSP00000043410:A71V	A	-	2	0	PHF23	7080758	0.993000	0.37304	0.992000	0.48379	0.795000	0.44927	2.697000	0.47060	2.488000	0.83962	0.557000	0.71058	GCG		0.552	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		8	922	0	0	0	1	0	8	922				
HTR3A	3359	broad.mit.edu	37	11	113857759	113857759	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:113857759G>A	ENST00000504030.2	+	8	1574	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	HTR3A_ENST00000506841.2_Missense_Mutation_p.D409N|HTR3A_ENST00000375498.2_Missense_Mutation_p.D383N|HTR3A_ENST00000355556.2_Missense_Mutation_p.D415N|HTR3A_ENST00000299961.5_Missense_Mutation_p.D362N|HTR3A_ENST00000535865.1_Missense_Mutation_p.D121N			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	377					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CAAGACTGATGACTGCTCAGG	0.582																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1129-1131)Gac>Aac		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						26.0	29.0	28.0					11																	113857759		2197	4292	6489	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857759G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1129G>A	11.37:g.113857759G>A	ENSP00000424189:p.Asp377Asn					HTR3A_ENST00000355556.2_Missense_Mutation_p.D415N|HTR3A_ENST00000375498.2_Missense_Mutation_p.D383N|HTR3A_ENST00000506841.2_Missense_Mutation_p.D409N|HTR3A_ENST00000299961.5_Missense_Mutation_p.D362N|HTR3A_ENST00000535865.1_Missense_Mutation_p.D121N	p.D377N			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	8	1574	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	377					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1129G>A		.	.	.	.	.	.	.	.	.	.	G	10.56	1.383357	0.25031	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;T;D;T;D;D	0.83914	-1.78;1.9;-1.78;1.9;-1.78;-1.78	5.5	3.26	0.37387	.	1.090970	0.06727	N	0.775992	T	0.76772	0.4034	L	0.38175	1.15	0.38660	D	0.952058	B;B;B	0.14012	0.002;0.008;0.009	B;B;B	0.19666	0.01;0.012;0.026	T	0.64162	-0.6472	10	0.29301	T	0.29	-20.6259	9.712	0.40251	0.2049:0.0:0.7951:0.0	.	362;415;383	B4DSY6;G5E986;Q7KZM7	.;.;.	N	377;415;383;409;121;362	ENSP00000424189:D377N;ENSP00000347754:D415N;ENSP00000364648:D383N;ENSP00000424776:D409N;ENSP00000437776:D121N;ENSP00000299961:D362N	ENSP00000299961:D362N	D	+	1	0	HTR3A	113362969	0.956000	0.32656	0.839000	0.33178	0.112000	0.19704	1.552000	0.36244	1.459000	0.47892	0.655000	0.94253	GAC		0.582	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		10	416	0	0	0	1	0	10	416				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000449699.1_5'Flank|SNORA41_ENST00000384675.1_RNA|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000233190.6_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		7	685	0	0	0	1	0	7	685				
PLXNA1	5361	broad.mit.edu	37	3	126736303	126736303	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:126736303C>T	ENST00000393409.2	+	17	3312	c.3312C>T	c.(3310-3312)tgC>tgT	p.C1104C	PLXNA1_ENST00000251772.4_Silent_p.C1081C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1104	IPT/TIG 3.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCATGGTATGCCGCGCCCCGT	0.677																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3310-3312)tgC>tgT		plexin A1							47.0	48.0	48.0					3																	126736303		2203	4299	6502	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126736303C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3312C>T	3.37:g.126736303C>T						PLXNA1_ENST00000251772.4_Silent_p.C1081C	p.C1104C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	17	3312	+			1104			IPT/TIG 3.			Silent	SNP	ENST00000393409.2	37	c.3312C>T	CCDS33847.2																																																																																				0.677	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		5	372	0	0	0	1	0	5	372				
ZNF831	128611	broad.mit.edu	37	20	57766652	57766652	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:57766652C>T	ENST00000371030.2	+	1	578	c.578C>T	c.(577-579)aCg>aTg	p.T193M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	193							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACAGGCGGACGCAGACGCAC	0.662																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(577-579)aCg>aTg		zinc finger protein 831							48.0	56.0	54.0					20																	57766652		2055	4202	6257	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766652C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.578C>T	20.37:g.57766652C>T	ENSP00000360069:p.Thr193Met						p.T193M	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	578	+	all_lung(29;0.0085)		193					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.578C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690629	0.48097	.	.	ENSG00000124203	ENST00000371030	T	0.31510	1.49	5.41	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42832	0.1220	L	0.27053	0.805	0.41770	D	0.989768	D	0.89917	1.0	D	0.85130	0.997	T	0.45614	-0.9249	9	0.87932	D	0	-12.0165	14.5325	0.67936	0.1475:0.8525:0.0:0.0	.	193	Q5JPB2	ZN831_HUMAN	M	193	ENSP00000360069:T193M	ENSP00000360069:T193M	T	+	2	0	ZNF831	57200047	1.000000	0.71417	0.993000	0.49108	0.156000	0.22039	7.755000	0.85180	1.259000	0.44117	0.561000	0.74099	ACG		0.662	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		6	758	0	0	0	1	0	6	758				
SPPL2A	84888	broad.mit.edu	37	15	51012246	51012246	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:51012246T>C	ENST00000261854.5	-	14	1653	c.1379A>G	c.(1378-1380)aAg>aGg	p.K460R	SPPL2A_ENST00000559293.1_5'Flank	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	460					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		AGGTTGCCCCTTTTTCATCAG	0.408																																					Melanoma(50;790 1209 4069 22965 33125)	ENST00000261854.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(1378-1380)aAg>aGg		signal peptide peptidase like 2A							128.0	111.0	117.0					15																	51012246		2196	4294	6490	SO:0001583	missense	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51012246T>C		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.1379A>G	15.37:g.51012246T>C	ENSP00000261854:p.Lys460Arg						p.K460R	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	14	1653	-			460					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	c.1379A>G	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	T	5.356	0.250885	0.10130	.	.	ENSG00000138600	ENST00000261854	T	0.17054	2.3	5.66	4.52	0.55395	.	0.218396	0.51477	D	0.000088	T	0.06508	0.0167	N	0.04746	-0.17	0.20638	N	0.999871	P	0.41475	0.751	B	0.40982	0.345	T	0.14671	-1.0464	10	0.12766	T	0.61	-3.5127	1.9865	0.03437	0.2572:0.0784:0.1375:0.5268	.	460	Q8TCT8	PSL2_HUMAN	R	460	ENSP00000261854:K460R	ENSP00000261854:K460R	K	-	2	0	AC012100.1	48799538	1.000000	0.71417	0.976000	0.42696	0.949000	0.60115	2.041000	0.41213	0.955000	0.37878	0.477000	0.44152	AAG		0.408	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		6	437	0	0	0	1	0	6	437				
TECTA	7007	broad.mit.edu	37	11	120998885	120998885	+	Silent	SNP	C	C	T	rs397517145		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:120998885C>T	ENST00000392793.1	+	9	2470	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	TECTA_ENST00000264037.2_Silent_p.S733S			O75443	TECTA_HUMAN	tectorin alpha	733	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTTCCCCTCCGAGTTCTCCT	0.612																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2197-2199)tcC>tcT		tectorin alpha							99.0	89.0	93.0					11																	120998885		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998885C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2199C>T	11.37:g.120998885C>T						TECTA_ENST00000264037.2_Silent_p.S733S	p.S733S			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	9	2470	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	733			VWFD 2.			Silent	SNP	ENST00000392793.1	37	c.2199C>T	CCDS8434.1																																																																																				0.612	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		190	683	0	0	0	1	0	190	683				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	242	0	0	0	1	0	7	242				
PCDH9	5101	broad.mit.edu	37	13	67802512	67802512	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:67802512C>T	ENST00000377865.2	-	1	195	c.61G>A	c.(61-63)Gca>Aca	p.A21T	PCDH9_ENST00000377861.3_Missense_Mutation_p.A21T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A21T|PCDH9_ENST00000544246.1_Missense_Mutation_p.A21T|PCDH9_ENST00000456367.1_Missense_Mutation_p.A21T			Q9HC56	PCDH9_HUMAN	protocadherin 9	21					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A21T(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGAGCTATTGCGGAATCCAGC	0.383																																						ENST00000544246.1																			1	Substitution - Missense(1)	p.A21T(1)	endometrium(1)	breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(61-63)Gca>Aca		protocadherin 9							73.0	73.0	73.0					13																	67802512		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802512C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.61G>A	13.37:g.67802512C>T	ENSP00000367096:p.Ala21Thr					PCDH9_ENST00000377861.3_Missense_Mutation_p.A21T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A21T|PCDH9_ENST00000456367.1_Missense_Mutation_p.A21T|PCDH9_ENST00000377865.2_Missense_Mutation_p.A21T	p.A21T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	752	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	21					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.61G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463505	0.26248	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.54866	0.61;0.61;0.55;0.55;0.57	5.82	5.82	0.92795	.	0.104012	0.64402	D	0.000003	T	0.45657	0.1353	L	0.29908	0.895	0.45490	D	0.998456	B;B;B;B	0.21071	0.051;0.0;0.005;0.022	B;B;B;B	0.15870	0.006;0.0;0.014;0.006	T	0.23583	-1.0184	10	0.41790	T	0.15	.	20.1012	0.97876	0.0:1.0:0.0:0.0	.	21;21;21;21	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	T	21	ENSP00000442186:A21T;ENSP00000367096:A21T;ENSP00000401699:A21T;ENSP00000332060:A21T;ENSP00000367092:A21T	ENSP00000332060:A21T	A	-	1	0	PCDH9	66700513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.625000	0.61262	2.754000	0.94517	0.650000	0.86243	GCA		0.383	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		5	389	0	0	0	1	0	5	389				
PBXIP1	57326	broad.mit.edu	37	1	154918663	154918663	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:154918663T>A	ENST00000368463.3	-	10	1558	c.1487A>T	c.(1486-1488)gAa>gTa	p.E496V	PBXIP1_ENST00000539880.1_Missense_Mutation_p.E323V|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E467V|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E341V|PBXIP1_ENST00000498553.1_5'Flank	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	496					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCGGCCAGATTCTTCCTTCTT	0.572																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(1486-1488)gAa>gTa		pre-B-cell leukemia homeobox interacting protein 1							169.0	177.0	174.0					1																	154918663		2203	4300	6503	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154918663T>A	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1487A>T	1.37:g.154918663T>A	ENSP00000357448:p.Glu496Val					PBXIP1_ENST00000539880.1_Missense_Mutation_p.E323V|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E341V|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E467V	p.E496V	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1558	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		496					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.1487A>T	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	T	9.099	1.003675	0.19121	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.16743	2.33;2.32;2.4;2.35	5.0	-0.118	0.13547	.	0.910077	0.09504	N	0.793175	T	0.05868	0.0153	L	0.46157	1.445	0.25606	N	0.986545	P	0.49358	0.923	P	0.46110	0.504	T	0.18967	-1.0320	10	0.41790	T	0.15	-1.4959	1.4242	0.02319	0.1407:0.1709:0.1462:0.5422	.	496	Q96AQ6	PBIP1_HUMAN	V	467;496;496;323;272;341	ENSP00000357450:E467V;ENSP00000357448:E496V;ENSP00000440142:E323V;ENSP00000438584:E341V	ENSP00000295523:E496V	E	-	2	0	PBXIP1	153185287	0.002000	0.14202	0.074000	0.20217	0.034000	0.12701	-0.111000	0.10807	-0.172000	0.10779	-0.377000	0.06932	GAA		0.572	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		16	1839	0	0	0	1	0	16	1839				
DPY19L2P2	349152	broad.mit.edu	37	7	102912208	102912208	+	RNA	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:102912208C>T	ENST00000312132.4	-	0	2371							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CGTTTTACTGCATTAATTACA	0.333																																						ENST00000312132.4																			0																																																			0							g.chr7:102912208C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912208C>T														0	2371	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.333	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		8	356	0	0	0	1	0	8	356				
HIST1H2BK	85236	broad.mit.edu	37	6	27114417	27114417	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:27114417C>T	ENST00000356950.1	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.G54D			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAGGAGATGCCGGTGTCGGG	0.582																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(160-162)gGc>gAc		histone cluster 1, H2bk							106.0	96.0	99.0					6																	27114417		2203	4296	6499	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114417C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.161G>A	6.37:g.27114417C>T	ENSP00000349430:p.Gly54Asp					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G54D	p.G54D	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	202	-			54					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.161G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.382839	0.82792	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.69435	-0.4;-0.4	4.05	3.14	0.36123	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.84817	0.5556	H	0.98487	4.245	0.46317	D	0.998988	D	0.71674	0.998	D	0.72075	0.976	D	0.89042	0.3449	9	0.87932	D	0	.	11.8762	0.52548	0.0:0.821:0.179:0.0	.	54	O60814	H2B1K_HUMAN	D	54	ENSP00000380100:G54D;ENSP00000349430:G54D	ENSP00000349430:G54D	G	-	2	0	HIST1H2BK	27222396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.198000	0.65147	0.961000	0.38030	0.650000	0.86243	GGC		0.582	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		9	1121	0	0	0	1	0	9	1121				
DNTT	1791	broad.mit.edu	37	10	98097935	98097935	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:98097935C>T	ENST00000371174.2	+	11	1586	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	DNTT_ENST00000419175.1_Missense_Mutation_p.A494V			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	495	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAATTTTTGCGCATCTGGGA	0.333																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(1480-1482)gCg>gTg		DNA nucleotidylexotransferase							119.0	118.0	119.0					10																	98097935		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98097935C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1484C>T	10.37:g.98097935C>T	ENSP00000360216:p.Ala495Val					DNTT_ENST00000371174.2_Missense_Mutation_p.A495V	p.A494V	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	11	1651	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	495			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.1481C>T	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821842	0.50633	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.47528	0.84;0.84	5.37	5.37	0.77165	DNA-directed DNA polymerase X (1);	0.146062	0.47093	D	0.000248	T	0.43612	0.1255	M	0.85197	2.74	0.38160	D	0.938996	P;P	0.48640	0.913;0.859	B;B	0.28784	0.094;0.043	T	0.57154	-0.7860	10	0.30854	T	0.27	-0.4285	11.9763	0.53094	0.1731:0.8269:0.0:0.0	.	494;495	P04053-2;P04053	.;TDT_HUMAN	V	494;495	ENSP00000401169:A494V;ENSP00000360216:A495V	ENSP00000360216:A495V	A	+	2	0	DNTT	98087925	0.997000	0.39634	1.000000	0.80357	0.946000	0.59487	2.398000	0.44486	2.679000	0.91253	0.655000	0.94253	GCG		0.333	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		5	438	0	0	0	1	0	5	438				
ALPPL2	251	broad.mit.edu	37	2	233273223	233273223	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:233273223G>A	ENST00000295453.3	+	7	848	c.796G>A	c.(796-798)Gtg>Atg	p.V266M		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	266					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	TGCCCGGTACGTGTGGAACCG	0.677																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(796-798)Gtg>Atg		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						83.0	77.0	79.0					2																	233273223		2201	4283	6484	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233273223G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.796G>A	2.37:g.233273223G>A	ENSP00000295453:p.Val266Met						p.V266M	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	7	848	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	266					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.796G>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	17.79	3.475270	0.63737	.	.	ENSG00000163286	ENST00000295453	D	0.98313	-4.86	3.37	3.37	0.38596	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	H	0.97587	4.035	0.51233	D	0.99991	D	0.89917	1.0	D	0.83275	0.996	D	0.98561	1.0641	10	0.87932	D	0	.	15.0806	0.72110	0.0:0.0:1.0:0.0	.	266	P10696	PPBN_HUMAN	M	266	ENSP00000295453:V266M	ENSP00000295453:V266M	V	+	1	0	ALPPL2	232981467	1.000000	0.71417	0.667000	0.29798	0.103000	0.19146	4.761000	0.62243	1.572000	0.49736	0.411000	0.27672	GTG		0.677	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		91	876	0	0	0	1	0	91	876				
TCERG1	10915	broad.mit.edu	37	5	145826931	145826931	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:145826931G>T	ENST00000296702.5	+	1	57	c.19G>T	c.(19-21)Gac>Tac	p.D7Y	TCERG1_ENST00000394421.2_Missense_Mutation_p.D7Y	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	7					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGTGGCGGGGACGGGGGCGA	0.617											OREG0016896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(19-21)Gac>Tac		transcription elongation regulator 1							27.0	28.0	28.0					5																	145826931		2202	4299	6501	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145826931G>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.19G>T	5.37:g.145826931G>T	ENSP00000296702:p.Asp7Tyr		OREG0016896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1697	TCERG1_ENST00000394421.2_Missense_Mutation_p.D7Y	p.D7Y	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	57	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	7					Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.19G>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985832	0.53934	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.25414	1.8;1.8	5.03	5.03	0.67393	.	0.231983	0.38837	N	0.001560	T	0.19685	0.0473	N	0.14661	0.345	0.35204	D	0.774513	P;P;P	0.50943	0.94;0.902;0.842	B;P;B	0.47981	0.36;0.563;0.36	T	0.12116	-1.0560	10	0.72032	D	0.01	-11.5435	9.5825	0.39497	0.0931:0.0:0.9069:0.0	.	7;7;7	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	Y	7	ENSP00000296702:D7Y;ENSP00000377943:D7Y	ENSP00000296702:D7Y	D	+	1	0	TCERG1	145807124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.332000	0.52083	2.782000	0.95742	0.655000	0.94253	GAC		0.617	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		6	104	1	0	0.000157383	1	0.000164878	6	104				
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	323	EamA 2.					integral component of membrane (GO:0016021)		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.I323I(1)	lung(1)								c.(967-969)atT>atC		solute carrier family 35, member G3																																				SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520358A>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.969T>C	17.37:g.33520358A>G							p.I323I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1054	-			323			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.969T>C	CCDS11293.1																																																																																				0.547	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		6	568	0	0	0	1	0	6	568				
FAT1	2195	broad.mit.edu	37	4	187629556	187629556	+	Missense_Mutation	SNP	C	C	T	rs374511634		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:187629556C>T	ENST00000441802.2	-	2	1635	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	476	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCAATGGGCACGTTCTCATCA	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(1426-1428)Gtg>Atg		FAT atypical cadherin 1		C	MET/VAL	1,4055		0,1,2027	159.0	154.0	156.0		1426	4.6	0.4	4		156	0,8374		0,0,4187	no	missense	FAT1	NM_005245.3	21	0,1,6214	TT,TC,CC		0.0,0.0247,0.0080	benign	476/4589	187629556	1,12429	2028	4187	6215	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629556C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1426G>A	4.37:g.187629556C>T	ENSP00000406229:p.Val476Met	HNSCC(5;0.00058)					p.V476M	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	1635	-			476			Cadherin 4.			Missense_Mutation	SNP	ENST00000441802.2	37	c.1426G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	6.902	0.536012	0.13188	2.47E-4	0.0	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.61274	0.65;0.12	5.45	4.61	0.57282	Cadherin (4);Cadherin-like (1);	0.247216	0.41194	D	0.000928	T	0.49098	0.1537	L	0.56396	1.775	0.28076	N	0.932393	P	0.34724	0.465	B	0.29785	0.107	T	0.51911	-0.8645	10	0.46703	T	0.11	.	9.1518	0.36967	0.1454:0.7818:0.0:0.0729	.	476	Q14517	FAT1_HUMAN	M	476	ENSP00000406229:V476M;ENSP00000423736:V476M	ENSP00000260147:V476M	V	-	1	0	FAT1	187866550	0.512000	0.26186	0.440000	0.26846	0.186000	0.23388	1.869000	0.39519	1.538000	0.49270	0.561000	0.74099	GTG		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		6	840	0	0	0	1	0	6	840				
POU4F3	5459	broad.mit.edu	37	5	145719395	145719395	+	Silent	SNP	G	G	A	rs145372405	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:145719395G>A	ENST00000230732.4	+	2	494	c.405G>A	c.(403-405)ccG>ccA	p.P135P	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	135					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGCGCTCCGGAACACTCGG	0.687																																						ENST00000230732.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(403-405)ccG>ccA		POU class 4 homeobox 3		G		1,4405	2.1+/-5.4	0,1,2202	58.0	58.0	58.0		405	-4.4	1.0	5	dbSNP_134	58	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	POU4F3	NM_002700.2		0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154		135/339	145719395	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719395G>A	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.405G>A	5.37:g.145719395G>A						CTC-359M8.1_ENST00000515598.1_RNA	p.P135P	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	494	+			135					O60557|Q2M3F8	Silent	SNP	ENST00000230732.4	37	c.405G>A	CCDS4281.1																																																																																				0.687	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		33	321	0	0	0	1	0	33	321				
CAPN6	827	broad.mit.edu	37	X	110494868	110494868	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:110494868G>T	ENST00000324068.1	-	6	969	c.802C>A	c.(802-804)Ctt>Att	p.L268I	CAPN6_ENST00000541758.1_Missense_Mutation_p.L13I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	268	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACTTCCACAAGTCTCTCTCCA	0.488																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(802-804)Ctt>Att		calpain 6							279.0	277.0	278.0					X																	110494868		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494868G>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.802C>A	X.37:g.110494868G>T	ENSP00000317214:p.Leu268Ile					CAPN6_ENST00000541758.1_Missense_Mutation_p.L13I	p.L268I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			6	969	-			268			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.802C>A	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074557	0.76415	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.90444	-2.67;-2.28	6.17	5.31	0.75309	Peptidase C2, calpain, catalytic domain (3);	0.072434	0.56097	D	0.000033	D	0.92496	0.7617	L	0.58428	1.81	0.47276	D	0.999375	D	0.60575	0.988	P	0.61722	0.893	D	0.91917	0.5544	10	0.52906	T	0.07	.	9.6606	0.39952	0.0718:0.0:0.7883:0.1398	.	268	Q9Y6Q1	CAN6_HUMAN	I	268;13	ENSP00000317214:L268I;ENSP00000441736:L13I	ENSP00000317214:L268I	L	-	1	0	CAPN6	110381524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.051000	0.49885	1.355000	0.45865	0.600000	0.82982	CTT		0.488	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			29	3209	1	0	0.0135373	1	0.013788	29	3209				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			5	215	0	0	0	1	0	5	215				
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	rs375936006		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142.0	127.0	132.0					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		6	811	0	0	0	1	0	6	811				
DMGDH	29958	broad.mit.edu	37	5	78325780	78325780	+	Silent	SNP	A	A	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:78325780A>C	ENST00000255189.3	-	11	1789	c.1761T>G	c.(1759-1761)tcT>tcG	p.S587S	DMGDH_ENST00000380311.4_Silent_p.S386S|DMGDH_ENST00000540686.1_Silent_p.S207S	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	587					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACTCCCCAGGAGATTGGTGAG	0.353																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1759-1761)tcT>tcG		dimethylglycine dehydrogenase							72.0	75.0	74.0					5																	78325780		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78325780A>C	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1761T>G	5.37:g.78325780A>C						DMGDH_ENST00000540686.1_Silent_p.S207S|DMGDH_ENST00000380311.4_Silent_p.S386S	p.S587S	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	11	1789	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	587					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.1761T>G	CCDS4044.1																																																																																				0.353	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		6	251	0	0	0	1	0	6	251				
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38.0	34.0	36.0					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		7	431	0	0	0	1	0	7	431				
ABCA10	10349	broad.mit.edu	37	17	67144973	67144973	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:67144973G>A	ENST00000269081.4	-	40	5536	c.4627C>T	c.(4627-4629)Cct>Tct	p.P1543S	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1543					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCATTTTAAGGGTCTTCCTGT	0.338																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(4627-4629)Cct>Tct		ATP-binding cassette, sub-family A (ABC1), member 10							82.0	85.0	84.0					17																	67144973		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67144973G>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4627C>T	17.37:g.67144973G>A	ENSP00000269081:p.Pro1543Ser					ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	p.P1543S	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			40	5536	-	Breast(10;6.95e-12)		1543					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.4627C>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225136	0.39300	.	.	ENSG00000154263	ENST00000269081	D	0.88586	-2.4	3.81	0.564	0.17302	.	.	.	.	.	D	0.88295	0.6398	L	0.29908	0.895	0.19775	N	0.999955	D;D	0.76494	0.994;0.999	P;D	0.69142	0.878;0.962	T	0.77186	-0.2680	9	0.87932	D	0	.	5.6355	0.17534	0.3789:0.0:0.6211:0.0	.	535;1543	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	S	1543	ENSP00000269081:P1543S	ENSP00000269081:P1543S	P	-	1	0	ABCA10	64656568	0.128000	0.22383	0.004000	0.12327	0.010000	0.07245	0.205000	0.17356	0.216000	0.20781	-0.267000	0.10333	CCT		0.338	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		13	276	0	0	0	1	0	13	276				
LRRC43	254050	broad.mit.edu	37	12	122669269	122669269	+	Silent	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:122669269G>T	ENST00000339777.4	+	2	382	c.354G>T	c.(352-354)acG>acT	p.T118T	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	118										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		ACCCGCTGACGATCACAGACA	0.582																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(352-354)acG>acT		leucine rich repeat containing 43							42.0	43.0	43.0					12																	122669269		2005	4166	6171	SO:0001819	synonymous_variant	254050							g.chr12:122669269G>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.354G>T	12.37:g.122669269G>T						LRRC43_ENST00000425921.1_5'UTR	p.T118T	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	2	382	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		118					Q6ZVT9	Silent	SNP	ENST00000339777.4	37	c.354G>T	CCDS45001.1																																																																																				0.582	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		16	124	1	0	6.72482e-11	1	7.3605e-11	16	124				
DNM1P47	100216544	broad.mit.edu	37	15	102292811	102292811	+	RNA	SNP	C	C	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:102292811C>A	ENST00000561463.1	+	0	857									DNM1 pseudogene 47									p.R133R(1)									CCTGCACTCGCGTGGGAACGA	0.607																																						ENST00000561463.1																			1	Substitution - coding silent(1)	p.R133R(1)	prostate(1)																																																0							g.chr15:102292811C>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292811C>A														0	857	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.607	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	209	1	0	0.00010058	1	0.000105874	5	209				
ZNF576	79177	broad.mit.edu	37	19	44103397	44103397	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:44103397G>A	ENST00000336564.4	+	3	654	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	ZNF576_ENST00000528387.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000525771.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000391965.2_Missense_Mutation_p.R167Q|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000533118.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000529930.1_Missense_Mutation_p.R167Q|SRRM5_ENST00000607544.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	167					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				CGGCATGCCCGGGGGGAGCTC	0.622																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(499-501)cGg>cAg		zinc finger protein 576							29.0	26.0	27.0					19																	44103397		2203	4299	6502	SO:0001583	missense	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103397G>A	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.500G>A	19.37:g.44103397G>A	ENSP00000337852:p.Arg167Gln					ZNF576_ENST00000533118.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000391965.2_Missense_Mutation_p.R167Q|ZNF576_ENST00000529930.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000528387.1_Missense_Mutation_p.R167Q|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000525771.1_Missense_Mutation_p.R167Q|SRRM5_ENST00000607544.1_Intron	p.R167Q	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	654	+		Prostate(69;0.0199)	167					Q9BU03	Missense_Mutation	SNP	ENST00000336564.4	37	c.500G>A	CCDS12625.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013050	0.75161	.	.	ENSG00000124444	ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564	T;T;T;T;T;T	0.01347	4.99;4.99;4.99;4.99;4.99;4.99	4.04	3.01	0.34805	Zinc finger, C2H2 (1);	0.190264	0.34580	N	0.003841	T	0.01189	0.0039	L	0.41236	1.265	0.80722	D	1	P	0.47106	0.89	B	0.31547	0.132	T	0.67738	-0.5593	10	0.66056	D	0.02	-20.071	7.5009	0.27518	0.1158:0.0:0.8842:0.0	.	167	Q9H609	ZN576_HUMAN	Q	167	ENSP00000375827:R167Q;ENSP00000436182:R167Q;ENSP00000435899:R167Q;ENSP00000435934:R167Q;ENSP00000435463:R167Q;ENSP00000337852:R167Q	ENSP00000337852:R167Q	R	+	2	0	ZNF576	48795237	0.064000	0.20934	0.993000	0.49108	0.676000	0.39594	1.784000	0.38674	1.306000	0.44926	0.655000	0.94253	CGG		0.622	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		13	252	0	0	0	1	0	13	252				
CHD3	1107	broad.mit.edu	37	17	7812062	7812062	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:7812062C>T	ENST00000330494.7	+	36	5459	c.5309C>T	c.(5308-5310)gCc>gTc	p.A1770V	SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.A1736V|CHD3_ENST00000380358.4_Missense_Mutation_p.A1829V	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1770	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCTCAATTTGCCATTATCAAC	0.463																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(5485-5487)gCc>gTc		chromodomain helicase DNA binding protein 3							151.0	149.0	150.0					17																	7812062		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7812062C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5309C>T	17.37:g.7812062C>T	ENSP00000332628:p.Ala1770Val					CHD3_ENST00000358181.4_Missense_Mutation_p.A1736V|CHD3_ENST00000330494.7_Missense_Mutation_p.A1770V	p.A1829V	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			36	5487	+		Prostate(122;0.202)	1770			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.5486C>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823177	0.50739	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235;ENST00000449744	D;D;D	0.90844	-2.74;-2.67;-2.68	4.78	4.78	0.61160	CHD, C-terminal 2 (1);	0.000000	0.44902	D	0.000410	D	0.91570	0.7337	L	0.45581	1.43	0.58432	D	0.999999	B;B;B;P	0.40302	0.316;0.057;0.096;0.712	B;B;B;P	0.54499	0.23;0.113;0.173;0.754	D	0.91066	0.4889	10	0.51188	T	0.08	-15.3285	11.8981	0.52667	0.0:0.9084:0.0:0.0916	.	347;1736;1770;1829	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	V	1829;1736;1770;98;62	ENSP00000369716:A1829V;ENSP00000350907:A1736V;ENSP00000332628:A1770V	ENSP00000332628:A1770V	A	+	2	0	CHD3	7752787	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.127000	0.42035	2.480000	0.83734	0.561000	0.74099	GCC		0.463	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		7	1351	0	0	0	1	0	7	1351				
UNC79	57578	broad.mit.edu	37	14	94038340	94038340	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:94038340C>A	ENST00000393151.2	+	15	1856	c.1856C>A	c.(1855-1857)tCt>tAt	p.S619Y	UNC79_ENST00000553484.1_Missense_Mutation_p.S619Y|UNC79_ENST00000256339.4_Missense_Mutation_p.S442Y|UNC79_ENST00000555664.1_Missense_Mutation_p.S619Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	619					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCAATCAATCTGTCTGGGAG	0.458																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1855-1857)tCt>tAt		unc-79 homolog (C. elegans)							89.0	85.0	87.0					14																	94038340		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94038340C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1856C>A	14.37:g.94038340C>A	ENSP00000376858:p.Ser619Tyr					UNC79_ENST00000393151.2_Missense_Mutation_p.S619Y|UNC79_ENST00000256339.4_Missense_Mutation_p.S442Y|UNC79_ENST00000555664.1_Missense_Mutation_p.S619Y	p.S619Y			Q9P2D8	UNC79_HUMAN			15	2010	+			619					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1856C>A		.	.	.	.	.	.	.	.	.	.	C	17.14	3.312739	0.60414	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.83	5.83	0.93111	.	0.131908	0.49916	D	0.000137	T	0.11452	0.0279	N	0.08118	0	0.37678	D	0.923394	P	0.41569	0.755	B	0.34301	0.179	T	0.13229	-1.0517	10	0.72032	D	0.01	-12.7204	14.9138	0.70778	0.1431:0.8569:0.0:0.0	.	619	C9JQL1	.	Y	442;619;619;619;619	ENSP00000256339:S442Y;ENSP00000450868:S619Y;ENSP00000451360:S619Y;ENSP00000376858:S619Y	ENSP00000256339:S442Y	S	+	2	0	KIAA1409	93108093	1.000000	0.71417	0.986000	0.45419	0.820000	0.46376	5.662000	0.68032	2.766000	0.95052	0.650000	0.86243	TCT		0.458	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		12	343	1	0	6.40141e-05	1	6.80343e-05	12	343				
ZNF462	58499	broad.mit.edu	37	9	109686870	109686870	+	Missense_Mutation	SNP	G	G	A	rs374076395		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:109686870G>A	ENST00000277225.5	+	3	966	c.677G>A	c.(676-678)cGc>cAc	p.R226H	ZNF462_ENST00000457913.1_Missense_Mutation_p.R226H|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	226					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTTGTGGAGCGCAGCATCTTA	0.582																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(676-678)cGc>cAc		zinc finger protein 462		G	HIS/ARG	0,4406		0,0,2203	61.0	60.0	60.0		677	5.8	1.0	9		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF462	NM_021224.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	226/2507	109686870	1,13005	2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109686870G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.677G>A	9.37:g.109686870G>A	ENSP00000277225:p.Arg226His					ZNF462_ENST00000457913.1_Missense_Mutation_p.R226H	p.R226H			Q96JM2	ZN462_HUMAN			3	966	+			226					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.677G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176741	0.57692	0.0	1.16E-4	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.08102	3.13;3.58	5.82	5.82	0.92795	.	0.117145	0.64402	D	0.000013	T	0.19805	0.0476	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.94	T	0.01249	-1.1406	9	.	.	.	.	20.0893	0.97812	0.0:0.0:1.0:0.0	.	226;226	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	H	226	ENSP00000277225:R226H;ENSP00000414570:R226H	.	R	+	2	0	ZNF462	108726691	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.515000	0.67049	2.761000	0.94854	0.655000	0.94253	CGC		0.582	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		6	364	0	0	0	1	0	6	364				
TRPM4	54795	broad.mit.edu	37	19	49714750	49714750	+	Splice_Site	SNP	G	G	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:49714750G>C	ENST00000252826.5	+	25	3766		c.e25-1		TRPM4_ENST00000427978.2_Splice_Site|TRPM4_ENST00000355712.5_Splice_Site	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4						calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCTTCCCCCAGACTGAGCCCT	0.567																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.e25-1		transient receptor potential cation channel, subfamily M, member 4							116.0	127.0	123.0					19																	49714750		2203	4300	6503	SO:0001630	splice_region_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49714750G>C	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3641-1G>C	19.37:g.49714750G>C						TRPM4_ENST00000355712.5_Splice_Site|TRPM4_ENST00000427978.2_Splice_Site		NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	25	3766	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)						A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Splice_Site	SNP	ENST00000252826.5	37		CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130328	0.37630	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1224	0.65198	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRPM4	54406562	1.000000	0.71417	0.993000	0.49108	0.377000	0.30045	2.826000	0.48104	2.494000	0.84150	0.655000	0.94253	.		0.567	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636	Intron	9	1132	0	0	0	1	0	9	1132				
SON	6651	broad.mit.edu	37	21	34923961	34923961	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:34923961C>T	ENST00000356577.4	+	3	2899	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.T808T|SON_ENST00000300278.4_Silent_p.T808T|SON_ENST00000381679.4_Silent_p.T808T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	808	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T808T(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTAGCAACCAGCTCCATGG	0.512																																						ENST00000356577.4																			2	Substitution - coding silent(2)	p.T808T(2)	endometrium(2)	breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2422-2424)acC>acT		SON DNA binding protein							132.0	132.0	132.0					21																	34923961		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923961C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2424C>T	21.37:g.34923961C>T						SON_ENST00000381679.4_Silent_p.T808T|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.T808T|SON_ENST00000300278.4_Silent_p.T808T	p.T808T	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	2899	+			808			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.2424C>T	CCDS13629.1																																																																																				0.512	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		8	1430	0	0	0	1	0	8	1430				
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"""CLL, MDS"""																																	ENST00000291552.4				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"""CLL, MDS"""		57	Substitution - Missense(57)	p.S34F(45)|p.S34Y(12)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(100-102)tCt>tTt		U2 small nuclear RNA auxiliary factor 1		G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67.0	64.0	65.0		101,101,	5.5	1.0	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe					U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	p.S34F	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN			2	193	-			34					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		24	232	0	0	0	1	0	24	232				
KCNE1L	23630	broad.mit.edu	37	X	108868206	108868206	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:108868206C>T	ENST00000372101.2	-	1	187	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	15					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GAGCAACAGGCGGCTCAGAAG	0.682																																						ENST00000372101.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(43-45)cGc>cAc		KCNE1-like							11.0	12.0	12.0					X																	108868206		2163	4218	6381	SO:0001583	missense	23630				regulation of heart contraction	voltage-gated potassium channel complex		g.chrX:108868206C>T	AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076		"""Potassium channels"""	6241	protein-coding gene	gene with protein product		300328	"""potassium voltage-gated channel, Isk-related family, member 1-like"""			10493825	Standard	NM_012282		Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.44G>A	X.37:g.108868206C>T	ENSP00000361173:p.Arg15His					RP1-136J15.3_ENST00000439581.1_RNA	p.R15H	NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN			1	187	-			15						Missense_Mutation	SNP	ENST00000372101.2	37	c.44G>A	CCDS14547.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906858	0.52333	.	.	ENSG00000176076	ENST00000372101	T	0.71817	-0.6	4.74	1.66	0.24008	.	0.242758	0.27437	N	0.019376	T	0.41880	0.1178	N	0.08118	0	0.28357	N	0.920618	B	0.13145	0.007	B	0.10450	0.005	T	0.21861	-1.0233	10	0.48119	T	0.1	-25.7468	0.7581	0.01002	0.1549:0.2966:0.2664:0.2821	.	15	Q9UJ90	KCE1L_HUMAN	H	15	ENSP00000361173:R15H	ENSP00000361173:R15H	R	-	2	0	KCNE1L	108754862	0.985000	0.35326	0.988000	0.46212	0.851000	0.48451	0.065000	0.14466	0.476000	0.27440	0.523000	0.50628	CGC		0.682	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057892.1	NM_012282		6	146	0	0	0	1	0	6	146				
NTRK2	4915	broad.mit.edu	37	9	87338511	87338511	+	Missense_Mutation	SNP	G	G	A	rs117250170		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:87338511G>A	ENST00000323115.4	+	6	960	c.607G>A	c.(607-609)Gca>Aca	p.A203T	NTRK2_ENST00000277120.3_Missense_Mutation_p.A203T|NTRK2_ENST00000304053.6_Missense_Mutation_p.A203T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A203T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A203T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A203T|NTRK2_ENST00000395866.2_Missense_Mutation_p.A47T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A203T|NTRK2_ENST00000395882.1_Missense_Mutation_p.A203T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	203	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AAATCTGGCCGCACCTAACCT	0.398										TSP Lung(25;0.17)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18578	0.0		0.001	False		,,,				2504	0.0					ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(607-609)Gca>Aca		neurotrophic tyrosine kinase, receptor, type 2		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	179.0	153.0	162.0		607,607,607,607,607	4.5	0.9	9	dbSNP_132	162	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense,missense,missense	NTRK2	NM_001007097.1,NM_001018064.1,NM_001018065.2,NM_001018066.2,NM_006180.3	58,58,58,58,58	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	benign,benign,benign,benign,benign	203/478,203/823,203/554,203/538,203/839	87338511	7,12999	2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87338511G>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.607G>A	9.37:g.87338511G>A	ENSP00000314586:p.Ala203Thr	TSP Lung(25;0.17)				NTRK2_ENST00000395866.2_Missense_Mutation_p.A47T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A203T|NTRK2_ENST00000323115.4_Missense_Mutation_p.A203T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A203T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A203T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A203T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A203T|NTRK2_ENST00000395882.1_Missense_Mutation_p.A203T	p.A203T	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN			7	1090	+			203			Ig-like C2-type 1.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.607G>A	CCDS35050.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.40	1.340322	0.24339	2.27E-4	6.98E-4	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.64	4.52	0.55395	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.177702	0.49916	D	0.000137	T	0.12050	0.0293	N	0.01438	-0.865	0.27631	N	0.948042	B;B;B;B;B;B;B;B	0.29936	0.029;0.013;0.013;0.016;0.001;0.005;0.262;0.013	B;B;B;B;B;B;B;B	0.17722	0.019;0.009;0.009;0.016;0.004;0.004;0.019;0.009	T	0.13656	-1.0501	10	0.15952	T	0.53	.	4.7532	0.13071	0.2675:0.0:0.7325:0.0	.	47;203;203;203;203;203;249;203	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	T	203;203;203;203;203;203;203;203;47	ENSP00000365387:A203T;ENSP00000365386:A203T;ENSP00000379221:A203T;ENSP00000365381:A203T;ENSP00000306167:A203T;ENSP00000277120:A203T;ENSP00000314586:A203T;ENSP00000352906:A203T;ENSP00000379207:A47T	ENSP00000277120:A203T	A	+	1	0	NTRK2	86528331	0.010000	0.17322	0.901000	0.35422	0.850000	0.48378	1.337000	0.33862	2.807000	0.96579	0.591000	0.81541	GCA		0.398	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			5	394	0	0	0	1	0	5	394				
ADCY6	112	broad.mit.edu	37	12	49164673	49164673	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:49164673G>A	ENST00000307885.4	-	19	3826	c.3132C>T	c.(3130-3132)aaC>aaT	p.N1044N	MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Silent_p.N991N|ADCY6_ENST00000357869.3_Silent_p.N991N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1044					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)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|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)|negative regulation of neuron projection development (GO:0010977)|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)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.N1044N(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGTGCTGGCGTTCAGCCCTG	0.567																																						ENST00000307885.4																			1	Substitution - coding silent(1)	p.N1044N(1)	endometrium(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(3130-3132)aaC>aaT		adenylate cyclase 6							114.0	96.0	102.0					12																	49164673		2203	4300	6503	SO:0001819	synonymous_variant	112				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	ATP binding|metal ion binding	g.chr12:49164673G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.3132C>T	12.37:g.49164673G>A						ADCY6_ENST00000550422.1_Silent_p.N991N|ADCY6_ENST00000357869.3_Silent_p.N991N	p.N1044N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			19	3826	-			1044					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.3132C>T	CCDS8767.1																																																																																				0.567	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		5	427	0	0	0	1	0	5	427				
LCP1	3936	broad.mit.edu	37	13	46718595	46718595	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:46718595C>T	ENST00000398576.2	-	14	1623	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	LCP1_ENST00000323076.2_Missense_Mutation_p.R412Q|LCP1_ENST00000435666.2_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	412	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ATGATTGACTCGAGGGTTAAC	0.423			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1234-1236)cGa>cAa		lymphocyte cytosolic protein 1 (L-plastin)							129.0	119.0	122.0					13																	46718595		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46718595C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1235G>A	13.37:g.46718595C>T	ENSP00000381581:p.Arg412Gln					LCP1_ENST00000323076.2_Missense_Mutation_p.R412Q	p.R412Q			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	14	1623	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	412			Actin-binding 2.|CH 3.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1235G>A	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492704	0.64074	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.94828	-3.53;-3.53	5.91	5.07	0.68467	Calponin homology domain (5);	0.117460	0.64402	N	0.000014	D	0.89969	0.6869	L	0.33624	1.015	0.80722	D	1	P	0.39060	0.657	B	0.35353	0.201	D	0.88903	0.3354	10	0.37606	T	0.19	-1.5	14.0981	0.65037	0.0:0.9281:0.0:0.0719	.	412	P13796	PLSL_HUMAN	Q	412	ENSP00000315757:R412Q;ENSP00000381581:R412Q	ENSP00000315757:R412Q	R	-	2	0	LCP1	45616596	0.989000	0.36119	0.995000	0.50966	0.996000	0.88848	2.576000	0.46033	1.507000	0.48752	0.555000	0.69702	CGA		0.423	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		15	345	0	0	0	1	0	15	345				
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	A	G	rs551614044	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:39296152A>G	ENST00000345847.4	-	1	587	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	196						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597													a|||	234	0.0467252	0.0726	0.0504	5008	,	,		18042	0.0179		0.0298	False		,,,				2504	0.0562					ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(586-588)cgT>cgC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296152A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.588T>C	17.37:g.39296152A>G							p.R196R	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	587	-			192					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.588T>C	CCDS54125.1																																																																																				0.597	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			11	58	0	0	0	1	0	11	58				
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCTGGATAAATATGGAAGCGT	0.343																																						ENST00000312132.4																			0																																																			0							g.chr7:102912190T>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912190T>G														0	2389	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.343	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		7	345	0	0	0	1	0	7	345				
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522																																						ENST00000567960.1																			1	Substitution - coding silent(1)	p.T398T(1)	kidney(1)																																																0							g.chr16:90162462A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162462A>G						TUBB8P7_ENST00000564451.1_RNA								0	1198	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	685	0	0	0	1	0	7	685				
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	RNA	SNP	C	C	T	rs199688784	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:141070687C>T	ENST00000503395.1	+	0	1462									tubulin, beta pseudogene 5																		ACAACTGGGCCAAGGGACGCT	0.577																																						ENST00000503395.1																			0																																																			0							g.chr9:141070687C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070687C>T														0	1462	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.577	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		8	138	0	0	0	1	0	8	138				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	231	0	0	0	1	0	6	231				
CSRNP3	80034	broad.mit.edu	37	2	166514474	166514474	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:166514474C>T	ENST00000342316.4	+	3	624	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	CSRNP3_ENST00000314499.7_Missense_Mutation_p.R118W|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R150W	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	118					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GAGGCTCCACCGGGAGATGTT	0.507																																						ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(352-354)Cgg>Tgg		cysteine-serine-rich nuclear protein 3							52.0	47.0	48.0					2																	166514474		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166514474C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.352C>T	2.37:g.166514474C>T	ENSP00000344042:p.Arg118Trp					CSRNP3_ENST00000342316.4_Missense_Mutation_p.R118W|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R150W	p.R118W	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			5	728	+			118					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.352C>T	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553765	0.65425	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	5.44	3.43	0.39272	.	0.108850	0.64402	D	0.000015	T	0.32704	0.0838	L	0.59912	1.85	0.43160	D	0.994949	D	0.71674	0.998	P	0.59643	0.861	T	0.14172	-1.0482	10	0.56958	D	0.05	-9.7028	14.2181	0.65807	0.3795:0.6205:0.0:0.0	.	118	Q8WYN3	CSRN3_HUMAN	W	118;125;118;118;118;150	ENSP00000412081:R118W;ENSP00000318258:R118W;ENSP00000386278:R118W;ENSP00000344042:R118W;ENSP00000387195:R150W	ENSP00000318258:R118W	R	+	1	2	CSRNP3	166222720	1.000000	0.71417	0.999000	0.59377	0.583000	0.36354	2.123000	0.41996	1.263000	0.44181	0.563000	0.77884	CGG		0.507	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		25	245	0	0	0	1	0	25	245				
NCOA6	23054	broad.mit.edu	37	20	33345756	33345756	+	Silent	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:33345756T>C	ENST00000374796.2	-	8	3365	c.795A>G	c.(793-795)caA>caG	p.Q265Q	NCOA6_ENST00000359003.2_Silent_p.Q265Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	265	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.Q265Q(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						gttgttgttgttgctgctgct	0.537																																						ENST00000374796.2																			1	Substitution - coding silent(1)	p.Q265Q(1)	central_nervous_system(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.(793-795)caA>caG		nuclear receptor coactivator 6							62.0	52.0	55.0					20																	33345756		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.chr20:33345756T>C	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.795A>G	20.37:g.33345756T>C						NCOA6_ENST00000359003.2_Silent_p.Q265Q	p.Q265Q			Q14686	NCOA6_HUMAN			8	3365	-			265			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.795A>G	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		8	347	0	0	0	1	0	8	347				
STX11	8676	broad.mit.edu	37	6	144508554	144508554	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:144508554C>T	ENST00000367568.4	+	2	973	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	264	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GGCGCAGGTGCGGAAGGCCGT	0.662									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(790-792)Cgg>Tgg		syntaxin 11							53.0	42.0	46.0					6																	144508554		2203	4300	6503	SO:0001583	missense	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508554C>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.790C>T	6.37:g.144508554C>T	ENSP00000356540:p.Arg264Trp						p.R264W	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	973	+			264			t-SNARE coiled-coil homology.		E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.790C>T	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859393	0.71834	.	.	ENSG00000135604	ENST00000367568	T	0.46819	0.86	5.72	-0.0131	0.13985	Target SNARE coiled-coil domain (3);	0.166104	0.50627	D	0.000102	T	0.54498	0.1862	M	0.81341	2.54	0.41833	D	0.990089	D	0.76494	0.999	D	0.66979	0.948	T	0.62627	-0.6814	10	0.87932	D	0	-8.3158	11.0735	0.48016	0.6554:0.252:0.0926:0.0	.	264	O75558	STX11_HUMAN	W	264	ENSP00000356540:R264W	ENSP00000356540:R264W	R	+	1	2	STX11	144550247	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.975000	0.40569	0.045000	0.15804	0.655000	0.94253	CGG		0.662	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			31	214	0	0	0	1	0	31	214				
NUDC	10726	broad.mit.edu	37	1	27269375	27269375	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:27269375T>C	ENST00000321265.5	+	6	683	c.560T>C	c.(559-561)tTc>tCc	p.F187S		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	187	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GCGGTCCCTTTCTGTGTGAAC	0.617																																						ENST00000321265.5																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8						c.(559-561)tTc>tCc		nudC nuclear distribution protein							47.0	45.0	46.0					1																	27269375		2203	4300	6503	SO:0001583	missense	10726				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding	g.chr1:27269375T>C		CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.560T>C	1.37:g.27269375T>C	ENSP00000319664:p.Phe187Ser						p.F187S	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)	6	683	+			187			CS.		Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Missense_Mutation	SNP	ENST00000321265.5	37	c.560T>C	CCDS292.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.450465	0.63290	.	.	ENSG00000090273	ENST00000435827;ENST00000321265	T	0.76578	-1.03	5.37	5.37	0.77165	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.84624	0.5513	M	0.73962	2.25	0.80722	D	1	P;P	0.49090	0.919;0.732	P;P	0.54499	0.754;0.551	D	0.86304	0.1682	10	0.59425	D	0.04	-1.6956	15.4283	0.75072	0.0:0.0:0.0:1.0	.	138;187	Q9H2R7;Q9Y266	.;NUDC_HUMAN	S	191;187	ENSP00000319664:F187S	ENSP00000319664:F187S	F	+	2	0	NUDC	27141962	1.000000	0.71417	0.939000	0.37840	0.122000	0.20287	7.697000	0.84279	2.056000	0.61249	0.451000	0.29950	TTC		0.617	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2			23	219	0	0	0	1	0	23	219				
IFNA7	3444	broad.mit.edu	37	9	21201878	21201878	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:21201878G>T	ENST00000239347.3	-	1	326	c.287C>A	c.(286-288)tCa>tAa	p.S96*		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	96					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGCAGCAGATGAGTCCTCTGT	0.493																																						ENST00000239347.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12						c.(286-288)tCa>tAa		interferon, alpha 7							52.0	56.0	54.0					9																	21201878		2202	4281	6483	SO:0001587	stop_gained	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21201878G>T		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.287C>A	9.37:g.21201878G>T	ENSP00000239347:p.Ser96*						p.S96*	NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	326	-			96					Q14607|Q5VV14	Nonsense_Mutation	SNP	ENST00000239347.3	37	c.287C>A	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365583	0.41902	.	.	ENSG00000214042	ENST00000239347	.	.	.	3.56	0.28	0.15682	.	0.828141	0.10926	N	0.618941	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2755	0.31871	0.0:0.4864:0.3482:0.1654	.	.	.	.	X	96	.	ENSP00000239347:S96X	S	-	2	0	IFNA7	21191878	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	0.117000	0.15583	-0.191000	0.10448	0.586000	0.80456	TCA		0.493	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		9	653	1	0	7.48243e-07	1	8.02992e-07	9	653				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	117	0	0	0	1	0	4	117				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			10	655	0	0	0	1	0	10	655				
ACAP2	23527	broad.mit.edu	37	3	195022345	195022345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:195022345G>A	ENST00000326793.6	-	15	1584	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	452	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GTTAAAGATCGTACTTTTGAA	0.328																																						ENST00000326793.6																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1354-1356)Cga>Tga		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							49.0	54.0	53.0					3																	195022345		2200	4299	6499	SO:0001587	stop_gained	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195022345G>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1354C>T	3.37:g.195022345G>A	ENSP00000324287:p.Arg452*						p.R452*	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN			15	1584	-			452			Arf-GAP.		A8K2V4|Q8N5Z8|Q9UQR3	Nonsense_Mutation	SNP	ENST00000326793.6	37	c.1354C>T	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.281303|5.281303	0.95489|0.95489	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000450200	.|.	.|.	.|.	5.89|5.89	4.02|4.02	0.46733|0.46733	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63850	.|0.2546	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69405	.|-0.5154	.|3	0.02654|.	T|.	1|.	.|.	13.6884|13.6884	0.62531|0.62531	0.0:0.0:0.4133:0.5867|0.0:0.0:0.4133:0.5867	.|.	.|.	.|.	.|.	X|M	452|10	.|.	ENSP00000324287:R452X|.	R|T	-|-	1|2	2|0	ACAP2|ACAP2	196503634|196503634	0.999000|0.999000	0.42202|0.42202	0.980000|0.980000	0.43619|0.43619	0.966000|0.966000	0.64601|0.64601	2.762000|2.762000	0.47597|0.47597	0.738000|0.738000	0.32606|0.32606	-0.274000|-0.274000	0.10170|0.10170	CGA|ACG		0.328	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		6	344	0	0	0	1	0	6	344				
IRS1	3667	broad.mit.edu	37	2	227660234	227660234	+	Missense_Mutation	SNP	C	C	A	rs146268112	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:227660234C>A	ENST00000305123.5	-	1	4241	c.3221G>T	c.(3220-3222)cGg>cTg	p.R1074L	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1074					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GAGGTTCACCCGGGTGAAGGC	0.642																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3220-3222)cGg>cTg		insulin receptor substrate 1							59.0	60.0	59.0					2																	227660234		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660234C>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3221G>T	2.37:g.227660234C>A	ENSP00000304895:p.Arg1074Leu						p.R1074L	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4241	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1074						Missense_Mutation	SNP	ENST00000305123.5	37	c.3221G>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685914	0.47991	.	.	ENSG00000169047	ENST00000305123	T	0.53206	0.63	5.28	5.28	0.74379	.	0.175706	0.36338	N	0.002644	T	0.32645	0.0836	N	0.22421	0.69	0.43688	D	0.996136	D	0.54207	0.965	P	0.45071	0.468	T	0.09907	-1.0653	10	0.06891	T	0.86	-9.3769	11.8558	0.52437	0.0:0.9167:0.0:0.0833	.	1074	P35568	IRS1_HUMAN	L	1074	ENSP00000304895:R1074L	ENSP00000304895:R1074L	R	-	2	0	IRS1	227368478	0.000000	0.05858	0.996000	0.52242	0.538000	0.34931	0.914000	0.28624	2.733000	0.93635	0.655000	0.94253	CGG		0.642	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		5	586	1	0	0.00198382	1	0.00202995	5	586				
CEACAM3	1084	broad.mit.edu	37	19	42301736	42301736	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:42301736G>A	ENST00000357396.3	+	2	521	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM3_ENST00000221999.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000344550.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	94	Ig-like V-type.					integral component of membrane (GO:0016021)		p.A94T(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCCAGGGGCCGCATACAGCGG	0.463																																						ENST00000357396.3																			1	Substitution - Missense(1)	p.A94T(1)	lung(1)	endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 3							188.0	210.0	202.0					19																	42301736		2181	4300	6481	SO:0001583	missense	1084					integral to membrane		g.chr19:42301736G>A	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.280G>A	19.37:g.42301736G>A	ENSP00000349971:p.Ala94Thr					CEACAM3_ENST00000344550.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000595255.1_3'UTR	p.A94T	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN			2	521	+			94			Ig-like V-type.		G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	c.280G>A	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268890	0.59540	.	.	ENSG00000170956	ENST00000357396;ENST00000389667;ENST00000221999;ENST00000344550	T;T;T	0.66280	-0.2;-0.2;-0.2	3.43	3.43	0.39272	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76955	0.4060	M	0.83483	2.645	0.09310	N	1	D;D	0.89917	1.0;0.975	D;P	0.63192	0.912;0.825	T	0.66031	-0.6024	9	0.62326	D	0.03	.	10.7307	0.46096	0.0:0.0:1.0:0.0	.	94;94	G5E978;P40198	.;CEAM3_HUMAN	T	94	ENSP00000349971:A94T;ENSP00000221999:A94T;ENSP00000341725:A94T	ENSP00000221999:A94T	A	+	1	0	CEACAM3	46993576	0.017000	0.18338	0.003000	0.11579	0.001000	0.01503	3.073000	0.50057	1.639000	0.50556	0.508000	0.49915	GCA		0.463	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		8	1480	0	0	0	1	0	8	1480				
ANKRD20A8P	729171	broad.mit.edu	37	2	95515039	95515039	+	RNA	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:95515039G>A	ENST00000432432.2	-	0	618				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		GAATAAAAGTGGGGTATTACT	0.333																																						ENST00000432432.2																			0																																																			0							g.chr2:95515039G>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.95515039G>A								NR_040113.1						0	618	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.333	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			66	911	0	0	0	1	0	66	911				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	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		5	368	0	0	0	1	0	5	368				
KRTAP5-10	387273	broad.mit.edu	37	11	71276936	71276936	+	Silent	SNP	G	G	A	rs527935556	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:71276936G>A	ENST00000398531.1	+	1	328	c.303G>A	c.(301-303)aaG>aaA	p.K101K	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	101	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTCCAAGGGGGGCTGTG	0.692													a|||	7	0.00139776	0.003	0.0	5008	,	,		6316	0.0		0.002	False		,,,				2504	0.001					ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(301-303)aaG>aaA		keratin associated protein 5-10							36.0	55.0	49.0					11																	71276936		2116	4242	6358	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276936G>A	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.303G>A	11.37:g.71276936G>A						KRTAP5-10_ENST00000376536.4_Intron	p.K101K	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	328	+			101			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.303G>A	CCDS41684.1																																																																																				0.692	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			12	768	0	0	0	1	0	12	768				
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						ENST00000420699.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	85	0	0	0	1	0	4	85				
TOMM20	9804	broad.mit.edu	37	1	235291954	235291954	+	Missense_Mutation	SNP	C	C	T	rs1130507		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:235291954C>T	ENST00000366607.4	-	1	297	c.77G>A	c.(76-78)cGc>cAc	p.R26H	SNORA14B_ENST00000384452.1_RNA	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	26					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TCGTCTTTTGCGGTCGAAGTA	0.597																																						ENST00000366607.4																			0				lung(2)|prostate(1)	3						c.(76-78)cGc>cAc		translocase of outer mitochondrial membrane 20 homolog (yeast)							138.0	127.0	131.0					1																	235291954		2203	4300	6503	SO:0001583	missense	9804				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding	g.chr1:235291954C>T		CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type II"""	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.77G>A	1.37:g.235291954C>T	ENSP00000355566:p.Arg26His						p.R26H	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)		1	297	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	26					A8K195|Q498B3|Q6IBT4	Missense_Mutation	SNP	ENST00000366607.4	37	c.77G>A	CCDS1603.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559898	0.27827	.	.	ENSG00000173726	ENST00000366607	T	0.46451	0.87	4.95	2.01	0.26516	.	0.052748	0.64402	D	0.000001	T	0.29749	0.0743	L	0.45285	1.41	0.58432	D	0.999999	B	0.21071	0.051	B	0.19391	0.025	T	0.05699	-1.0869	10	0.24483	T	0.36	-0.4404	6.8598	0.24060	0.1329:0.6698:0.1279:0.0695	rs1130507;rs3189427	26	Q15388	TOM20_HUMAN	H	26	ENSP00000355566:R26H	ENSP00000355566:R26H	R	-	2	0	TOMM20	233358577	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	7.097000	0.76967	0.359000	0.24239	-0.304000	0.09214	CGC		0.597	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095551.1	NM_014765		7	1098	0	0	0	1	0	7	1098				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10558-10560)ggC>ggT		zinc finger homeobox 3							10.0	14.0	12.0					16																	72821615		1455	3158	4613	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821615G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10560C>T	16.37:g.72821615G>A						AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	p.G3520G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11232	-		Ovarian(137;0.13)	3520			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10560C>T	CCDS10908.1																																																																																				0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		6	245	0	0	0	1	0	6	245				
IRX4	50805	broad.mit.edu	37	5	1879903	1879903	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:1879903G>A	ENST00000505790.1	-	5	907	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.R151C|IRX4_ENST00000231357.2_Missense_Mutation_p.R151C	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	151					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GTGGTCTCGCGCGTGGCGTTC	0.637																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(451-453)Cgc>Tgc		iroquois homeobox 4							127.0	95.0	106.0					5																	1879903		2203	4300	6503	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879903G>A	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.451C>T	5.37:g.1879903G>A	ENSP00000423161:p.Arg151Cys					IRX4_ENST00000513692.1_Missense_Mutation_p.R151C|IRX4_ENST00000231357.2_Missense_Mutation_p.R151C|IRX4_ENST00000505938.1_5'UTR	p.R151C	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	907	-			151					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.451C>T	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509935	0.85282	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	D;D;D;T	0.84370	-1.84;-1.84;-1.84;-0.39	4.55	3.64	0.41730	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92573	0.7641	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93692	0.7008	10	0.87932	D	0	-27.2035	12.7693	0.57410	0.0:0.0:0.8352:0.1647	.	151	P78413	IRX4_HUMAN	C	151;151;151;177	ENSP00000231357:R151C;ENSP00000423161:R151C;ENSP00000424235:R151C;ENSP00000421772:R177C	ENSP00000231357:R151C	R	-	1	0	IRX4	1932903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.297000	0.59061	2.067000	0.61834	0.462000	0.41574	CGC		0.637	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		68	421	0	0	0	1	0	68	421				
NOTCH2	4853	broad.mit.edu	37	1	120612013	120612013	+	Missense_Mutation	SNP	G	G	A	rs200646249		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:120612013G>A	ENST00000256646.2	-	1	227	c.8C>T	c.(7-9)gCc>gTc	p.A3V		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	3					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.A3V(3)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGCGCAGGGCGGGCATCTT	0.746			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		3	Substitution - Missense(3)	p.A3V(3)	prostate(2)|lung(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(7-9)gCc>gTc		notch 2																																				SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612013G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.8C>T	1.37:g.120612013G>A	ENSP00000256646:p.Ala3Val						p.A3V	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	227	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	3					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.8C>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843499	0.51057	.	.	ENSG00000134250	ENST00000256646	D	0.81821	-1.54	2.9	0.774	0.18521	.	.	.	.	.	T	0.62636	0.2444	N	0.19112	0.55	0.23776	N	0.996877	D;D	0.57571	0.98;0.98	P;P	0.53988	0.739;0.739	T	0.56323	-0.7998	9	0.72032	D	0.01	.	8.5976	0.33725	0.0:0.4687:0.5313:0.0	.	3;3	Q6IQ50;Q04721	.;NOTC2_HUMAN	V	3	ENSP00000256646:A3V	ENSP00000256646:A3V	A	-	2	0	NOTCH2	120413536	1.000000	0.71417	0.999000	0.59377	0.618000	0.37518	0.744000	0.26245	0.074000	0.16767	0.184000	0.17185	GCC		0.746	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		11	144	0	0	0	1	0	11	144				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		9	345	0	0	0	1	0	9	345				
POM121L9P	29774	broad.mit.edu	37	22	24659809	24659809	+	RNA	SNP	G	G	A	rs376621154		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr22:24659809G>A	ENST00000414583.2	+	0	3334					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CCCTATCTGCGCACCCGGAGG	0.612																																						ENST00000414583.2																			0																																																			0							g.chr22:24659809G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659809G>A								NR_003714.1						0	3334	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.612	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	49	0	0	0	1	0	4	49				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	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			6	301	1	0	0.00116845	1	0.00121254	6	301				
ZNF749	388567	broad.mit.edu	37	19	57956396	57956396	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:57956396T>C	ENST00000334181.4	+	3	2130	c.1880T>C	c.(1879-1881)cTg>cCg	p.L627P	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	627					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CGCTGTACACTGAGTAGACAT	0.363																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1879-1881)cTg>cCg		zinc finger protein 749							61.0	65.0	64.0					19																	57956396		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956396T>C	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1880T>C	19.37:g.57956396T>C	ENSP00000333980:p.Leu627Pro					AC004076.9_ENST00000596831.1_Intron	p.L627P	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2130	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	627						Missense_Mutation	SNP	ENST00000334181.4	37	c.1880T>C	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521528	0.44866	.	.	ENSG00000186230	ENST00000334181	T	0.53857	0.6	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73009	0.3532	M	0.86740	2.835	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60042	-0.7340	9	0.87932	D	0	.	9.3548	0.38159	0.0:0.0:0.0:1.0	.	627	O43361	ZN749_HUMAN	P	627	ENSP00000333980:L627P	ENSP00000333980:L627P	L	+	2	0	ZNF749	62648208	0.071000	0.21146	0.001000	0.08648	0.364000	0.29643	2.842000	0.48230	1.069000	0.40788	0.260000	0.18958	CTG		0.363	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		14	571	0	0	0	1	0	14	571				
IGHV3-7	28452	broad.mit.edu	37	14	106518512	106518512	+	RNA	SNP	A	A	G	rs367835566		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:106518512A>G	ENST00000390598.2	-	0	317									immunoglobulin heavy variable 3-7																		CACAGAGTCCACATAGTATTT	0.522																																						ENST00000390598.2																			0																				245.0	241.0	242.0					14																	106518512		1938	4128	6066			0							g.chr14:106518512A>G	M99649		14q32.33	2012-02-08			ENSG00000211938	ENSG00000211938		"""Immunoglobulins / IGH locus"""	5620	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152271		14.37:g.106518512A>G														0	317	-									RNA	SNP	ENST00000390598.2	37																																																																																						0.522	IGHV3-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325659.1	NG_001019		8	1783	0	0	0	1	0	8	1783				
TRANK1	9881	broad.mit.edu	37	3	36872996	36872996	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:36872996T>A	ENST00000429976.2	-	21	8193	c.7946A>T	c.(7945-7947)gAg>gTg	p.E2649V	TRANK1_ENST00000301807.6_Missense_Mutation_p.E2099V|TRANK1_ENST00000428977.2_Missense_Mutation_p.E2099V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2649							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCATCCATCTCATCCTGGCC	0.532																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(7945-7947)gAg>gTg		tetratricopeptide repeat and ankyrin repeat containing 1							71.0	73.0	72.0					3																	36872996		2058	4189	6247	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36872996T>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7946A>T	3.37:g.36872996T>A	ENSP00000416168:p.Glu2649Val					TRANK1_ENST00000428977.2_Missense_Mutation_p.E2099V|TRANK1_ENST00000301807.6_Missense_Mutation_p.E2099V	p.E2649V			O15050	TRNK1_HUMAN			21	8193	-			2649					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.7946A>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160380	0.38119	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35236	1.32;1.73;1.32	5.6	4.41	0.53225	.	0.096709	0.44902	D	0.000403	T	0.31482	0.0798	M	0.65975	2.015	0.30121	N	0.805724	P	0.40731	0.728	B	0.28139	0.086	T	0.43734	-0.9373	10	0.87932	D	0	.	11.1111	0.48232	0.0:0.0:0.1553:0.8447	.	2649	O15050	TRNK1_HUMAN	V	2099;2649;2099	ENSP00000416826:E2099V;ENSP00000416168:E2649V;ENSP00000301807:E2099V	ENSP00000301807:E2099V	E	-	2	0	TRANK1	36848000	0.949000	0.32298	0.652000	0.29579	0.537000	0.34900	2.449000	0.44935	1.035000	0.39972	0.459000	0.35465	GAG		0.532	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		11	123	0	0	0	1	0	11	123				
MUC4	4585	broad.mit.edu	37	3	195507874	195507874	+	Missense_Mutation	SNP	G	G	T	rs199875073		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:195507874G>T	ENST00000463781.3	-	2	11036	c.10577C>A	c.(10576-10578)aCt>aAt	p.T3526N	MUC4_ENST00000475231.1_Missense_Mutation_p.T3526N|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_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)		TACTGAGGAAGTGTCGGTGAC	0.602																																						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.(10576-10578)aCt>aAt		mucin 4, cell surface associated							44.0	36.0	38.0					3																	195507874		680	1586	2266	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.chr3:195507874G>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.10577C>A	3.37:g.195507874G>T	ENSP00000417498:p.Thr3526Asn					MUC4_ENST00000475231.1_Missense_Mutation_p.T3526N|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.T3526N	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	11036	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	323					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.10577C>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	4.955	0.177484	0.09443	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30714	1.52;1.62	0.743	0.743	0.18347	.	.	.	.	.	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.09377	0.004	T	0.29181	-1.0020	8	.	.	.	.	3.2552	0.06828	0.3579:0.0:0.6421:0.0	.	3398	E7ESK3	.	N	3526	ENSP00000417498:T3526N;ENSP00000420243:T3526N	.	T	-	2	0	MUC4	196992653	0.003000	0.15002	0.011000	0.14972	0.011000	0.07611	1.098000	0.31000	0.088000	0.17205	0.089000	0.15464	ACT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	30	1	0	0.0215528	1	0.0218507	3	30				
LRRTM1	347730	broad.mit.edu	37	2	80530477	80530477	+	Silent	SNP	G	G	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:80530477G>T	ENST00000295057.3	-	2	1124	c.468C>A	c.(466-468)ctC>ctA	p.L156L	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.L156L|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	156					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCCCGTGGAAGAGGTCGGGCG	0.637										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(466-468)ctC>ctA		leucine rich repeat transmembrane neuronal 1							81.0	88.0	85.0					2																	80530477		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530477G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.468C>A	2.37:g.80530477G>T		HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Silent_p.L156L|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	p.L156L	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1124	-			156					A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.468C>A	CCDS1966.1																																																																																				0.637	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		13	472	1	0	0.00010058	1	0.000105874	13	472				
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	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						TCATGGAAAAAGGGATAGCTG	0.522																																						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.(982-984)ccT>ccC		mucin 16, cell surface associated							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	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.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	465	0	0	0	1	0	5	465				
TBX22	50945	broad.mit.edu	37	X	79279655	79279655	+	Silent	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:79279655A>G	ENST00000373294.5	+	3	478	c.450A>G	c.(448-450)aaA>aaG	p.K150K	TBX22_ENST00000373296.3_Silent_p.K150K|TBX22_ENST00000442340.1_Silent_p.K30K|TBX22_ENST00000373291.1_Silent_p.K30K	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	150					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGGATTCCAAACGCTATAGGT	0.527																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(88-90)aaA>aaG		T-box 22							152.0	118.0	129.0					X																	79279655		2203	4300	6503	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79279655A>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.450A>G	X.37:g.79279655A>G						TBX22_ENST00000373291.1_Silent_p.K30K|TBX22_ENST00000373296.3_Silent_p.K150K|TBX22_ENST00000373294.5_Silent_p.K150K	p.K30K	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			4	580	+			150					Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.90A>G	CCDS14445.1																																																																																				0.527	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		101	438	0	0	0	1	0	101	438				
PDZD4	57595	broad.mit.edu	37	X	153069953	153069953	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:153069953C>T	ENST00000164640.4	-	8	1356	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	PDZD4_ENST00000544474.1_Missense_Mutation_p.V280I|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000393758.2_Missense_Mutation_p.V314I	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	389						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGCGGTTGACGTCCAGGGCG	0.632																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1165-1167)Gtc>Atc		PDZ domain containing 4							48.0	40.0	43.0					X																	153069953		2203	4300	6503	SO:0001583	missense	57595					cell cortex		g.chrX:153069953C>T	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1165G>A	X.37:g.153069953C>T	ENSP00000164640:p.Val389Ile					PDZD4_ENST00000544474.1_Missense_Mutation_p.V280I|PDZD4_ENST00000393758.2_Missense_Mutation_p.V314I	p.V389I	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	1356	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		389					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.1165G>A	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020509	0.35606	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.04706	3.57;3.57;3.77	5.02	5.02	0.67125	.	0.000000	0.34338	U	0.004046	T	0.09291	0.0229	L	0.46157	1.445	0.43857	D	0.996456	D;P;D;D;D	0.60575	0.98;0.956;0.988;0.988;0.98	P;P;B;P;P	0.48488	0.579;0.475;0.38;0.539;0.579	T	0.15636	-1.0430	10	0.39692	T	0.17	-44.1464	16.1719	0.81822	0.0:1.0:0.0:0.0	.	280;395;389;314;293	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	I	389;314;293;280	ENSP00000164640:V389I;ENSP00000377355:V314I;ENSP00000442033:V280I	ENSP00000164640:V389I	V	-	1	0	PDZD4	152723147	0.830000	0.29337	0.989000	0.46669	0.807000	0.45602	2.646000	0.46630	2.069000	0.61940	0.436000	0.28706	GTC		0.632	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		18	346	0	0	0	1	0	18	346				
ZNF208	7757	broad.mit.edu	37	19	22155346	22155346	+	Silent	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:22155346T>C	ENST00000397126.4	-	4	2638	c.2490A>G	c.(2488-2490)gaA>gaG	p.E830E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	830					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGCTTTTCTCCAGCAT	0.373																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2488-2490)gaA>gaG		zinc finger protein 208							66.0	72.0	70.0					19																	22155346		2117	4255	6372	SO:0001819	synonymous_variant	7757							g.chr19:22155346T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2490A>G	19.37:g.22155346T>C						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.E830E	NM_007153.3	NP_009084.2					4	2638	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2490A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	463	0	0	0	1	0	5	463				
NDRG3	57446	broad.mit.edu	37	20	35294743	35294743	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:35294743G>A	ENST00000349004.1	-	10	722	c.641C>T	c.(640-642)gCc>gTc	p.A214V	NDRG3_ENST00000540765.1_Missense_Mutation_p.A110V|Y_RNA_ENST00000365385.1_RNA|NDRG3_ENST00000359675.2_Missense_Mutation_p.A202V|NDRG3_ENST00000373803.2_Missense_Mutation_p.A214V|NDRG3_ENST00000373773.3_Missense_Mutation_p.A119V	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	214					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GATGTCTTGGGCAATATGCAT	0.398																																						ENST00000373803.2																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(640-642)gCc>gTc		NDRG family member 3							211.0	186.0	195.0					20																	35294743		2203	4300	6503	SO:0001583	missense	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35294743G>A	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.641C>T	20.37:g.35294743G>A	ENSP00000345292:p.Ala214Val					NDRG3_ENST00000540765.1_Missense_Mutation_p.A110V|NDRG3_ENST00000373773.3_Missense_Mutation_p.A119V|NDRG3_ENST00000349004.1_Missense_Mutation_p.A214V|NDRG3_ENST00000359675.2_Missense_Mutation_p.A202V	p.A214V			Q9UGV2	NDRG3_HUMAN			10	697	-		Myeloproliferative disorder(115;0.00878)	214					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	c.641C>T	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782077	0.31502	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.03	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	N	0.17723	0.515	0.58432	D	0.999999	B;B;D	0.69078	0.081;0.081;0.997	B;B;D	0.68621	0.061;0.051;0.959	T	0.03597	-1.1021	10	0.22706	T	0.39	.	11.5003	0.50433	0.0873:0.0:0.9127:0.0	.	119;202;214	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	V	214;214;202;119;110	ENSP00000345292:A214V;ENSP00000362909:A214V;ENSP00000352703:A202V;ENSP00000362878:A119V;ENSP00000442813:A110V	ENSP00000345292:A214V	A	-	2	0	NDRG3	34728157	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	8.737000	0.91562	1.493000	0.48517	0.655000	0.94253	GCC		0.398	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			5	412	0	0	0	1	0	5	412				
CTR9	9646	broad.mit.edu	37	11	10776660	10776660	+	Silent	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:10776660A>G	ENST00000361367.2	+	3	726	c.300A>G	c.(298-300)gaA>gaG	p.E100E		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	100					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTCGGAAAGAAAAGAATAAGG	0.358																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(298-300)gaA>gaG		CTR9, Paf1/RNA polymerase II complex component							108.0	112.0	111.0					11																	10776660		2201	4294	6495	SO:0001819	synonymous_variant	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10776660A>G	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.300A>G	11.37:g.10776660A>G							p.E100E	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	3	726	+			100					D3DQV8|Q15015	Silent	SNP	ENST00000361367.2	37	c.300A>G	CCDS7805.1																																																																																				0.358	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		6	614	0	0	0	1	0	6	614				
SLC12A5	57468	broad.mit.edu	37	20	44685057	44685057	+	Silent	SNP	C	C	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr20:44685057C>A	ENST00000454036.2	+	23	3082	c.3033C>A	c.(3031-3033)tcC>tcA	p.S1011S	SLC12A5_ENST00000243964.3_Silent_p.S988S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1011					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCTCCCCGTCCCCAGGGGAGG	0.607																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(3031-3033)tcC>tcA		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						34.0	33.0	34.0					20																	44685057		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44685057C>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3033C>A	20.37:g.44685057C>A						SLC12A5_ENST00000243964.3_Silent_p.S988S	p.S1011S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			23	3109	+		Myeloproliferative disorder(115;0.0122)	1011					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.3033C>A	CCDS46610.1																																																																																				0.607	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			5	208	1	0	1	1	1	5	208				
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T	rs368809647		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	86	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(301-303)ggC>ggT		keratin associated protein 9-9							78.0	83.0	81.0					17																	39411940		2203	4297	6500	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411940C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.303C>T	17.37:g.39411940C>T							p.G101G	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	305	+		Breast(137;0.000496)	101					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.303C>T	CCDS54127.1																																																																																				0.617	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		11	837	0	0	0	1	0	11	837				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	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.S155S(4)		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)		tgctgctactgctgctgctgc	0.532			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		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(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.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>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.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	p.S155S	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	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	295	0	0	0	1	0	5	295				
FN1	2335	broad.mit.edu	37	2	216246983	216246983	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:216246983G>C	ENST00000359671.1	-	31	5108	c.4843C>G	c.(4843-4845)Cag>Gag	p.Q1615E	FN1_ENST00000490833.1_5'UTR|FN1_ENST00000432072.2_Missense_Mutation_p.Q1706E|FN1_ENST00000446046.1_Missense_Mutation_p.Q1615E|FN1_ENST00000336916.4_Missense_Mutation_p.Q1615E|FN1_ENST00000354785.4_Missense_Mutation_p.Q1706E|FN1_ENST00000346544.3_Missense_Mutation_p.Q1615E|FN1_ENST00000357009.2_Missense_Mutation_p.Q1615E|FN1_ENST00000356005.4_Missense_Mutation_p.Q1615E|FN1_ENST00000357867.4_Missense_Mutation_p.Q1615E|FN1_ENST00000323926.6_Missense_Mutation_p.Q1706E|FN1_ENST00000421182.1_Missense_Mutation_p.Q1615E|FN1_ENST00000345488.5_Missense_Mutation_p.Q1615E|FN1_ENST00000443816.1_Missense_Mutation_p.Q1615E			P02751	FINC_HUMAN	fibronectin 1	1615	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTTGGATTCTGAGCATAGACA	0.448																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(5116-5118)Cag>Gag		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						100.0	90.0	94.0					2																	216246983		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216246983G>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4843C>G	2.37:g.216246983G>C	ENSP00000352696:p.Gln1615Glu					FN1_ENST00000359671.1_Missense_Mutation_p.Q1615E|FN1_ENST00000357867.4_Missense_Mutation_p.Q1615E|FN1_ENST00000357009.2_Missense_Mutation_p.Q1615E|FN1_ENST00000356005.4_Missense_Mutation_p.Q1615E|FN1_ENST00000346544.3_Missense_Mutation_p.Q1615E|FN1_ENST00000345488.5_Missense_Mutation_p.Q1615E|FN1_ENST00000336916.4_Missense_Mutation_p.Q1615E|FN1_ENST00000323926.6_Missense_Mutation_p.Q1706E|FN1_ENST00000432072.2_Missense_Mutation_p.Q1706E|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000446046.1_Missense_Mutation_p.Q1615E|FN1_ENST00000443816.1_Missense_Mutation_p.Q1615E|FN1_ENST00000421182.1_Missense_Mutation_p.Q1615E	p.Q1706E			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	32	5485	-		Renal(323;0.127)	1705			Fibronectin type-III 12; extra domain.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.5116C>G		.	.	.	.	.	.	.	.	.	.	G	17.49	3.403313	0.62288	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.91	5.91	0.95273	.	0.089806	0.48286	D	0.000200	T	0.65893	0.2735	L	0.34521	1.04	0.20638	N	0.999873	D;P;P;P;D;D;D;D;D;P;P;D	0.62365	0.991;0.904;0.946;0.478;0.975;0.989;0.991;0.971;0.981;0.946;0.946;0.973	D;D;D;P;P;D;D;P;D;D;D;D	0.79784	0.993;0.953;0.953;0.693;0.832;0.989;0.993;0.77;0.993;0.953;0.953;0.98	T	0.60974	-0.7156	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1406;1615;1706;1706;1615;1615;1615;1615;1616;1615;1615;1706	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.;.	E	1615;1706;1615;1615;1706;1616;1615;1615;1615;1615;1615;1615;1706;1615;422	ENSP00000394423:Q1615E;ENSP00000323534:Q1706E;ENSP00000338200:Q1615E;ENSP00000350534:Q1615E;ENSP00000346839:Q1706E;ENSP00000352696:Q1615E;ENSP00000265312:Q1615E;ENSP00000273049:Q1615E;ENSP00000349509:Q1615E;ENSP00000410422:Q1615E;ENSP00000415018:Q1615E;ENSP00000399538:Q1706E;ENSP00000348285:Q1615E;ENSP00000416139:Q422E	ENSP00000265313:Q1616E	Q	-	1	0	FN1	215955228	1.000000	0.71417	0.988000	0.46212	0.692000	0.40212	6.444000	0.73452	2.793000	0.96121	0.655000	0.94253	CAG		0.448	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		32	323	0	0	0	1	0	32	323				
KCNU1	157855	broad.mit.edu	37	8	36788639	36788639	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:36788639C>T	ENST00000399881.3	+	25	2944	c.2907C>T	c.(2905-2907)caC>caT	p.H969H	KCNU1_ENST00000518904.1_3'UTR	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	969					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.H969H(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGTCCTTACACGAAACCATTT	0.418																																						ENST00000399881.3																			2	Substitution - coding silent(2)	p.H969H(2)	large_intestine(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2905-2907)caC>caT		potassium channel, subfamily U, member 1							136.0	129.0	131.0					8																	36788639		1890	4114	6004	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36788639C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2907C>T	8.37:g.36788639C>T						KCNU1_ENST00000518904.1_3'UTR	p.H969H	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	25	2944	+			969						Silent	SNP	ENST00000399881.3	37	c.2907C>T	CCDS55220.1																																																																																				0.418	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		54	597	0	0	0	1	0	54	597				
HECW1	23072	broad.mit.edu	37	7	43351558	43351558	+	Missense_Mutation	SNP	C	C	T	rs368244752		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:43351558C>T	ENST00000395891.2	+	4	829	c.224C>T	c.(223-225)tCg>tTg	p.S75L	HECW1_ENST00000453890.1_Missense_Mutation_p.S75L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	75					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGGTCACCTCGGACAGCCGC	0.612																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(223-225)tCg>tTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		C	LEU/SER	0,4238		0,0,2119	57.0	65.0	62.0		224	5.8	1.0	7		62	1,8469		0,1,4234	no	missense	HECW1	NM_015052.3	145	0,1,6353	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	75/1607	43351558	1,12707	2119	4235	6354	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43351558C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.224C>T	7.37:g.43351558C>T	ENSP00000379228:p.Ser75Leu					HECW1_ENST00000453890.1_Missense_Mutation_p.S75L	p.S75L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			4	829	+			75					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.224C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	35	5.425853	0.96131	0.0	1.18E-4	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.35605	1.3;1.3	5.76	5.76	0.90799	.	0.129505	0.56097	D	0.000040	T	0.45135	0.1327	L	0.39147	1.195	0.80722	D	1	D;B;D	0.71674	0.998;0.017;0.978	P;B;B	0.51385	0.668;0.005;0.357	T	0.39143	-0.9628	10	0.87932	D	0	.	19.9521	0.97203	0.0:1.0:0.0:0.0	.	75;107;75	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	L	75;75;74	ENSP00000379228:S75L;ENSP00000407774:S75L	ENSP00000265522:S74L	S	+	2	0	HECW1	43318083	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	5.920000	0.70017	2.708000	0.92522	0.655000	0.94253	TCG		0.612	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		48	376	0	0	0	1	0	48	376				
COL1A2	1278	broad.mit.edu	37	7	94050355	94050355	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:94050355G>A	ENST00000297268.6	+	38	2801	c.2330G>A	c.(2329-2331)cGt>cAt	p.R777H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	777			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCTGGAAGTCGTGGTGATGGA	0.423										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2329-2331)cGt>cAt		collagen, type I, alpha 2	Collagenase(DB00048)						159.0	154.0	156.0					7																	94050355		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94050355G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2330G>A	7.37:g.94050355G>A	ENSP00000297268:p.Arg777His	HNSCC(75;0.22)					p.R777H	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		38	2801	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		777		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2330G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962324	0.92791	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93811	-3.29	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.97377	0.9142	H	0.94542	3.55	0.58432	D	0.999999	D	0.76494	0.999	P	0.58013	0.831	D	0.97940	1.0325	10	0.87932	D	0	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	777	P08123	CO1A2_HUMAN	H	777;778	ENSP00000297268:R777H	ENSP00000297268:R777H	R	+	2	0	COL1A2	93888291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.330000	0.72925	2.824000	0.97209	0.655000	0.94253	CGT		0.423	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		27	352	0	0	0	1	0	27	352				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			6	1184	0	0	0	1	0	6	1184				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	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.chr17:7577548C>T	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	p.G245S	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	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (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.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		81	319	0	0	0	1	0	81	319				
PRUNE2	158471	broad.mit.edu	37	9	79318999	79318999	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:79318999T>C	ENST00000376718.3	-	9	7653	c.7530A>G	c.(7528-7530)atA>atG	p.I2510M	PRUNE2_ENST00000428286.1_Missense_Mutation_p.I2151M	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2510					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCAATTCTGATATTTCCTTGC	0.363																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(6451-6453)atA>atG		prune homolog 2 (Drosophila)							112.0	103.0	106.0					9																	79318999		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318999T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7530A>G	9.37:g.79318999T>C	ENSP00000365908:p.Ile2510Met					PRUNE2_ENST00000376718.3_Missense_Mutation_p.I2510M	p.I2151M			Q8WUY3	PRUN2_HUMAN			9	7653	-			2510					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.6453A>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.506|8.506	0.865365|0.865365	0.17250|0.17250	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|T	0.46451|0.43294	0.88;0.87|0.95	5.76|5.76	-4.85|-4.85	0.03142|0.03142	.|.	0.937666|0.937666	0.08922|0.08922	N|N	0.874209|0.874209	T|T	0.24624|0.24624	0.0597|0.0597	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B|.	0.25486|.	0.127|.	B|.	0.19148|.	0.024|.	T|T	0.33445|0.33445	-0.9868|-0.9868	10|8	0.66056|0.17832	D|T	0.02|0.49	-0.3915|-0.3915	0.7931|0.7931	0.01061|0.01061	0.2162:0.3068:0.1812:0.2958|0.2162:0.3068:0.1812:0.2958	.|.	2510|.	Q8WUY3|.	PRUN2_HUMAN|.	M|V	2510;2151;2509|1832	ENSP00000365908:I2510M;ENSP00000397425:I2151M|ENSP00000389706:I1832V	ENSP00000365908:I2510M|ENSP00000389706:I1832V	I|I	-|-	3|1	3|0	PRUNE2|PRUNE2	78508819|78508819	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.769000|0.769000	0.43574|0.43574	-2.307000|-2.307000	0.01132|0.01132	-0.425000|-0.425000	0.07371|0.07371	0.533000|0.533000	0.62120|0.62120	ATA|ATC		0.363	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		5	630	0	0	0	1	0	5	630				
SNRNP200	23020	broad.mit.edu	37	2	96943638	96943638	+	Silent	SNP	C	C	T	rs191125461		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:96943638C>T	ENST00000323853.5	-	40	5738	c.5661G>A	c.(5659-5661)ccG>ccA	p.P1887P	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1887	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTTGACGTGCGGATCATTGA	0.498													C|||	1	0.000199681	0.0	0.0014	5008	,	,		24027	0.0		0.0	False		,,,				2504	0.0					ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(5659-5661)ccG>ccA		small nuclear ribonucleoprotein 200kDa (U5)							133.0	140.0	138.0					2																	96943638		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96943638C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5661G>A	2.37:g.96943638C>T						SNRNP200_ENST00000349783.5_Intron	p.P1887P	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			40	5738	-			1887			SEC63 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.5661G>A	CCDS2020.1																																																																																				0.498	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		21	755	0	0	0	1	0	21	755				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			5	220	0	0	0	1	0	5	220				
OR4C11	219429	broad.mit.edu	37	11	55371698	55371698	+	Missense_Mutation	SNP	C	C	T	rs140943798		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:55371698C>T	ENST00000302231.4	-	1	176	c.152G>A	c.(151-153)cGg>cAg	p.R51Q		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCCTAGTGTCCGGCTGGACTT	0.408													c|||	1	0.000199681	0.0008	0.0	5008	,	,		12783	0.0		0.0	False		,,,				2504	0.0					ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(151-153)cGg>cAg		olfactory receptor, family 4, subfamily C, member 11		C	GLN/ARG	0,4358		0,0,2179	76.0	72.0	74.0		152	-3.5	0.0	11	dbSNP_134	74	12,7998		2,8,3995	yes	missense	OR4C11	NM_001004700.2	43	2,8,6174	TT,TC,CC		0.1498,0.0,0.097	benign	51/311	55371698	12,12356	2179	4005	6184	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371698C>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.152G>A	11.37:g.55371698C>T	ENSP00000306651:p.Arg51Gln						p.R51Q	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	176	-			51					B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.152G>A	CCDS31503.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.005	-2.153505	0.00325	0.0	0.001498	ENSG00000172188	ENST00000302231	T	0.01076	5.37	4.34	-3.53	0.04667	GPCR, rhodopsin-like superfamily (1);	0.915015	0.09091	N	0.849832	T	0.00666	0.0022	N	0.05414	-0.055	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.46541	-0.9184	10	0.16896	T	0.51	.	6.9427	0.24502	0.0:0.2633:0.1376:0.5991	.	51	Q6IEV9	OR4CB_HUMAN	Q	51	ENSP00000306651:R51Q	ENSP00000306651:R51Q	R	-	2	0	OR4C11	55128274	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.195000	0.00563	-0.427000	0.07350	-0.701000	0.03672	CGG		0.408	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		67	545	0	0	0	1	0	67	545				
POM121L9P	29774	broad.mit.edu	37	22	24659813	24659813	+	RNA	SNP	C	C	T	rs368832816		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr22:24659813C>T	ENST00000414583.2	+	0	3338					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ATCTGCGCACCCGGAGGTGGG	0.607																																						ENST00000414583.2																			0																																																			0							g.chr22:24659813C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659813C>T								NR_003714.1						0	3338	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.607	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		6	49	0	0	0	1	0	6	49				
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338																																						ENST00000600068.1																			0																																																			0							g.chr19:53472914A>G																													19.37:g.53472914A>G						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.338	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			7	190	0	0	0	1	0	7	190				
RNF19A	25897	broad.mit.edu	37	8	101299991	101299991	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:101299991G>A	ENST00000519449.1	-	3	728	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	138					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TTAGAATGCCGCAAAAGGCAC	0.373																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(412-414)Cgg>Tgg		ring finger protein 19A, RBR E3 ubiquitin protein ligase							107.0	108.0	107.0					8																	101299991		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101299991G>A	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.412C>T	8.37:g.101299991G>A	ENSP00000428968:p.Arg138Trp					RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	p.R138W	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		3	728	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		138					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.412C>T	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139684	0.77775	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167	D;D	0.84146	-1.81;-1.81	5.57	3.77	0.43336	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.056803	0.64402	D	0.000001	D	0.88123	0.6352	M	0.76002	2.32	0.80722	D	1	D	0.63880	0.993	P	0.53490	0.727	D	0.87527	0.2450	10	0.66056	D	0.02	.	10.4328	0.44417	0.07:0.0:0.7955:0.1345	.	138	Q9NV58	RN19A_HUMAN	W	138	ENSP00000428968:R138W;ENSP00000342667:R138W	ENSP00000342667:R138W	R	-	1	2	RNF19A	101369167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.654000	0.67974	0.707000	0.31934	-0.142000	0.14014	CGG		0.373	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		6	873	0	0	0	1	0	6	873				
SMURF2P1	107133516	broad.mit.edu	37	17	28935540	28935540	+	RNA	SNP	G	G	A	rs370997062		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:28935540G>A	ENST00000579301.1	+	0	391									SMAD specific E3 ubiquitin protein ligase 2 pseudogene 1																		CGTTGTGTTCGTCTTTTTCCA	0.363																																						ENST00000578265.1																			0																																																			0							g.chr17:28935540G>A			17q11.2	2012-10-05			ENSG00000248121	ENSG00000248121			44402	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000132798		17.37:g.28935540G>A														0	193	+									RNA	SNP	ENST00000579301.1	37																																																																																						0.363	SMURF2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444254.1			5	199	0	0	0	1	0	5	199				
ABCA12	26154	broad.mit.edu	37	2	216002880	216002880	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:216002880C>T	ENST00000272895.7	-	1	271	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	ABCA12_ENST00000412081.1_Missense_Mutation_p.G18S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	18					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTTTACACCTAGCCAATTT	0.438																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(52-54)Ggt>Agt		ATP-binding cassette, sub-family A (ABC1), member 12							205.0	211.0	209.0					2																	216002880		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:216002880C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.52G>A	2.37:g.216002880C>T	ENSP00000272895:p.Gly18Ser					ABCA12_ENST00000412081.1_Missense_Mutation_p.G18S	p.G18S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	1	271	-		Renal(323;0.127)	18					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.52G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885770	0.51908	.	.	ENSG00000144452	ENST00000272895;ENST00000412081	D;D	0.88277	-2.36;-2.36	5.62	5.62	0.85841	.	0.525226	0.20241	N	0.096299	T	0.71719	0.3373	N	0.02011	-0.69	0.36056	D	0.841115	B	0.21821	0.061	B	0.15052	0.012	T	0.72087	-0.4396	10	0.23302	T	0.38	.	10.6298	0.45530	0.0:0.9127:0.0:0.0873	.	18	Q86UK0	ABCAC_HUMAN	S	18	ENSP00000272895:G18S;ENSP00000400231:G18S	ENSP00000272895:G18S	G	-	1	0	ABCA12	215711125	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	2.827000	0.48112	2.641000	0.89580	0.555000	0.69702	GGT		0.438	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		10	1914	0	0	0	1	0	10	1914				
NLRP7	199713	broad.mit.edu	37	19	55450705	55450705	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:55450705G>A	ENST00000590030.1	-	3	1522	c.1482C>T	c.(1480-1482)gcC>gcT	p.A494A	NLRP7_ENST00000592784.1_Silent_p.A494A|NLRP7_ENST00000588756.1_Silent_p.A494A|NLRP7_ENST00000448121.2_Silent_p.A494A|NLRP7_ENST00000340844.2_Silent_p.A494A|NLRP7_ENST00000446217.1_Silent_p.A522A|NLRP7_ENST00000328092.5_Silent_p.A494A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	494							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGATGTCCCAGGCGTGGCCGT	0.567																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1564-1566)gcC>gcT		NLR family, pyrin domain containing 7							67.0	65.0	66.0					19																	55450705		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55450705G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1482C>T	19.37:g.55450705G>A						NLRP7_ENST00000340844.2_Silent_p.A494A|NLRP7_ENST00000328092.5_Silent_p.A494A|NLRP7_ENST00000448121.2_Silent_p.A494A|NLRP7_ENST00000592784.1_Silent_p.A494A|NLRP7_ENST00000590030.1_Silent_p.A494A|NLRP7_ENST00000588756.1_Silent_p.A494A	p.A522A			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1968	-			494					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1566C>T	CCDS33109.1																																																																																				0.567	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		14	480	0	0	0	1	0	14	480				
MYH15	22989	broad.mit.edu	37	3	108129678	108129678	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:108129678T>C	ENST00000273353.3	-	32	4363	c.4307A>G	c.(4306-4308)gAg>gGg	p.E1436G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1436						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTCCCCGAGCTCCAGCTGCAG	0.627																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(4306-4308)gAg>gGg		myosin, heavy chain 15							35.0	37.0	36.0					3																	108129678		2054	4193	6247	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108129678T>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4307A>G	3.37:g.108129678T>C	ENSP00000273353:p.Glu1436Gly						p.E1436G	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			32	4363	-			1436						Missense_Mutation	SNP	ENST00000273353.3	37	c.4307A>G	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.267172	0.59540	.	.	ENSG00000144821	ENST00000273353	D	0.85629	-2.01	5.2	5.2	0.72013	Myosin tail (1);	.	.	.	.	D	0.93141	0.7816	M	0.88512	2.96	0.54753	D	0.999989	D	0.69078	0.997	D	0.73708	0.981	D	0.94435	0.7653	9	0.87932	D	0	.	15.0504	0.71865	0.0:0.0:0.0:1.0	.	1436	Q9Y2K3	MYH15_HUMAN	G	1436	ENSP00000273353:E1436G	ENSP00000273353:E1436G	E	-	2	0	MYH15	109612368	1.000000	0.71417	0.076000	0.20297	0.040000	0.13550	5.798000	0.69095	1.962000	0.57031	0.459000	0.35465	GAG		0.627	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		16	287	0	0	0	1	0	16	287				
MAMLD1	10046	broad.mit.edu	37	X	149639651	149639651	+	Silent	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:149639651A>G	ENST00000370401.2	+	4	2116	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	MAMLD1_ENST00000432680.2_Silent_p.Q577Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000426613.2_Silent_p.Q577Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	602	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					agcagcagcaacagcagcagc	0.602																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1804-1806)caA>caG		mastermind-like domain containing 1							77.0	68.0	71.0					X																	149639651		2203	4300	6503	SO:0001819	synonymous_variant	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639651A>G	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1806A>G	X.37:g.149639651A>G						MAMLD1_ENST00000426613.2_Silent_p.Q577Q|MAMLD1_ENST00000455522.2_Silent_p.Q83Q|MAMLD1_ENST00000262858.5_Silent_p.Q602Q|MAMLD1_ENST00000432680.2_Silent_p.Q577Q	p.Q602Q			Q13495	MAMD1_HUMAN			4	2116	+	Acute lymphoblastic leukemia(192;6.56e-05)		602			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	c.1806A>G	CCDS14693.2																																																																																				0.602	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		6	1007	0	0	0	1	0	6	1007				
RANBP2	5903	broad.mit.edu	37	2	109371692	109371692	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:109371692T>C	ENST00000283195.6	+	17	2569	c.2443T>C	c.(2443-2445)Tgc>Cgc	p.C815R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	815					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAAATGATTTGCCAACAAGT	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2443-2445)Tgc>Cgc		RAN binding protein 2							155.0	170.0	165.0					2																	109371692		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371692T>C	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2443T>C	2.37:g.109371692T>C	ENSP00000283195:p.Cys815Arg						p.C815R	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2569	+			815					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2443T>C	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	t	12.30	1.895881	0.33442	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.24350	1.86	5.8	5.8	0.92144	.	.	.	.	.	T	0.40839	0.1133	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.11542	-1.0583	9	0.36615	T	0.2	-2.8232	16.1496	0.81605	0.0:0.0:0.0:1.0	.	815	P49792	RBP2_HUMAN	R	815	ENSP00000283195:C815R	ENSP00000283195:C815R	C	+	1	0	RANBP2	108738124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.914000	0.75764	2.210000	0.71456	0.443000	0.29094	TGC		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		12	1366	0	0	0	1	0	12	1366				
PTPRZ1	5803	broad.mit.edu	37	7	121694078	121694078	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:121694078G>A	ENST00000393386.2	+	26	6778	c.6367G>A	c.(6367-6369)Gat>Aat	p.D2123N	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D1256N	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2123	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TATGATTCCTGATGGCCAAAA	0.428																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(6367-6369)Gat>Aat		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							180.0	172.0	175.0					7																	121694078		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121694078G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6367G>A	7.37:g.121694078G>A	ENSP00000377047:p.Asp2123Asn					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D1256N	p.D2123N	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			26	6778	+			2123			Tyrosine-protein phosphatase 2.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.6367G>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029859	0.54790	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.11063	2.81;2.81	5.39	4.5	0.54988	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.077127	0.53938	D	0.000057	T	0.20659	0.0497	L	0.31371	0.925	0.53688	D	0.999979	B;P;P	0.46987	0.449;0.888;0.775	B;P;P	0.60236	0.202;0.871;0.697	T	0.01413	-1.1361	10	0.62326	D	0.03	.	16.0827	0.81014	0.0:0.1344:0.8656:0.0	.	1262;1256;2123	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	N	2123;1256	ENSP00000377047:D2123N;ENSP00000410000:D1256N	ENSP00000377047:D2123N	D	+	1	0	PTPRZ1	121481314	1.000000	0.71417	0.996000	0.52242	0.004000	0.04260	9.788000	0.99064	1.251000	0.43983	-0.274000	0.10170	GAT		0.428	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		61	636	0	0	0	1	0	61	636				
PARK7	11315	broad.mit.edu	37	1	8031011	8031011	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:8031011G>A	ENST00000493678.1	+	5	377	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Missense_Mutation_p.A104T|PARK7_ENST00000338639.5_Missense_Mutation_p.A104T|PARK7_ENST00000377491.1_Missense_Mutation_p.A104T|PARK7_ENST00000377493.5_Missense_Mutation_p.A84T			Q99497	PARK7_HUMAN	parkinson protein 7	104			A -> T (in PARK7). {ECO:0000269|PubMed:15254937}.		adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381)			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGATAGCCGCCATCTGTGC	0.488																																						ENST00000493678.1																			0				large_intestine(1)	1	GRCh37	CM032052	PARK7	M		c.(310-312)Gcc>Acc		parkinson protein 7							111.0	104.0	106.0					1																	8031011		2203	4300	6503	SO:0001583	missense	0				autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity	g.chr1:8031011G>A	D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288		"""Parkinson disease"""	16369	protein-coding gene	gene with protein product			"""Parkinson disease (autosomal recessive, early onset) 7"""			11462174, 9070310	Standard	NM_007262		Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.310G>A	1.37:g.8031011G>A	ENSP00000418770:p.Ala104Thr					PARK7_ENST00000338639.5_Missense_Mutation_p.A104T|PARK7_ENST00000377493.5_Missense_Mutation_p.A84T|PARK7_ENST00000377491.1_Missense_Mutation_p.A104T|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Missense_Mutation_p.A104T	p.A104T			Q99497	PARK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)	5	377	+	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	104		A -> T (in PARK7).			B2R4Z1|O14805|Q6DR95|Q7LFU2	Missense_Mutation	SNP	ENST00000493678.1	37	c.310G>A	CCDS93.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592116	0.86953	.	.	ENSG00000116288	ENST00000338639;ENST00000493678;ENST00000377491;ENST00000377488	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.11	5.11	0.69529	ThiJ/PfpI (1);	0.098549	0.64402	D	0.000001	D	0.92805	0.7712	M	0.90145	3.09	0.80722	D	1	D	0.64830	0.994	D	0.63488	0.915	D	0.93915	0.7200	10	0.72032	D	0.01	.	14.4721	0.67523	0.0:0.0:1.0:0.0	.	104	Q99497	PARK7_HUMAN	T	104	ENSP00000340278:A104T;ENSP00000418770:A104T;ENSP00000366711:A104T;ENSP00000366708:A104T	ENSP00000340278:A104T	A	+	1	0	PARK7	7953598	1.000000	0.71417	0.970000	0.41538	0.583000	0.36354	8.154000	0.89641	2.542000	0.85734	0.650000	0.86243	GCC		0.488	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003577.1	NM_007262		5	411	0	0	0	1	0	5	411				
RASA4	10156	broad.mit.edu	37	7	102246410	102246410	+	Missense_Mutation	SNP	G	G	A	rs151024405	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:102246410G>A	ENST00000262940.7	-	5	390	c.323C>T	c.(322-324)aCg>aTg	p.T108M	RASA4_ENST00000461209.1_Missense_Mutation_p.T36M|RASA4_ENST00000449970.2_Missense_Mutation_p.T108M|RASA4_ENST00000462172.1_Missense_Mutation_p.T36M|AC105052.1_ENST00000411396.1_RNA|RP11-514P8.6_ENST00000519541.1_3'UTR	NM_006989.5	NP_008920.5	O43374	RASL2_HUMAN	RAS p21 protein activator 4	108					cellular response to calcium ion (GO:0071277)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			lung(1)|prostate(1)|urinary_tract(1)	3						GTCGACCTCCGTCAGGTGGGC	0.697													-|||	4	0.000798722	0.0023	0.0014	5008	,	,		36989	0.0		0.0	False		,,,				2504	0.0					ENST00000262940.7																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(322-324)aCg>aTg		RAS p21 protein activator 4		G	MET/THR,MET/THR	12,4384		0,12,2186	34.0	23.0	27.0		323,323	1.8	1.0	7	dbSNP_134	27	1,8547		0,1,4273	no	missense,missense	RASA4	NM_001079877.2,NM_006989.5	81,81	0,13,6459	AA,AG,GG		0.0117,0.273,0.1004	benign,benign	108/758,108/804	102246410	13,12931	2198	4274	6472	SO:0001583	missense	10156				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	metal ion binding|Ras GTPase activator activity	g.chr7:102246410G>A	AB011110	CCDS5725.1, CCDS47674.1	7q22-q31.1	2008-12-05			ENSG00000105808	ENSG00000105808			23181	protein-coding gene	gene with protein product		607943				11448776	Standard	NM_001079877		Approved	KIAA0538, CAPRI, GAPL	uc003vae.3	O43374	OTTHUMG00000150383	ENST00000262940.7:c.323C>T	7.37:g.102246410G>A	ENSP00000262940:p.Thr108Met					RP11-514P8.6_ENST00000519541.1_3'UTR|RASA4_ENST00000462172.1_Missense_Mutation_p.T36M|RASA4_ENST00000449970.2_Missense_Mutation_p.T108M|RASA4_ENST00000461209.1_Missense_Mutation_p.T36M	p.T108M	NM_006989.5	NP_008920.5	O43374	RASL2_HUMAN			5	390	-			108					O60286|Q14CQ4|Q86UW3|Q96QU0	Missense_Mutation	SNP	ENST00000262940.7	37	c.323C>T	CCDS5725.1	.	.	.	.	.	.	.	.	.	.	g	13.58	2.279748	0.40294	0.00273	1.17E-4	ENSG00000105808	ENST00000262940;ENST00000461209;ENST00000449970;ENST00000541884;ENST00000462172;ENST00000522801;ENST00000520042	T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	2.72	1.8	0.24995	C2 calcium/lipid-binding domain, CaLB (1);	0.678790	0.12625	N	0.452674	T	0.58395	0.2119	L	0.39898	1.24	0.29908	N	0.823812	B;B	0.22080	0.064;0.048	B;B	0.21360	0.034;0.021	T	0.55250	-0.8170	10	0.45353	T	0.12	.	7.113	0.25401	0.1532:0.0:0.8468:0.0	.	108;108	O43374-2;O43374	.;RASL2_HUMAN	M	108;36;108;36;36;89;36	ENSP00000262940:T108M;ENSP00000420352:T36M;ENSP00000412876:T108M;ENSP00000438250:T36M;ENSP00000417395:T36M;ENSP00000430418:T89M;ENSP00000428732:T36M	ENSP00000262940:T108M	T	-	2	0	RASA4	102033478	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-0.149000	0.10204	0.691000	0.31592	0.525000	0.51046	ACG		0.697	RASA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317900.3	NM_006989		6	367	0	0	0	1	0	6	367				
TYK2	7297	broad.mit.edu	37	19	10476252	10476252	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:10476252C>G	ENST00000525621.1	-	7	1433	c.952G>C	c.(952-954)Gtg>Ctg	p.V318L	TYK2_ENST00000264818.6_Missense_Mutation_p.V318L|TYK2_ENST00000524462.1_Missense_Mutation_p.V133L|TYK2_ENST00000529370.1_Missense_Mutation_p.V318L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	318	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GTGCCTGTCACCAGCACCTCG	0.677																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(952-954)Gtg>Ctg		tyrosine kinase 2							50.0	61.0	57.0					19																	10476252		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10476252C>G		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.952G>C	19.37:g.10476252C>G	ENSP00000431885:p.Val318Leu					TYK2_ENST00000529370.1_Missense_Mutation_p.V318L|TYK2_ENST00000524462.1_Missense_Mutation_p.V133L|TYK2_ENST00000264818.6_Missense_Mutation_p.V318L	p.V318L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		7	1433	-			318			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.952G>C	CCDS12236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.086512|4.086512	0.76642|0.76642	.|.	.|.	ENSG00000105397|ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370|ENST00000525220	D;D;D;D|.	0.87650|.	-1.59;-1.56;-1.56;-2.28|.	5.18|5.18	5.18|5.18	0.71444|0.71444	FERM domain (1);|.	0.130327|.	0.32218|.	N|.	0.006403|.	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.81682|0.81682	2.555|2.555	0.54753|0.54753	D|D	0.999981|0.999981	D;D|.	0.67145|.	0.994;0.996|.	P;P|.	0.60286|.	0.804;0.872|.	T|T	0.78966|0.78966	-0.1995|-0.1995	10|5	0.87932|.	D|.	0|.	-30.7247|-30.7247	16.2126|16.2126	0.82170|0.82170	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	318;318|.	E9PPF2;P29597|.	.;TYK2_HUMAN|.	L|C	133;318;318;65;318|96	ENSP00000433203:V133L;ENSP00000431885:V318L;ENSP00000264818:V318L;ENSP00000432728:V318L|.	ENSP00000264818:V318L|.	V|W	-|-	1|3	0|0	TYK2|TYK2	10337252|10337252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.489000|0.489000	0.33432|0.33432	4.262000|4.262000	0.58847|0.58847	2.422000|2.422000	0.82143|0.82143	0.561000|0.561000	0.74099|0.74099	GTG|TGG		0.677	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			7	494	0	0	0	1	0	7	494				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_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_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_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		11	88	1	0	2.80697e-09	1	3.04204e-09	11	88				
CHD7	55636	broad.mit.edu	37	8	61757622	61757622	+	Splice_Site	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:61757622G>A	ENST00000423902.2	+	22	5529	c.5050G>A	c.(5050-5052)Ggt>Agt	p.G1684S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1684			G -> S (in CHARGES). {ECO:0000269|PubMed:21158681, ECO:0000269|PubMed:22461308, ECO:0000269|PubMed:22462537}.		adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAACCATTCCGGTAGGTCTCC	0.458																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123	GRCh37	CM081210	CHD7	M		c.e22+1		chromodomain helicase DNA binding protein 7							128.0	130.0	129.0					8																	61757622		1995	4177	6172	SO:0001630	splice_region_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61757622G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5050+1G>A	8.37:g.61757622G>A						CHD7_ENST00000524602.1_Intron	p.G1684_splice	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		22	5529	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1684					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Splice_Site	SNP	ENST00000423902.2	37	c.5050_splice	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949354	0.92660	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.89485	-2.52	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.94591	0.8257	M	0.81341	2.54	0.80722	D	1	D	0.61697	0.99	D	0.64776	0.929	D	0.94615	0.7808	10	0.87932	D	0	-15.9541	20.054	0.97641	0.0:0.0:1.0:0.0	.	1684	Q9P2D1	CHD7_HUMAN	S	1684	ENSP00000392028:G1684S	ENSP00000307304:G1684S	G	+	1	0	CHD7	61920176	1.000000	0.71417	0.963000	0.40424	0.505000	0.33919	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	GGT		0.458	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	Missense_Mutation	6	916	0	0	0	1	0	6	916				
PCDHB8	56128	broad.mit.edu	37	5	140559337	140559337	+	Silent	SNP	C	C	T	rs374710779		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:140559337C>T	ENST00000239444.2	+	1	1967	c.1722C>T	c.(1720-1722)acC>acT	p.T574T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	574	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACCGAGCTGGTGC	0.701																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1720-1722)acC>acT									9.0	18.0	15.0					5																	140559337		2148	4213	6361	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559337C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1722C>T	5.37:g.140559337C>T							p.T574T	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1967	+			574			Cadherin 6.		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.1722C>T	CCDS4250.1																																																																																				0.701	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		8	1332	0	0	0	1	0	8	1332				
AQP4	361	broad.mit.edu	37	18	24436320	24436320	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr18:24436320C>T	ENST00000383168.4	-	5	955	c.827G>A	c.(826-828)aGc>aAc	p.S276N	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.S254N|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000440832.3_Missense_Mutation_p.S254N	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	276					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CTCCATGTAGCTTCCTTTTGT	0.488																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(826-828)aGc>aAc		aquaporin 4							277.0	237.0	251.0					18																	24436320		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436320C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.827G>A	18.37:g.24436320C>T	ENSP00000372654:p.Ser276Asn					AQP4_ENST00000440832.3_Missense_Mutation_p.S254N|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.S254N|AQP4_ENST00000583022.1_5'UTR	p.S276N	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			5	955	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		276					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.827G>A	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806238	0.31961	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.85955	-2.05	5.75	3.87	0.44632	.	0.399736	0.30492	N	0.009517	T	0.65037	0.2653	N	0.08118	0	0.23401	N	0.997751	B	0.02656	0.0	B	0.06405	0.002	T	0.44283	-0.9338	10	0.31617	T	0.26	.	3.4375	0.07452	0.0:0.4876:0.278:0.2344	.	276	P55087	AQP4_HUMAN	N	276;256;172	ENSP00000372654:S276N	ENSP00000372654:S276N	S	-	2	0	AQP4	22690318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.608000	0.36847	2.717000	0.92951	0.650000	0.86243	AGC		0.488	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		22	1405	0	0	0	1	0	22	1405				
C1orf127	148345	broad.mit.edu	37	1	11008867	11008867	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:11008867G>A	ENST00000377008.4	-	11	1270	c.824C>T	c.(823-825)cCg>cTg	p.P275L	C1orf127_ENST00000377004.4_Missense_Mutation_p.P442L			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	275	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TCTTCTCGCCGGTTTGGCTGT	0.577																																						ENST00000377004.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32						c.(1324-1326)cCg>cTg		chromosome 1 open reading frame 127							40.0	47.0	45.0					1																	11008867		2203	4296	6499	SO:0001583	missense	148345							g.chr1:11008867G>A	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.824C>T	1.37:g.11008867G>A	ENSP00000366207:p.Pro275Leu					C1orf127_ENST00000377008.4_Missense_Mutation_p.P275L	p.P442L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	12	1324	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	293					A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37	c.1325C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.25|15.25	2.776639|2.776639	0.49786|0.49786	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000377004;ENST00000377008|ENST00000418570;ENST00000520253	T;T|.	0.38401|.	1.14;1.14|.	4.89|4.89	2.85|2.85	0.33270|0.33270	.|.	0.179711|.	0.27415|.	N|.	0.019463|.	T|T	0.31263|0.31263	0.0791|0.0791	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.70016|.	0.967;0.923;0.967|.	T|T	0.19877|0.19877	-1.0292|-1.0292	10|5	0.72032|.	D|.	0.01|.	-9.7783|-9.7783	9.7508|9.7508	0.40475|0.40475	0.0:0.0:0.6245:0.3755|0.0:0.0:0.6245:0.3755	.|.	293;267;275|.	B7ZLG7;Q8N9H9-2;Q8N9H9|.	.;.;CA127_HUMAN|.	L|W	442;275|277;394	ENSP00000366203:P442L;ENSP00000366207:P275L|.	ENSP00000366203:P442L|.	P|R	-|-	2|1	0|2	C1orf127|C1orf127	10931454|10931454	0.001000|0.001000	0.12720|0.12720	0.008000|0.008000	0.14137|0.14137	0.010000|0.010000	0.07245|0.07245	0.278000|0.278000	0.18753|0.18753	1.183000|1.183000	0.42943|0.42943	0.491000|0.491000	0.48974|0.48974	CCG|CGG		0.577	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		5	441	0	0	0	1	0	5	441				
ARHGEF11	9826	broad.mit.edu	37	1	156914928	156914928	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:156914928C>T	ENST00000361409.2	-	29	3496	c.2754G>A	c.(2752-2754)aaG>aaA	p.K918K	ARHGEF11_ENST00000368194.3_Silent_p.K958K|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Silent_p.K334K	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	918	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CATTCACATACTTGAGAATCT	0.587																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(2872-2874)aaG>aaA		Rho guanine nucleotide exchange factor (GEF) 11							93.0	97.0	95.0					1																	156914928		2203	4300	6503	SO:0001819	synonymous_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156914928C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2754G>A	1.37:g.156914928C>T						ARHGEF11_ENST00000361409.2_Silent_p.K918K|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Silent_p.K334K	p.K958K	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			30	3913	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		918					D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.2874G>A	CCDS1162.1																																																																																				0.587	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		124	743	0	0	0	1	0	124	743				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000449699.1_5'Flank|SNORA41_ENST00000384675.1_RNA|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000233190.6_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		7	701	0	0	0	1	0	7	701				
SIGLEC9	27180	broad.mit.edu	37	19	51629104	51629104	+	Silent	SNP	G	G	A	rs368922715		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:51629104G>A	ENST00000250360.3	+	2	739	c.672G>A	c.(670-672)acG>acA	p.T224T	SIGLEC9_ENST00000440804.3_Silent_p.T224T	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	224	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCGTGACCACGAACAAGACCG	0.662													.|||	1	0.000199681	0.0	0.0	5008	,	,		17718	0.0		0.0	False		,,,				2504	0.001					ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(670-672)acG>acA		sialic acid binding Ig-like lectin 9		G	,	1,4405		0,1,2202	86.0	82.0	84.0		672,672	-5.8	0.0	19		84	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	SIGLEC9	NM_001198558.1,NM_014441.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	224/480,224/464	51629104	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51629104G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.672G>A	19.37:g.51629104G>A						SIGLEC9_ENST00000250360.3_Silent_p.T224T	p.T224T	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	2	739	+		all_neural(266;0.0529)	224			Ig-like C2-type 1.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.672G>A	CCDS12825.1																																																																																				0.662	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		6	679	0	0	0	1	0	6	679				
IRS4	8471	broad.mit.edu	37	X	107979420	107979420	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:107979420C>G	ENST00000372129.2	-	1	231	c.155G>C	c.(154-156)gGa>gCa	p.G52A	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	52					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCACATGGCTCCCGGACAAGA	0.672																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(154-156)gGa>gCa		insulin receptor substrate 4							20.0	23.0	22.0					X																	107979420		2174	4212	6386	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979420C>G	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.155G>C	X.37:g.107979420C>G	ENSP00000361202:p.Gly52Ala						p.G52A	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	231	-			52						Missense_Mutation	SNP	ENST00000372129.2	37	c.155G>C	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	c	14.15	2.450387	0.43531	.	.	ENSG00000133124	ENST00000372129	T	0.57436	0.4	3.0	2.13	0.27403	.	0.434509	0.17021	N	0.190111	T	0.31979	0.0814	N	0.14661	0.345	0.26220	N	0.979178	B	0.18461	0.028	B	0.12156	0.007	T	0.22243	-1.0222	10	0.56958	D	0.05	-3.0499	7.3287	0.26569	0.0:0.8609:0.0:0.1391	.	52	O14654	IRS4_HUMAN	A	52	ENSP00000361202:G52A	ENSP00000361202:G52A	G	-	2	0	IRS4	107866076	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.426000	0.44731	0.679000	0.31345	0.431000	0.28591	GGA		0.672	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		54	562	0	0	0	1	0	54	562				
EPHA3	2042	broad.mit.edu	37	3	89445093	89445093	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:89445093G>C	ENST00000336596.2	+	6	1638	c.1413G>C	c.(1411-1413)gaG>gaC	p.E471D	EPHA3_ENST00000494014.1_Missense_Mutation_p.E471D|EPHA3_ENST00000452448.2_Missense_Mutation_p.E471D	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	471	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGACTACGAGGTCAAATACT	0.448										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1411-1413)gaG>gaC		EPH receptor A3							181.0	172.0	175.0					3																	89445093		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89445093G>C	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1413G>C	3.37:g.89445093G>C	ENSP00000337451:p.Glu471Asp	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.E471D|EPHA3_ENST00000452448.2_Missense_Mutation_p.E471D	p.E471D	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	6	1638	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	471			Fibronectin type-III 2.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1413G>C	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668961	0.67814	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.59083	0.29;0.29;0.29	5.96	4.18	0.49190	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	M	0.64260	1.97	0.58432	D	0.999992	D;D	0.71674	0.997;0.998	D;D	0.79108	0.992;0.971	T	0.68758	-0.5324	9	.	.	.	.	10.9314	0.47220	0.1937:0.0:0.8063:0.0	.	471;471	P29320;P29320-2	EPHA3_HUMAN;.	D	471	ENSP00000337451:E471D;ENSP00000399926:E471D;ENSP00000419190:E471D	.	E	+	3	2	EPHA3	89527783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.525000	0.53502	0.863000	0.35553	0.655000	0.94253	GAG		0.448	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		10	1031	0	0	0	1	0	10	1031				
ANKRD11	29123	broad.mit.edu	37	16	89341354	89341354	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:89341354G>A	ENST00000301030.4	-	11	8041	c.7581C>T	c.(7579-7581)atC>atT	p.I2527I	ANKRD11_ENST00000378330.2_Silent_p.I2527I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2527					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACAGGATACGATCAGCTTCT	0.637																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(7579-7581)atC>atT		ankyrin repeat domain 11							52.0	49.0	50.0					16																	89341354		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89341354G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7581C>T	16.37:g.89341354G>A						ANKRD11_ENST00000378330.2_Silent_p.I2527I	p.I2527I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	11	8041	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2527					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.7581C>T	CCDS32513.1																																																																																				0.637	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		45	335	0	0	0	1	0	45	335				
SYNE1	23345	broad.mit.edu	37	6	152749427	152749427	+	Missense_Mutation	SNP	G	G	A	rs566004273	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:152749427G>A	ENST00000367255.5	-	37	5490	c.4889C>T	c.(4888-4890)gCg>gTg	p.A1630V	SYNE1_ENST00000367253.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1700V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1637V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1630					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGTAGAGCCGCAGCCTCCTG	0.587										HNSCC(10;0.0054)			G|||	18	0.00359425	0.0	0.0	5008	,	,		18493	0.0		0.0	False		,,,				2504	0.0184					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4888-4890)gCg>gTg		spectrin repeat containing, nuclear envelope 1							142.0	143.0	143.0					6																	152749427		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749427G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4889C>T	6.37:g.152749427G>A	ENSP00000356224:p.Ala1630Val	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1630V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1637V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1700V	p.A1630V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5490	-		Ovarian(120;0.0955)	1630					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4889C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764279	0.31228	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.52754	1.26;1.26;1.26;1.26;0.65;0.65	5.87	-3.59	0.04583	.	1.567860	0.03778	N	0.260842	T	0.13841	0.0335	L	0.46157	1.445	0.09310	N	1	B;B;B;B;B	0.24092	0.001;0.003;0.009;0.003;0.097	B;B;B;B;B	0.15484	0.001;0.001;0.004;0.001;0.013	T	0.07986	-1.0744	10	0.29301	T	0.29	.	1.7392	0.02948	0.3723:0.0905:0.3194:0.2177	.	1613;1630;1630;1630;1637	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1630;1637;1630;1637;1700;1630	ENSP00000356224:A1630V;ENSP00000396024:A1637V;ENSP00000265368:A1630V;ENSP00000390975:A1637V;ENSP00000341887:A1700V;ENSP00000356222:A1630V	ENSP00000265368:A1630V	A	-	2	0	SYNE1	152791120	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.564000	0.05936	-0.565000	0.06061	-0.122000	0.15005	GCG		0.587	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	1217	0	0	0	1	0	8	1217				
AHRR	57491	broad.mit.edu	37	5	424055	424055	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:424055G>A	ENST00000505113.1	+	7	727	c.683G>A	c.(682-684)cGt>cAt	p.R228H	AHRR_ENST00000316418.5_Missense_Mutation_p.R228H|AHRR_ENST00000512529.1_Missense_Mutation_p.R74H|AHRR_ENST00000506456.1_Missense_Mutation_p.R84H	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	228					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TTCATCTGCCGTGTGCGCTGC	0.662																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(682-684)cGt>cAt		aryl-hydrocarbon receptor repressor							47.0	55.0	52.0					5																	424055		2030	4190	6220	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:424055G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.683G>A	5.37:g.424055G>A	ENSP00000424601:p.Arg228His					AHRR_ENST00000505113.1_Missense_Mutation_p.R228H|AHRR_ENST00000506456.1_Missense_Mutation_p.R84H|AHRR_ENST00000512529.1_Missense_Mutation_p.R74H	p.R228H	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		7	727	+			228					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.683G>A	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.841778	0.91197	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.72615	0.56;0.48;-0.57;-0.67	3.96	3.96	0.45880	.	0.121518	0.56097	D	0.000027	D	0.85444	0.5698	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.987;0.998	D	0.88474	0.3064	10	0.87932	D	0	.	13.4727	0.61290	0.0:0.0:1.0:0.0	.	84;228;228	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	H	228;228;74;84	ENSP00000424601:R228H;ENSP00000323816:R228H;ENSP00000424880:R74H;ENSP00000426932:R84H	ENSP00000323816:R228H	R	+	2	0	AHRR	477055	1.000000	0.71417	0.987000	0.45799	0.900000	0.52787	8.699000	0.91316	1.749000	0.51849	0.491000	0.48974	CGT		0.662	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		17	492	0	0	0	1	0	17	492				
DMD	1756	broad.mit.edu	37	X	32563424	32563424	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:32563424G>A	ENST00000357033.4	-	17	2226	c.2020C>T	c.(2020-2022)Cca>Tca	p.P674S	DMD_ENST00000288447.4_Missense_Mutation_p.P666S|DMD_ENST00000378677.2_Missense_Mutation_p.P670S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	674					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTAGTGATGGCTGAGTGGTG	0.463																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2020-2022)Cca>Tca		dystrophin							194.0	141.0	159.0					X																	32563424		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32563424G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2020C>T	X.37:g.32563424G>A	ENSP00000354923:p.Pro674Ser					DMD_ENST00000288447.4_Missense_Mutation_p.P666S|DMD_ENST00000378677.2_Missense_Mutation_p.P670S	p.P674S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			17	2226	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	674					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2020C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	9.924	1.212886	0.22289	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.71461	0.2;0.2;-0.57	5.64	4.69	0.59074	.	0.253065	0.20010	U	0.101151	T	0.56790	0.2009	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.20887	0.049;0.003;0.007;0.002	B;B;B;B	0.19666	0.026;0.015;0.003;0.007	T	0.51284	-0.8725	10	0.18710	T	0.47	.	12.1345	0.53964	0.0:0.0:0.6831:0.3169	.	666;666;674;670	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	S	666;670;674;674;551;666	ENSP00000367948:P670S;ENSP00000354923:P674S;ENSP00000288447:P666S	ENSP00000288447:P666S	P	-	1	0	DMD	32473345	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.541000	0.45735	2.356000	0.79943	0.506000	0.49869	CCA		0.463	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	374	0	0	0	1	0	12	374				
ACSS3	79611	broad.mit.edu	37	12	81568670	81568670	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:81568670G>A	ENST00000548058.1	+	8	2112	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H	ACSS3_ENST00000548324.1_Missense_Mutation_p.R83H|ACSS3_ENST00000261206.3_Missense_Mutation_p.R400H			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	401						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGAGCAATCCGTCAACAGGAC	0.502																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(1201-1203)cGt>cAt		acyl-CoA synthetase short-chain family member 3							117.0	98.0	105.0					12																	81568670		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81568670G>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1202G>A	12.37:g.81568670G>A	ENSP00000449535:p.Arg401His					ACSS3_ENST00000261206.3_Missense_Mutation_p.R400H|ACSS3_ENST00000548324.1_Missense_Mutation_p.R83H	p.R401H			Q9H6R3	ACSS3_HUMAN			8	2112	+			401					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1202G>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332027	0.95733	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.40756	1.02;1.02;1.02	5.83	5.83	0.93111	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	L	0.57130	1.785	0.80722	D	1	P;D	0.89917	0.956;1.0	B;D	0.77004	0.412;0.989	T	0.63769	-0.6562	10	0.72032	D	0.01	-13.3289	20.126	0.97982	0.0:0.0:1.0:0.0	.	83;401	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	H	401;400;83	ENSP00000449535:R401H;ENSP00000261206:R400H;ENSP00000448965:R83H	ENSP00000261206:R400H	R	+	2	0	ACSS3	80092801	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.056000	0.93881	2.749000	0.94314	0.655000	0.94253	CGT		0.502	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		15	279	0	0	0	1	0	15	279				
THBS1	7057	broad.mit.edu	37	15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A	rs566389840		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CATCAACACCGAAAGGGACGA	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20601	0.0		0.0	False		,,,				2504	0.0					ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3049-3051)Gaa>Aaa		thrombospondin 1	Becaplermin(DB00102)						205.0	208.0	207.0					15																	39885651		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885651G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3049G>A	15.37:g.39885651G>A	ENSP00000260356:p.Glu1017Lys						p.E1017K	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3214	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1017			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3049G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364802	0.82463	.	.	ENSG00000137801	ENST00000260356	D	0.95171	-3.63	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.36628	N	0.002492	D	0.91566	0.7336	L	0.35854	1.095	0.80722	D	1	P;D	0.53619	0.911;0.961	B;B	0.40228	0.255;0.323	D	0.91634	0.5321	10	0.46703	T	0.11	-23.8437	19.9729	0.97289	0.0:0.0:1.0:0.0	.	932;1017	B4E3J7;P07996	.;TSP1_HUMAN	K	1017	ENSP00000260356:E1017K	ENSP00000260356:E1017K	E	+	1	0	THBS1	37672943	1.000000	0.71417	0.827000	0.32855	0.987000	0.75469	9.864000	0.99589	2.714000	0.92807	0.655000	0.94253	GAA		0.493	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		9	1514	0	0	0	1	0	9	1514				
SLC35G5	83650	broad.mit.edu	37	8	11189370	11189370	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:11189370G>A	ENST00000382435.4	+	1	974	c.755G>A	c.(754-756)aGt>aAt	p.S252N		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	252						integral component of membrane (GO:0016021)											GACCTCCTGAGTTGGAGTTGT	0.632																																						ENST00000382435.4																			0											c.(754-756)aGt>aAt		solute carrier family 35, member G5							88.0	92.0	91.0					8																	11189370		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11189370G>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.755G>A	8.37:g.11189370G>A	ENSP00000371872:p.Ser252Asn						p.S252N	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	974	+			252					A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.755G>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879568	0.33162	.	.	ENSG00000177710	ENST00000382435	T	0.69040	-0.37	.	.	.	.	0.149427	0.31188	N	0.008094	T	0.55800	0.1943	L	0.44542	1.39	0.25557	N	0.98702	P	0.47484	0.896	P	0.48952	0.596	T	0.47368	-0.9123	9	0.19147	T	0.46	-4.5807	3.6132	0.08067	2.0E-4:0.4969:0.5026:2.0E-4	.	252	Q96KT7	S35G5_HUMAN	N	252	ENSP00000371872:S252N	ENSP00000371872:S252N	S	+	2	0	SLC35G5	11226780	0.969000	0.33509	0.202000	0.23494	0.204000	0.24138	1.472000	0.35376	0.088000	0.17205	0.089000	0.15464	AGT		0.632	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		7	674	0	0	0	1	0	7	674				
ST18	9705	broad.mit.edu	37	8	53062293	53062293	+	Splice_Site	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:53062293T>C	ENST00000276480.7	-	16	2734	c.2051A>G	c.(2050-2052)gAg>gGg	p.E684G	RP11-26M5.3_ENST00000520496.1_RNA	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	684					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AAACAATACCTCTTTCTCCTC	0.418																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.e16+1		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							65.0	65.0	65.0					8																	53062293		2203	4300	6503	SO:0001630	splice_region_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53062293T>C	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2052+1A>G	8.37:g.53062293T>C							p.E684_splice	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			16	2734	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	684					Q17RY1	Splice_Site	SNP	ENST00000276480.7	37	c.2052_splice	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256218	0.80246	.	.	ENSG00000147488	ENST00000276480	T	0.53857	0.6	5.53	5.53	0.82687	Myelin transcription factor 1 (1);	0.146632	0.64402	D	0.000011	T	0.72819	0.3508	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.75082	-0.3443	10	0.49607	T	0.09	-25.523	15.6592	0.77169	0.0:0.0:0.0:1.0	.	684	O60284	ST18_HUMAN	G	684	ENSP00000276480:E684G	ENSP00000276480:E684G	E	-	2	0	ST18	53224846	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	5.945000	0.70226	2.110000	0.64415	0.377000	0.23210	GAG		0.418	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		Missense_Mutation	32	220	0	0	0	1	0	32	220				
CAPZA3	93661	broad.mit.edu	37	12	18891410	18891410	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:18891410G>C	ENST00000317658.3	+	1	366	c.208G>C	c.(208-210)Gta>Cta	p.V70L	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000539875.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	70					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGGAAATCCAGTACTCTTGTC	0.423																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(208-210)Gta>Cta		capping protein (actin filament) muscle Z-line, alpha 3							118.0	107.0	111.0					12																	18891410		2203	4300	6503	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891410G>C	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.208G>C	12.37:g.18891410G>C	ENSP00000326238:p.Val70Leu						p.V70L	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	366	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	70					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.208G>C	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661852	0.67700	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.39	4.39	0.52855	.	0.000000	0.64402	D	0.000002	T	0.76849	0.4045	M	0.72353	2.195	0.41152	D	0.986031	D	0.63046	0.992	D	0.76071	0.987	T	0.80065	-0.1538	9	0.72032	D	0.01	-16.3283	13.8066	0.63236	0.0:0.0:1.0:0.0	.	70	Q96KX2	CAZA3_HUMAN	L	70	.	ENSP00000326238:V70L	V	+	1	0	CAPZA3	18782677	0.990000	0.36364	0.889000	0.34880	0.991000	0.79684	4.256000	0.58810	2.278000	0.76064	0.462000	0.41574	GTA		0.423	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		59	512	0	0	0	1	0	59	512				
LTBP4	8425	broad.mit.edu	37	19	41120241	41120241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:41120241C>T	ENST00000308370.7	+	22	2902	c.2902C>T	c.(2902-2904)Cga>Tga	p.R968*	LTBP4_ENST00000396819.3_Nonsense_Mutation_p.R901*|LTBP4_ENST00000545697.1_Nonsense_Mutation_p.R421*|LTBP4_ENST00000204005.9_Nonsense_Mutation_p.R931*|LTBP4_ENST00000243562.9_Nonsense_Mutation_p.R66*|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	968	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGTCGCGAGCGAGGCCCAGC	0.662																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(2902-2904)Cga>Tga		latent transforming growth factor beta binding protein 4							37.0	40.0	39.0					19																	41120241		1988	4156	6144	SO:0001587	stop_gained	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41120241C>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2902C>T	19.37:g.41120241C>T	ENSP00000311905:p.Arg968*					LTBP4_ENST00000243562.9_Nonsense_Mutation_p.R66*|LTBP4_ENST00000545697.1_Nonsense_Mutation_p.R421*|LTBP4_ENST00000204005.9_Nonsense_Mutation_p.R931*|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.R901*|LTBP4_ENST00000602240.1_3'UTR	p.R968*	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		22	2902	+			968			Cys-rich.		O00508|O75412|O75413	Nonsense_Mutation	SNP	ENST00000308370.7	37	c.2902C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.375412	0.98784	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	.	.	.	4.42	3.32	0.38043	.	0.436821	0.16974	N	0.191978	.	.	.	.	.	.	0.25981	N	0.982375	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	2.7137	0.05181	0.1743:0.5273:0.1922:0.1063	.	.	.	.	X	931;421;968;901;66	.	ENSP00000204005:R931X	R	+	1	2	LTBP4	45812081	0.474000	0.25886	0.998000	0.56505	0.950000	0.60333	0.304000	0.19228	2.280000	0.76307	0.455000	0.32223	CGA		0.662	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		6	339	0	0	0	1	0	6	339				
OGDHL	55753	broad.mit.edu	37	10	50946000	50946000	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:50946000C>T	ENST00000374103.4	-	19	2595	c.2510G>A	c.(2509-2511)cGc>cAc	p.R837H	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.R628H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R780H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	837					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R837L(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CACCGGCTTGCGGAAGGGCAG	0.647																																						ENST00000374103.4																			1	Substitution - Missense(1)	p.R837L(1)	pancreas(1)	central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(2509-2511)cGc>cAc		oxoglutarate dehydrogenase-like							103.0	107.0	105.0					10																	50946000		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50946000C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2510G>A	10.37:g.50946000C>T	ENSP00000363216:p.Arg837His					OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.R628H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R780H	p.R837H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			19	2595	-			837					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2510G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939356	0.92526	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.92545	-3.06;-3.06;-3.06	5.05	4.14	0.48551	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96005	0.8699	M	0.84773	2.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96219	0.9159	10	0.87932	D	0	.	13.2146	0.59851	0.0:0.9228:0.0:0.0772	.	780;628;837	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	837;780;628	ENSP00000363216:R837H;ENSP00000401356:R780H;ENSP00000390240:R628H	ENSP00000363216:R837H	R	-	2	0	OGDHL	50616006	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.803000	0.85983	1.111000	0.41721	0.650000	0.86243	CGC		0.647	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		8	1084	0	0	0	1	0	8	1084				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			7	742	0	0	0	1	0	7	742				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			0							g.chr17:43587657C>T	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.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		7	752	0	0	0	1	0	7	752				
SPAST	6683	broad.mit.edu	37	2	32366971	32366971	+	Splice_Site	SNP	A	A	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:32366971A>T	ENST00000315285.3	+	13	1618		c.e13-1		SPAST_ENST00000345662.1_Splice_Site	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTTTTTTTTTAGGCGTTTCAT	0.303																																						ENST00000315285.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CD023280|CS011849	SPAST	D|S		c.e13-1		spastin							111.0	104.0	106.0					2																	32366971		2203	4299	6502	SO:0001630	splice_region_variant	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32366971A>T	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.1494-1A>T	2.37:g.32366971A>T						SPAST_ENST00000345662.1_Splice_Site		NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN			13	1618	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)								Splice_Site	SNP	ENST00000315285.3	37		CCDS1778.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119328	0.77323	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.331	0.66556	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPAST	32220475	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	7.284000	0.78650	1.857000	0.53885	0.482000	0.46254	.		0.303	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436	Intron	5	161	0	0	0	1	0	5	161				
TXNDC2	84203	broad.mit.edu	37	18	9886941	9886941	+	Silent	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr18:9886941A>G	ENST00000306084.6	+	2	664	c.465A>G	c.(463-465)aaA>aaG	p.K155K	TXNDC2_ENST00000536353.2_Silent_p.K88K|TXNDC2_ENST00000357775.5_Silent_p.K88K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	155	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCTCAGCAAAACCCATCCAGC	0.547																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(463-465)aaA>aaG		thioredoxin domain containing 2 (spermatozoa)							131.0	137.0	135.0					18																	9886941		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886941A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.465A>G	18.37:g.9886941A>G						TXNDC2_ENST00000357775.4_Silent_p.K88K|TXNDC2_ENST00000536353.2_Silent_p.K88K	p.K155K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	664	+			155			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.465A>G	CCDS42414.1																																																																																				0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			8	1322	0	0	0	1	0	8	1322				
DRP2	1821	broad.mit.edu	37	X	100505940	100505940	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:100505940T>C	ENST00000395209.3	+	16	2260	c.1733T>C	c.(1732-1734)tTc>tCc	p.F578S	DRP2_ENST00000538510.1_Missense_Mutation_p.F578S|DRP2_ENST00000541709.1_Missense_Mutation_p.F500S|DRP2_ENST00000402866.1_Missense_Mutation_p.F578S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	578					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GCATCCCAGTTCCTGGAGTGG	0.542																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(1732-1734)tTc>tCc		dystrophin related protein 2							164.0	134.0	144.0					X																	100505940		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100505940T>C	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1733T>C	X.37:g.100505940T>C	ENSP00000378635:p.Phe578Ser					DRP2_ENST00000402866.1_Missense_Mutation_p.F578S|DRP2_ENST00000541709.1_Missense_Mutation_p.F500S|DRP2_ENST00000538510.1_Missense_Mutation_p.F578S	p.F578S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			16	2260	+			578					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1733T>C	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885168	0.91814	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	6.06	6.06	0.98353	EF-hand domain, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93684	0.7001	10	0.87932	D	0	-16.046	15.4998	0.75687	0.0:0.0:0.0:1.0	.	578	Q13474	DRP2_HUMAN	S	578;578;500;578	ENSP00000385038:F578S;ENSP00000378635:F578S;ENSP00000444752:F500S;ENSP00000441051:F578S	ENSP00000378635:F578S	F	+	2	0	DRP2	100392596	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.040000	0.89188	2.044000	0.60594	0.486000	0.48141	TTC		0.542	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		33	1198	0	0	0	1	0	33	1198				
KRT4	3851	broad.mit.edu	37	12	53202186	53202186	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:53202186G>A	ENST00000551956.1	-	6	1509	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	KRT4_ENST00000458244.2_Silent_p.I319I|KRT4_ENST00000293774.4_Silent_p.I413I			P19013	K2C4_HUMAN	keratin 4	353	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGTCAACCGAGATCTGGAGCT	0.498																																					Pancreas(190;284 2995 41444 45903)	ENST00000551956.1																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(1015-1017)atC>atT		keratin 4							93.0	94.0	94.0					12																	53202186		2185	4295	6480	SO:0001819	synonymous_variant	3851					keratin filament	structural molecule activity	g.chr12:53202186G>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1017C>T	12.37:g.53202186G>A						KRT4_ENST00000293774.4_Silent_p.I413I|KRT4_ENST00000458244.2_Silent_p.I319I	p.I339I			B4DRS2	B4DRS2_HUMAN			6	1509	-			339					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	c.1017C>T	CCDS41787.2																																																																																				0.498	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		15	507	0	0	0	1	0	15	507				
HSF4	3299	broad.mit.edu	37	16	67203674	67203674	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:67203674A>G	ENST00000521374.1	+	13	1465	c.1465A>G	c.(1465-1467)Agt>Ggt	p.S489G	NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000264009.8_Missense_Mutation_p.S489G|HSF4_ENST00000421453.1_Missense_Mutation_p.S459G|NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000584272.1_Missense_Mutation_p.S459G			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	489					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCCGGAAGCCAGTCCCTCCCC	0.667											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(1465-1467)Agt>Ggt		heat shock transcription factor 4							40.0	46.0	44.0					16																	67203674		1851	4075	5926	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67203674A>G	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1465A>G	16.37:g.67203674A>G	ENSP00000430947:p.Ser489Gly		OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1097	HSF4_ENST00000584272.1_Missense_Mutation_p.S459G|HSF4_ENST00000421453.1_Missense_Mutation_p.S459G|HSF4_ENST00000521374.1_Missense_Mutation_p.S489G	p.S489G	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	15	2430	+		Ovarian(137;0.0563)	489					Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.1465A>G	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.29|11.29	1.593884|1.593884	0.28445|0.28445	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000519601;ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.63|4.63	3.47|3.47	0.39725|0.39725	.|.	.|0.322852	.|0.26812	.|N	.|0.022370	T|T	0.24509|0.24509	0.0594|0.0594	N|N	0.19112|0.19112	0.55|0.55	0.25125|0.25125	N|N	0.990618|0.990618	.|B;B	.|0.17268	.|0.021;0.012	.|B;B	.|0.21151	.|0.033;0.014	T|T	0.13656|0.13656	-1.0501|-1.0501	5|9	.|0.29301	.|T	.|0.29	-17.1419|-17.1419	6.2709|6.2709	0.20953|0.20953	0.8712:0.0:0.1288:0.0|0.8712:0.0:0.1288:0.0	.|.	.|459;489	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	R|G	220;132|459;489;413;489	.|.	.|ENSP00000264009:S489G	Q|S	+|+	2|1	0|0	HSF4|HSF4	65761175|65761175	0.525000|0.525000	0.26290|0.26290	0.986000|0.986000	0.45419|0.45419	0.152000|0.152000	0.21847|0.21847	0.176000|0.176000	0.16782|0.16782	0.841000|0.841000	0.35020|0.35020	0.460000|0.460000	0.39030|0.39030	CAG|AGT		0.667	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		36	592	0	0	0	1	0	36	592				
BAI1	575	broad.mit.edu	37	8	143599550	143599550	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:143599550G>A	ENST00000517894.1	+	19	3763	c.2869G>A	c.(2869-2871)Gtg>Atg	p.V957M	BAI1_ENST00000323289.5_Missense_Mutation_p.V957M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	957					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGCTGTGGCGTGTCCTCTCT	0.642																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(2869-2871)Gtg>Atg		brain-specific angiogenesis inhibitor 1							200.0	199.0	199.0					8																	143599550		2203	4298	6501	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143599550G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2869G>A	8.37:g.143599550G>A	ENSP00000430945:p.Val957Met					BAI1_ENST00000323289.5_Missense_Mutation_p.V957M	p.V957M			O14514	BAI1_HUMAN			19	3763	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		957						Missense_Mutation	SNP	ENST00000517894.1	37	c.2869G>A		.	.	.	.	.	.	.	.	.	.	G	18.33	3.600387	0.66332	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.41758	0.99;0.99	3.22	2.32	0.28847	.	0.205293	0.31760	U	0.007115	T	0.55878	0.1948	M	0.61703	1.905	0.52099	D	0.999948	D	0.76494	0.999	D	0.65233	0.933	T	0.57551	-0.7792	10	0.87932	D	0	.	10.8578	0.46808	0.0:0.194:0.806:0.0	.	957	E9PBK0	.	M	957	ENSP00000430945:V957M;ENSP00000313046:V957M	ENSP00000313046:V957M	V	+	1	0	BAI1	143596552	1.000000	0.71417	0.999000	0.59377	0.748000	0.42578	6.006000	0.70724	0.531000	0.28639	-0.332000	0.08345	GTG		0.642	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		6	677	0	0	0	1	0	6	677				
ASPM	259266	broad.mit.edu	37	1	197072159	197072159	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:197072159C>T	ENST00000367409.4	-	18	6478	c.6222G>A	c.(6220-6222)caG>caA	p.Q2074Q	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2074	IQ 15. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.Q2074Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATACCATCTCTGAATTATAA	0.323																																						ENST00000367409.4																			1	Substitution - coding silent(1)	p.Q2074Q(1)	cervix(1)	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6220-6222)caG>caA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							74.0	81.0	79.0					1																	197072159		2202	4293	6495	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072159C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6222G>A	1.37:g.197072159C>T						ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.Q2074Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	6478	-			2074			IQ 15.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.6222G>A	CCDS1389.1																																																																																				0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		21	688	0	0	0	1	0	21	688				
COL4A4	1286	broad.mit.edu	37	2	227945177	227945177	+	Silent	SNP	T	T	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:227945177T>C	ENST00000396625.3	-	24	1992	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	COL4A4_ENST00000329662.7_Silent_p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	595	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGATCCCCTTTTTCTCCAG	0.463																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1783-1785)aaA>aaG		collagen, type IV, alpha 4							126.0	126.0	126.0					2																	227945177		1858	4099	5957	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227945177T>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1785A>G	2.37:g.227945177T>C						COL4A4_ENST00000329662.7_Silent_p.K595K	p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	24	1992	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	595			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.1785A>G	CCDS42828.1																																																																																				0.463	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		8	932	0	0	0	1	0	8	932				
PARP4	143	broad.mit.edu	37	13	25044068	25044068	+	Silent	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:25044068G>A	ENST00000381989.3	-	16	2115	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	670	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGAAGGCTTCGAAGCCACACA	0.458																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2008-2010)ttC>ttT		poly (ADP-ribose) polymerase family, member 4							90.0	69.0	76.0					13																	25044068		2203	4300	6503	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25044068G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2010C>T	13.37:g.25044068G>A							p.F670F	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	16	2115	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	670			VIT.		O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.2010C>T	CCDS9307.1																																																																																				0.458	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		5	224	0	0	0	1	0	5	224				
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:43318571G>A	ENST00000374518.5	+	20	3201	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1046					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.M1046I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393																																						ENST00000374518.4																			1	Substitution - Missense(1)	p.M1046I(1)	endometrium(1)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3136-3138)atG>atA		BMS1 ribosome biogenesis factor							74.0	83.0	80.0					10																	43318571		2202	4297	6499	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318571G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3138G>A	10.37:g.43318571G>A	ENSP00000363642:p.Met1046Ile						p.M1046I	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3201	+			1046					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3138G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485181	0.63962	.	.	ENSG00000165733	ENST00000374518	T	0.26957	1.7	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.86953	2.85	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.48636	-0.9018	10	0.72032	D	0.01	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1046	Q14692	BMS1_HUMAN	I	1046	ENSP00000363642:M1046I	ENSP00000363642:M1046I	M	+	3	0	BMS1	42638577	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	ATG		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		8	928	0	0	0	1	0	8	928				
GRM2	2912	broad.mit.edu	37	3	51743379	51743379	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:51743379C>T	ENST00000395052.3	+	2	614	c.380C>T	c.(379-381)gCg>gTg	p.A127V	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.A127V	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	127					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCTCTTATGCGACCCATGGT	0.587																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(379-381)gCg>gTg		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						59.0	46.0	50.0					3																	51743379		2203	4297	6500	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743379C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.380C>T	3.37:g.51743379C>T	ENSP00000378492:p.Ala127Val					GRM2_ENST00000442933.2_Missense_Mutation_p.A127V|GRM2_ENST00000475478.1_Intron	p.A127V	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	614	+			127					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.380C>T	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981130	0.93044	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.84589	-1.87;-1.87	5.42	5.42	0.78866	Extracellular ligand-binding receptor (1);	0.062472	0.64402	D	0.000006	D	0.85500	0.5711	L	0.37630	1.12	0.80722	D	1	P	0.48230	0.907	P	0.49887	0.625	D	0.86902	0.2055	10	0.66056	D	0.02	.	19.2362	0.93861	0.0:1.0:0.0:0.0	.	127	Q14416	GRM2_HUMAN	V	127	ENSP00000378492:A127V;ENSP00000408906:A127V	ENSP00000296479:A127V	A	+	2	0	GRM2	51718419	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	6.026000	0.70873	2.555000	0.86185	0.655000	0.94253	GCG		0.587	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			5	202	0	0	0	1	0	5	202				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	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		17	319	0	0	0	1	0	17	319				
FANCD2	2177	broad.mit.edu	37	3	10115018	10115018	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:10115018C>T	ENST00000419585.1	+	28	2848	c.2687C>T	c.(2686-2688)aCg>aTg	p.T896M	FANCD2_ENST00000383807.1_Missense_Mutation_p.T896M|FANCD2_ENST00000383806.1_Missense_Mutation_p.T896M|FANCD2_ENST00000287647.3_Missense_Mutation_p.T896M			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	896					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGTGACCCTACGCCATCTCAT	0.398			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2686-2688)aCg>aTg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							124.0	131.0	128.0					3																	10115018		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10115018C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2687C>T	3.37:g.10115018C>T	ENSP00000398754:p.Thr896Met					FANCD2_ENST00000383807.1_Missense_Mutation_p.T896M|FANCD2_ENST00000419585.1_Missense_Mutation_p.T896M|FANCD2_ENST00000383806.1_Missense_Mutation_p.T896M	p.T896M	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	28	2780	+			896					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2687C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394940	0.42512	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.83	4.05	0.47172	.	0.379519	0.32593	N	0.005899	T	0.49270	0.1547	L	0.57536	1.79	0.09310	N	1	D;D	0.57571	0.98;0.98	P;P	0.48815	0.467;0.591	T	0.44682	-0.9312	10	0.56958	D	0.05	.	9.5192	0.39124	0.0:0.8619:0.0:0.1381	.	896;896	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	M	896	ENSP00000287647:T896M;ENSP00000373318:T896M;ENSP00000373317:T896M;ENSP00000398754:T896M	ENSP00000287647:T896M	T	+	2	0	FANCD2	10090018	0.010000	0.17322	0.007000	0.13788	0.567000	0.35839	1.540000	0.36115	0.834000	0.34852	0.650000	0.86243	ACG		0.398	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			7	1056	0	0	0	1	0	7	1056				
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgcctc>tgc	p.L137del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	137					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(394-399)tgc>tg		exostosin-like glycosyltransferase 1																																				SO:0001651	inframe_deletion	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349533_26349535delCCT	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.396_398delCCT	1.37:g.26349542_26349544delCCT	ENSP00000363398:p.Leu137del						p.CL132del	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1263_1265	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	132					Q6GSC1	In_Frame_Del	DEL	ENST00000374280.3	37	c.396_398delCCT	CCDS271.1																																																																																				0.606	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		8	390						8	390	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673443	32673443	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:32673443delG	ENST00000291358.6	+	5	1182	c.1161delG	c.(1159-1161)ttgfs	p.L387fs	IQCC_ENST00000537469.1_Frame_Shift_Del_p.L467fs|RP4-622L5.7_ENST00000373604.4_RNA|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATGGTACCTTGGGGGGGCCAG	0.552																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1399-1401)ttfs		IQ motif containing C							82.0	89.0	87.0					1																	32673443		2203	4300	6503	SO:0001589	frameshift_variant	55721							g.chr1:32673443delG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1161delG	1.37:g.32673443delG	ENSP00000291358:p.Leu387fs					IQCC_ENST00000291358.6_Frame_Shift_Del_p.L387fs	p.L467fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			5	1448	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	387					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Del	DEL	ENST00000291358.6	37	c.1401delG	CCDS355.1																																																																																				0.552	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		9	982						9	982	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36636625	36636626	+	Frame_Shift_Ins	INS	-	-	C	rs200289388		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:36636625_36636626insC	ENST00000373151.2	+	2	316_317	c.100_101insC	c.(100-102)tccfs	p.S34fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.S34fs|MAP7D1_ENST00000316156.4_Frame_Shift_Ins_p.S34fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	34	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGGTGACCCTTCCCCCCCACCA	0.594																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(100-102)cccfs		MAP7 domain containing 1																																				SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36636625_36636626insC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.107dupC	1.37:g.36636632_36636632dupC	ENSP00000362244:p.Ser34fs					MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P34fs|MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P34fs	p.P34fs			Q3KQU3	MA7D1_HUMAN			2	553_554	+		Myeloproliferative disorder(586;0.0393)	34			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Ins	INS	ENST00000373151.2	37	c.100_101insC	CCDS30673.1																																																																																				0.594	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		8	685						8	685	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-	rs549143666|rs377569778	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			12	888						12	888	---	---	---	---
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-	rs201148088		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231.0	218.0	222.0					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		7	2153						7	2153	---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91406039	91406040	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:91406039_91406040insT	ENST00000370440.1	-	3	1088_1089	c.871_872insA	c.(871-873)agafs	p.R291fs	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.R291fs|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCGCTTTCTTTTTTTTTCT	0.337																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(871-873)aaafs		zinc finger protein 644																																				SO:0001589	frameshift_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406039_91406040insT	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.872dupA	1.37:g.91406048_91406048dupT	ENSP00000359469:p.Arg291fs					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000467231.1_Intron	p.K291fs			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1088_1089	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	291					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Frame_Shift_Ins	INS	ENST00000370440.1	37	c.871_872insA	CCDS731.1																																																																																				0.337	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		12	344						12	344	---	---	---	---
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-	rs375773077		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		9	556						9	556	---	---	---	---
CLCC1	23155	broad.mit.edu	37	1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-	rs150759040		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)aagfs	p.K514fs	CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1540-1542)agfs		chloride channel CLIC-like 1							144.0	130.0	135.0					1																	109477407		2203	4300	6503	SO:0001589	frameshift_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109477407delT	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1541delA	1.37:g.109477407delT	ENSP00000358988:p.Lys514fs					CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs	p.K514fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	11	1670	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	514					O94861|Q8WYP8|Q8WYP9|Q9BU25	Frame_Shift_Del	DEL	ENST00000369971.2	37	c.1541delA	CCDS41362.1																																																																																				0.597	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		7	871						7	871	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118584455	118584455	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:118584455delG	ENST00000336338.5	-	21	3090	c.3025delC	c.(3025-3027)cacfs	p.H1009fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1009						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTGGTTGGTGGGGGGACTCT	0.373																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(3025-3027)acfs		sperm associated antigen 17							304.0	305.0	305.0					1																	118584455		2203	4300	6503	SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118584455delG		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3025delC	1.37:g.118584455delG	ENSP00000337804:p.His1009fs						p.H1009fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	21	3090	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1009					Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	c.3025delC	CCDS899.1																																																																																				0.373	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		7	1791						7	1791	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											aaaccaaaaacaaaAAAAAAAG	0.416																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109312_145109313insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109322_145109322dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		9	30						9	30	---	---	---	---
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:150551492_150551494delTCC	ENST00000369026.2	-	1	572_574	c.513_515delGGA	c.(511-516)gaggac>gac	p.E171del	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_In_Frame_Del_p.E171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	171	PEST-like.				apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635																																						ENST00000369026.2																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8						c.(511-516)gac>ga		myeloid cell leukemia sequence 1 (BCL2-related)			,,	70,4190		29,12,2089					,,	1.0	1.0			54	109,8145		46,17,4064	no	coding,coding,intron	MCL1	NM_182763.2,NM_021960.4,NM_001197320.1	,,	75,29,6153	A1A1,A1R,RR		1.3206,1.6432,1.4304	,,	,,		179,12335				SO:0001651	inframe_deletion	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551492_150551494delTCC	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.513_515delGGA	1.37:g.150551501_150551503delTCC	ENSP00000358022:p.Glu171del					MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del	p.ED171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	572_574	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		171			PEST-like.		B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	In_Frame_Del	DEL	ENST00000369026.2	37	c.513_515delGGA	CCDS957.1																																																																																				0.635	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		7	677						7	677	---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151318741	151318741	+	Frame_Shift_Del	DEL	G	G	-	rs548049340		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:151318741delG	ENST00000290524.4	-	3	234	c.56delC	c.(55-57)ccafs	p.P19fs	RFX5_ENST00000452671.2_Frame_Shift_Del_p.P19fs|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000452513.2_Frame_Shift_Del_p.P19fs|RFX5_ENST00000368870.2_Frame_Shift_Del_p.P19fs|RFX5_ENST00000478564.1_5'UTR	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCACCACCTGGGGGGGCCCT	0.557																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(55-57)cafs		regulatory factor X, 5 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151318741delG		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.56delC	1.37:g.151318741delG	ENSP00000290524:p.Pro19fs					RFX5_ENST00000452513.2_Frame_Shift_Del_p.P19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Frame_Shift_Del_p.P19fs|RFX5_ENST00000452671.2_Frame_Shift_Del_p.P19fs	p.P19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	234	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		19					B7Z848|D3DV19|E9PFU4|Q5VWC3	Frame_Shift_Del	DEL	ENST00000290524.4	37	c.56delC	CCDS994.1																																																																																				0.557	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		9	1087						9	1087	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152084657	152084658	+	In_Frame_Ins	INS	-	-	CTC	rs558731460		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:152084657_152084658insCTC	ENST00000368804.1	-	2	1034_1035	c.1035_1036insGAG	c.(1033-1038)gagagg>gagGAGagg	p.345_346insE		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	345	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctcgcgcctctcctcctgct	0.718																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1033-1038)gaggcg>gaGAGggcg		trichohyalin																																				SO:0001652	inframe_insertion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084657_152084658insCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1036_1038dupGAG	1.37:g.152084661_152084663dupCTC	ENSP00000357794:p.Glu345_Glu345dup						p.345_346EA>ERA	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1034_1035	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		345			5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.		Q5VUI3	In_Frame_Ins	INS	ENST00000368804.1	37	c.1035_1036insGAG	CCDS41396.1																																																																																				0.718	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		9	573						9	573	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gttfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCTGTGTTGGTTTTTTTGCCT	0.378																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(1963-1965)gtfs		DEAH (Asp-Glu-Ala-His) box helicase 9							171.0	155.0	160.0					1																	182845333		1858	4091	5949	SO:0001589	frameshift_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182845333delT	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1964delT	1.37:g.182845333delT	ENSP00000356520:p.Val655fs						p.V655fs	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			17	2074	+			655			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Del	DEL	ENST00000367549.3	37	c.1964delT	CCDS41444.1																																																																																				0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		10	1194						10	1194	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438072	204438072	+	Frame_Shift_Del	DEL	G	G	-	rs115574296		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:204438072delG	ENST00000367187.3	-	3	1415	c.859delC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCATAGGTGCGGGGGGGCACC	0.622																																						ENST00000367187.3																			1	Deletion - Frameshift(1)	p.R287fs*92(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(859-861)gcfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							57.0	65.0	62.0					1																	204438072		2203	4300	6503	SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438072delG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.859delC	1.37:g.204438072delG	ENSP00000356155:p.Arg287fs					PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs	p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1415	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Del	DEL	ENST00000367187.3	37	c.859delC	CCDS1446.1																																																																																				0.622	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		9	852						9	852	---	---	---	---
CR1L	1379	broad.mit.edu	37	1	207867814	207867814	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:207867814delA	ENST00000508064.2	+	5	640	c.580delA	c.(580-582)aaafs	p.K195fs	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	195	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGCAGAGGGAAAAAGGTGTT	0.507																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(580-582)aafs		complement component (3b/4b) receptor 1-like							215.0	196.0	202.0					1																	207867814		1922	4144	6066	SO:0001589	frameshift_variant	1379					cytoplasm|extracellular region|membrane		g.chr1:207867814delA	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.580delA	1.37:g.207867814delA	ENSP00000421736:p.Lys195fs					CR1L_ENST00000530905.1_Intron	p.K195fs	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			5	640	+			195			Sushi 3.		Q32MC9|Q8NEU7	Frame_Shift_Del	DEL	ENST00000508064.2	37	c.580delA	CCDS44310.1																																																																																				0.507	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		7	1394						7	1394	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(607-615)tgfs		olfactory receptor, family 2, subfamily T, member 2				51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616705_248616711delTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs						p.CCV203fs	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629_635	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203					B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	c.607_613delTGCTGCG	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		15	578						15	578	---	---	---	---
OR2T10	127069	broad.mit.edu	37	1	248756363	248756363	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr1:248756363delT	ENST00000330500.2	-	1	737	c.707delA	c.(706-708)aagfs	p.K236fs	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTGAAGGCCTTTTTCCGACC	0.478																																						ENST00000330500.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(706-708)agfs		olfactory receptor, family 2, subfamily T, member 10							91.0	87.0	88.0					1																	248756363		2049	4237	6286	SO:0001589	frameshift_variant	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756363delT		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.707delA	1.37:g.248756363delT	ENSP00000329210:p.Lys236fs						p.K236fs	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	737	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		236					B2RNK7	Frame_Shift_Del	DEL	ENST00000330500.2	37	c.707delA	CCDS31121.1																																																																																				0.478	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		7	541						7	541	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20494235	20494235	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:20494235delC	ENST00000361078.2	-	8	1076	c.1054delG	c.(1054-1056)gtgfs	p.V352fs	PUM2_ENST00000338086.5_Frame_Shift_Del_p.V352fs|PUM2_ENST00000403432.1_Frame_Shift_Del_p.V352fs|PUM2_ENST00000319801.5_Frame_Shift_Del_p.V352fs|PUM2_ENST00000536417.1_Frame_Shift_Del_p.V296fs			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	352	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGATACACCCCCCATGGA	0.507																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1054-1056)tgfs		pumilio RNA-binding family member 2							140.0	138.0	139.0					2																	20494235		2203	4300	6503	SO:0001589	frameshift_variant	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20494235delC	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1054delG	2.37:g.20494235delC	ENSP00000354370:p.Val352fs					PUM2_ENST00000536417.1_Frame_Shift_Del_p.V296fs|PUM2_ENST00000403432.1_Frame_Shift_Del_p.V352fs|PUM2_ENST00000319801.5_Frame_Shift_Del_p.V352fs|PUM2_ENST00000338086.5_Frame_Shift_Del_p.V352fs	p.V352fs			Q8TB72	PUM2_HUMAN			8	1076	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		352			Ala-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Frame_Shift_Del	DEL	ENST00000361078.2	37	c.1054delG																																																																																					0.507	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		7	1254						7	1254	---	---	---	---
HS1BP3	64342	broad.mit.edu	37	2	20840864	20840864	+	Frame_Shift_Del	DEL	G	G	-	rs77941615	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:20840864delG	ENST00000304031.3	-	3	300	c.275delC	c.(274-276)ccafs	p.P92fs	HS1BP3_ENST00000406618.3_Frame_Shift_Del_p.P92fs|HS1BP3_ENST00000402541.1_Frame_Shift_Del_p.P92fs	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	92	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGGTAGTGGGGGGAGGCT	0.537																																						ENST00000402541.1																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(274-276)cafs		HCLS1 binding protein 3							162.0	164.0	164.0					2																	20840864		2203	4300	6503	SO:0001589	frameshift_variant	64342				cell communication		phosphatidylinositol binding	g.chr2:20840864delG		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.275delC	2.37:g.20840864delG	ENSP00000305193:p.Pro92fs					HS1BP3_ENST00000304031.3_Frame_Shift_Del_p.P92fs|HS1BP3_ENST00000406618.3_Frame_Shift_Del_p.P92fs	p.P92fs			Q53T59	H1BP3_HUMAN			3	289	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		92			PX.		B2RAW2|D6W529|Q86VC2|Q8N367	Frame_Shift_Del	DEL	ENST00000304031.3	37	c.275delC	CCDS1700.1																																																																																				0.537	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		7	1597						7	1597	---	---	---	---
UGP2	7360	broad.mit.edu	37	2	64084969	64084969	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:64084969delA	ENST00000337130.5	+	3	630	c.154delA	c.(154-156)aaafs	p.K53fs	UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	53					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ACAGCACACCAAAAAAGACCT	0.358																																						ENST00000337130.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(154-156)aafs		UDP-glucose pyrophosphorylase 2							161.0	191.0	181.0					2																	64084969		2203	4300	6503	SO:0001589	frameshift_variant	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64084969delA		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.154delA	2.37:g.64084969delA	ENSP00000338703:p.Lys53fs					UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs|UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs	p.K53fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			3	630	+			53					Q07131|Q0P6K2|Q86Y81|Q9BU15	Frame_Shift_Del	DEL	ENST00000337130.5	37	c.154delA	CCDS1875.1																																																																																				0.358	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		7	2277						7	2277	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		7	1659						7	1659	---	---	---	---
CCDC74A	90557	broad.mit.edu	37	2	132290249	132290249	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:132290249delC	ENST00000295171.6	+	5	909	c.771delC	c.(769-771)cacfs	p.H257fs	CCDC74A_ENST00000409856.3_Frame_Shift_Del_p.H191fs|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	257										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CGGGGGCACACCCCCCAATGA	0.602																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(769-771)cafs		coiled-coil domain containing 74A							103.0	106.0	105.0					2																	132290249		2203	4300	6503	SO:0001589	frameshift_variant	90557							g.chr2:132290249delC		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.771delC	2.37:g.132290249delC	ENSP00000295171:p.His257fs					CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Frame_Shift_Del_p.H191fs	p.H257fs	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			5	909	+			257					Q6P4I5	Frame_Shift_Del	DEL	ENST00000295171.6	37	c.771delC	CCDS2167.1																																																																																				0.602	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		7	1037						7	1037	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152466345	152466345	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:152466345delT	ENST00000172853.10	-	77	11726	c.11579delA	c.(11578-11580)aagfs	p.K3860fs	NEB_ENST00000427231.2_Frame_Shift_Del_p.K4103fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.K4103fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.K3860fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.K4103fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.K4103fs			P20929	NEBU_HUMAN	nebulin	3860					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCATAGGCCTTTTTTGCTTG	0.448																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(12307-12309)agfs		nebulin							207.0	195.0	198.0					2																	152466345		1951	4146	6097	SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152466345delT	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11579delA	2.37:g.152466345delT	ENSP00000172853:p.Lys3860fs					NEB_ENST00000603639.1_Frame_Shift_Del_p.K4103fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.K4103fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.K3860fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.K4103fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.K3860fs	p.K4103fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	81	12510	-			4102					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	37	c.12308delA																																																																																					0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		7	1000						7	1000	---	---	---	---
TANK	10010	broad.mit.edu	37	2	162088014	162088014	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:162088014delT	ENST00000392749.2	+	7	1292	c.1053delT	c.(1051-1053)cctfs	p.P351fs	TANK_ENST00000259075.2_Frame_Shift_Del_p.P351fs|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron|TANK_ENST00000405852.1_Frame_Shift_Del_p.P351fs|AC009299.2_ENST00000421122.2_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	351					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CTGATGCACCTTTTCCCTCAC	0.438																																						ENST00000392749.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						c.(1051-1053)ccfs		TRAF family member-associated NFKB activator							60.0	58.0	58.0					2																	162088014		2203	4300	6503	SO:0001589	frameshift_variant	10010					cytosol	metal ion binding|protein binding	g.chr2:162088014delT	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1053delT	2.37:g.162088014delT	ENSP00000376505:p.Pro351fs					TANK_ENST00000402568.1_Intron|TANK_ENST00000405852.1_Frame_Shift_Del_p.P351fs|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000259075.2_Frame_Shift_Del_p.P351fs|AC009299.2_ENST00000445372.1_RNA	p.P351fs	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN			7	1292	+			351					D3DPB5|Q7Z4J6|Q92885	Frame_Shift_Del	DEL	ENST00000392749.2	37	c.1053delT	CCDS2215.1																																																																																				0.438	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		7	549						7	549	---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179343217	179343217	+	5'Flank	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:179343217delT	ENST00000234453.5	+	0	0				FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000424785.2_Frame_Shift_Del_p.T4fs	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAATGCATGGTTTTTGGCATC	0.522																																						ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(10-12)ccfs		FK506 binding protein 7							113.0	133.0	127.0					2																	179343217		2202	4300	6502	SO:0001631	upstream_gene_variant	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179343217delT	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343217delT	Exception_encountered					FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR	p.T4fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	68	-			4					Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	c.10delA	CCDS33336.1																																																																																				0.522	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		11	1859						11	1859	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:196788374delT	ENST00000312428.6	-	23	3870	c.3770delA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGCTAATATTTTTTTTTAC	0.418																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3769-3771)atfs		dynein, axonemal, heavy chain 7							103.0	95.0	97.0					2																	196788374		1906	4139	6045	SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788374delT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3770delA	2.37:g.196788374delT	ENSP00000311273:p.Asn1257fs						p.N1257fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3870	-			1257			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	ENST00000312428.6	37	c.3770delA	CCDS42794.1																																																																																				0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		14	396						14	396	---	---	---	---
CRYGA	1418	broad.mit.edu	37	2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:209025577delC	ENST00000304502.4	-	3	495	c.476delG	c.(475-477)ggtfs	p.G159fs		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	159	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GGCATCTGCACCCCCCCAGTC	0.532																																						ENST00000304502.4																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12						c.(475-477)gtfs		crystallin, gamma A							79.0	86.0	84.0					2																	209025577		2203	4300	6503	SO:0001589	frameshift_variant	1418							g.chr2:209025577delC		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.476delG	2.37:g.209025577delC	ENSP00000302105:p.Gly159fs						p.G159fs	NM_014617.3	NP_055432.2				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	3	495	-								Q53ST5	Frame_Shift_Del	DEL	ENST00000304502.4	37	c.476delG	CCDS33367.1																																																																																				0.532	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		9	1141						9	1141	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1975-1980)cct>c		tensin 1																																				SO:0001651	inframe_deletion	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712887_218712889delGCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del					TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del	p.QP659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2428_2430	-		Renal(207;0.0483)|Lung NSC(271;0.213)	659			Gln-rich.		Q4ZG71|Q6IPI5	In_Frame_Del	DEL	ENST00000171887.4	37	c.1976_1978delAGC	CCDS2407.1																																																																																				0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		12	214						12	214	---	---	---	---
AAMP	14	broad.mit.edu	37	2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-	rs368777489		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)ccafs	p.P15fs	PNKD_ENST00000273077.4_5'Flank|AAMP_ENST00000420660.1_5'Flank|AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs|PNKD_ENST00000248451.3_5'Flank			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617																																						ENST00000248450.4																			1	Insertion - Frameshift(1)	p.L16fs*9(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(43-45)cafs		angio-associated, migratory cell protein							151.0	171.0	164.0					2																	219134766		2203	4300	6503	SO:0001589	frameshift_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219134766delG	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"""WD repeat domain containing"""	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.44delC	2.37:g.219134766delG	ENSP00000248450:p.Pro15fs					AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs	p.P15fs			Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	214	-		Renal(207;0.0474)	15					Q8WUJ9|Q96H92	Frame_Shift_Del	DEL	ENST00000248450.4	37	c.44delC	CCDS33378.1																																																																																				0.617	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		8	2830						8	2830	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679486	42679486	+	Frame_Shift_Del	DEL	A	A	-	rs150528581	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:42679486delA	ENST00000232978.8	+	13	2478	c.2290delA	c.(2290-2292)aaafs	p.K765fs	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	765	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATCCAGTGGGAAAAAAAATAG	0.378																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(2290-2292)aafs		natural killer-tumor recognition sequence							86.0	86.0	86.0					3																	42679486		2203	4300	6503	SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679486delA		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2290delA	3.37:g.42679486delA	ENSP00000232978:p.Lys765fs					RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.K765fs	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2478	+			765			Arg/Ser-rich.			Frame_Shift_Del	DEL	ENST00000232978.8	37	c.2290delA	CCDS2702.1																																																																																				0.378	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		9	567						9	567	---	---	---	---
ITIH4	3700	broad.mit.edu	37	3	52847474	52847474	+	Frame_Shift_Del	DEL	G	G	-	rs140372968		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:52847474delG	ENST00000266041.4	-	24	2852	c.2756delC	c.(2755-2757)ccgfs	p.P919fs	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.P903fs|ITIH4_ENST00000406595.1_Frame_Shift_Del_p.P889fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.P924fs	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	919					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTCCACTCCCGGGGGCCCCTC	0.582																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(2755-2757)cgfs		inter-alpha-trypsin inhibitor heavy chain family, member 4							65.0	74.0	71.0					3																	52847474		2203	4300	6503	SO:0001589	frameshift_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52847474delG	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2756delC	3.37:g.52847474delG	ENSP00000266041:p.Pro919fs					ITIH4_ENST00000485816.1_Frame_Shift_Del_p.P924fs|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.P903fs|ITIH4_ENST00000406595.1_Frame_Shift_Del_p.P889fs	p.P919fs	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	24	2852	-			919					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Frame_Shift_Del	DEL	ENST00000266041.4	37	c.2756delC	CCDS2865.1																																																																																				0.582	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		8	863						8	863	---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71247357	71247359	+	In_Frame_Del	DEL	TGC	TGC	-	rs370638902		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:71247357_71247359delTGC	ENST00000318789.4	-	6	699_701	c.174_176delGCA	c.(172-177)cagcaa>caa	p.58_59QQ>Q	FOXP1_ENST00000468577.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000475937.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000498215.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000484350.1_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000318779.3_In_Frame_Del_p.58_59QQ>Q|FOXP1_ENST00000493089.1_In_Frame_Del_p.58_59QQ>Q	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	58	Gln-rich.	Breakpoint for translocation to form PAX5-FOXP1.			negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CAGTACCTGTTGCTGCTGCTGCT	0.586			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(172-177)caa>ca		forkhead box P1																																				SO:0001651	inframe_deletion	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71247357_71247359delTGC	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.174_176delGCA	3.37:g.71247366_71247368delTGC	ENSP00000318902:p.Gln60del					FOXP1_ENST00000475937.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000498215.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000318779.3_In_Frame_Del_p.QQ58del|FOXP1_ENST00000468577.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000493089.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000484350.1_In_Frame_Del_p.QQ58del	p.QQ58del	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	6	699_701	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	58			Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	In_Frame_Del	DEL	ENST00000318789.4	37	c.174_176delGCA	CCDS2914.1																																																																																				0.586	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		8	517						8	517	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		8	491						8	491	---	---	---	---
CPEB2	132864	broad.mit.edu	37	4	15067858	15067858	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:15067858delT	ENST00000507071.1	+	11	1711	c.1624delT	c.(1624-1626)tttfs	p.F543fs	CPEB2_ENST00000259997.5_Frame_Shift_Del_p.F551fs|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382395.3_Frame_Shift_Del_p.F521fs|CPEB2_ENST00000541112.1_Frame_Shift_Del_p.F980fs|CPEB2_ENST00000442003.2_Frame_Shift_Del_p.F961fs|CPEB2_ENST00000382401.3_Frame_Shift_Del_p.F516fs|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000345451.3_Frame_Shift_Del_p.F513fs|CPEB2_ENST00000538197.1_Frame_Shift_Del_p.F988fs			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	543					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						ATTTGCTCCCTTTTTTTGTGC	0.443																																						ENST00000538197.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(2959-2961)ttfs		cytoplasmic polyadenylation element binding protein 2							272.0	250.0	257.0					4																	15067858		2203	4300	6503	SO:0001589	frameshift_variant	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15067858delT	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1624delT	4.37:g.15067858delT	ENSP00000424084:p.Phe543fs					CPEB2_ENST00000259997.5_Frame_Shift_Del_p.F551fs|RP11-665G4.1_ENST00000502344.1_RNA|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Frame_Shift_Del_p.F513fs|CPEB2_ENST00000541112.1_Frame_Shift_Del_p.F980fs|CPEB2_ENST00000442003.2_Frame_Shift_Del_p.F961fs|CPEB2_ENST00000507071.1_Frame_Shift_Del_p.F543fs|CPEB2_ENST00000382395.3_Frame_Shift_Del_p.F521fs|CPEB2_ENST00000382401.3_Frame_Shift_Del_p.F516fs	p.F988fs	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN			12	2959	+			543					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Frame_Shift_Del	DEL	ENST00000507071.1	37	c.2959delT																																																																																					0.443	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		7	996						7	996	---	---	---	---
CCKAR	886	broad.mit.edu	37	4	26483672	26483674	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:26483672_26483674delCTG	ENST00000295589.3	-	5	1067_1069	c.873_875delCAG	c.(871-876)agcagg>agg	p.S291del		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	291					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GCGGTTGGCCCTGCTGCTGCTGC	0.606																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(871-876)agg>ag		cholecystokinin A receptor	Ceruletide(DB00403)																																			SO:0001651	inframe_deletion	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483672_26483674delCTG	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.873_875delCAG	4.37:g.26483681_26483683delCTG	ENSP00000295589:p.Ser291del						p.SR291del	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1067_1069	-		Breast(46;0.0503)	291					B2R9Z5	In_Frame_Del	DEL	ENST00000295589.3	37	c.873_875delCAG	CCDS3438.1																																																																																				0.606	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			8	811						8	811	---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40144449	40144449	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:40144449delA	ENST00000261435.6	+	15	5358	c.4942delA	c.(4942-4944)aaafs	p.K1649fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1649					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCGGATAGGGAAAAAAAATGT	0.398																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4942-4944)aafs		NEDD4 binding protein 2							88.0	88.0	88.0					4																	40144449		2203	4300	6503	SO:0001589	frameshift_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40144449delA	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4942delA	4.37:g.40144449delA	ENSP00000261435:p.Lys1649fs						p.K1649fs	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			15	5358	+			1649					A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Del	DEL	ENST00000261435.6	37	c.4942delA	CCDS3457.1																																																																																				0.398	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		8	623						8	623	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57182265	57182267	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr4:57182265_57182267delAGA	ENST00000504228.1	+	6	2702_2704	c.2597_2599delAGA	c.(2596-2601)cagaag>cag	p.K870del	KIAA1211_ENST00000264229.6_In_Frame_Del_p.K870del|KIAA1211_ENST00000541073.1_In_Frame_Del_p.K863del			Q6ZU35	K1211_HUMAN	KIAA1211	870	Poly-Lys.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGGCAGAACAGAAGAAGAAGAA	0.567																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2596-2601)cag>c		KIAA1211				13,4193		0,13,2090						4.9	0.2			52	31,8179		2,27,4076	no	coding	KIAA1211	NM_020722.1		2,40,6166	A1A1,A1R,RR		0.3776,0.3091,0.3544				44,12372				SO:0001651	inframe_deletion	57482							g.chr4:57182265_57182267delAGA	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2597_2599delAGA	4.37:g.57182274_57182276delAGA	ENSP00000423366:p.Lys870del					KIAA1211_ENST00000541073.1_In_Frame_Del_p.QK859del|KIAA1211_ENST00000264229.6_In_Frame_Del_p.QK866del	p.QK866del			Q6ZU35	K1211_HUMAN			6	2702_2704	+	Glioma(25;0.08)|all_neural(26;0.101)		866					Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Del	DEL	ENST00000504228.1	37	c.2597_2599delAGA	CCDS43230.1																																																																																				0.567	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		7	370						7	370	---	---	---	---
NKD2	85409	broad.mit.edu	37	5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-	rs3840989		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(1315-1317)del		naked cuticle homolog 2 (Drosophila)																																				SO:0001651	inframe_deletion	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038447_1038449delCAC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del					NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del|NKD2_ENST00000274150.4_3'UTR	p.H447del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1544_1546	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		447			His-rich.		Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	c.1315_1317delCAC	CCDS3859.1																																																																																				0.690	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		11	24						11	24	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:149216400_149216402delCAG	ENST00000309241.5	+	8	2414_2416	c.2382_2384delCAG	c.(2380-2385)gacagc>gac	p.S799del	PPARGC1B_ENST00000394320.3_In_Frame_Del_p.S799del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.S735del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.S760del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	799	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)	p.S795N(1)		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)			TCTTTGAAGACAGCAGCAGCAGC	0.601																																						ENST00000309241.5																			1	Substitution - Missense(1)	p.S795N(1)	breast(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2380-2385)gac>ga		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.chr5:149216400_149216402delCAG	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.2382_2384delCAG	5.37:g.149216409_149216411delCAG	ENSP00000312649:p.Ser799del					PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del	p.DS794del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2414_2416	+			794			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2382_2384delCAG	CCDS4298.1																																																																																				0.601	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		28	911						28	911	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	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_ENST00000394320.3_In_Frame_Del_p.GE813del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del	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		7	606						7	606	---	---	---	---
GEMIN5	25929	broad.mit.edu	37	5	154287370	154287370	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr5:154287370delT	ENST00000285873.7	-	16	2251	c.2176delA	c.(2176-2178)agtfs	p.S726fs		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	726					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATTCAATACTTTTTTTGCCT	0.373																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2176-2178)gtfs		gem (nuclear organelle) associated protein 5							109.0	112.0	111.0					5																	154287370		2203	4300	6503	SO:0001589	frameshift_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154287370delT	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2176delA	5.37:g.154287370delT	ENSP00000285873:p.Ser726fs						p.S726fs	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		16	2251	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	726					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Frame_Shift_Del	DEL	ENST00000285873.7	37	c.2176delA	CCDS4330.1																																																																																				0.373	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			7	574						7	574	---	---	---	---
RANBP9	10048	broad.mit.edu	37	6	13632610	13632610	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:13632610delT	ENST00000011619.3	-	12	1997	c.1939delA	c.(1939-1941)atgfs	p.M647fs	NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000539980.1_Frame_Shift_Del_p.M418fs|RANBP9_ENST00000469916.1_5'UTR	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	647	Interaction with FMR1.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ACCTTCAACATTTTTTTGTTT	0.378																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1939-1941)tgfs		RAN binding protein 9							147.0	140.0	143.0					6																	13632610		2203	4300	6503	SO:0001589	frameshift_variant	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13632610delT	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1939delA	6.37:g.13632610delT	ENSP00000011619:p.Met647fs					RANBP9_ENST00000469916.1_5'UTR|RANBP9_ENST00000539980.1_Frame_Shift_Del_p.M418fs|NOL7_ENST00000474485.1_Intron	p.M647fs	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		12	1997	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	647			Interaction with FMR1.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Frame_Shift_Del	DEL	ENST00000011619.3	37	c.1939delA	CCDS4529.1																																																																																				0.378	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			9	802						9	802	---	---	---	---
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	TCC	-	rs377513079		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:18264079_18264081delTCC	ENST00000397239.3	-	2	585_587	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	DEK_ENST00000244776.7_In_Frame_Del_p.46_47EE>E	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	46	Asp/Glu-rich (highly acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML																																	ENST00000397239.3				Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(136-141)gaa>ga		DEK oncogene			,	77,1,4184		12,0,53,0,1,2065					,	-0.3	1.0			50	90,5,8159		17,0,56,0,5,4049	no	codingComplex,codingComplex	DEK	NM_003472.3,NM_001134709.1	,	29,0,109,0,6,6114	A1A1,A1A2,A1R,A2A2,A2R,RR		1.151,1.8301,1.3822	,	,		167,6,12343				SO:0001651	inframe_deletion	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18264079_18264081delTCC	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.138_140delGGA	6.37:g.18264088_18264090delTCC	ENSP00000380414:p.Glu47del					DEK_ENST00000244776.7_In_Frame_Del_p.EE46del	p.EE46del	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		2	585_587	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	46			Asp/Glu-rich (highly acidic).		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	In_Frame_Del	DEL	ENST00000397239.3	37	c.138_140delGGA	CCDS34344.1																																																																																				0.532	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			8	548						8	548	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34804004	34804006	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:34804004_34804006delCAG	ENST00000192788.5	+	8	1083_1085	c.912_914delCAG	c.(910-915)aacagc>aac	p.S308del	UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.S308del	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	308							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCAACAGCAACAGCAGCAGCAGC	0.552																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(910-915)aac>aa		UHRF1 binding protein 1																																				SO:0001651	inframe_deletion	54887							g.chr6:34804004_34804006delCAG	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.912_914delCAG	6.37:g.34804013_34804015delCAG	ENSP00000192788:p.Ser308del					UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.NS304del	p.NS304del	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			8	1083_1085	+			304					Q9NXE0	In_Frame_Del	DEL	ENST00000192788.5	37	c.912_914delCAG	CCDS43455.1																																																																																				0.552	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		7	1552						7	1552	---	---	---	---
STK38	11329	broad.mit.edu	37	6	36475332	36475332	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:36475332delT	ENST00000229812.7	-	8	1002	c.717delA	c.(715-717)aaafs	p.K239fs	Z85986.1_ENST00000583113.1_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTATGTGCTTTTTTCAGTC	0.423																																					Colon(180;997 3561 16158)	ENST00000229812.7																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(715-717)aafs		serine/threonine kinase 38							247.0	259.0	255.0					6																	36475332		2203	4300	6503	SO:0001589	frameshift_variant	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36475332delT		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.717delA	6.37:g.36475332delT	ENSP00000229812:p.Lys239fs						p.K239fs	NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN			8	1002	-			239			Protein kinase.			Frame_Shift_Del	DEL	ENST00000229812.7	37	c.717delA	CCDS4822.1																																																																																				0.423	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		9	2084						9	2084	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	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		11	796						11	796	---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)actfs	p.T871fs	AARS2_ENST00000491573.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCTCCTGAGTTTTCTTTGCA	0.584																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2611-2613)tcafs		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)																																			SO:0001589	frameshift_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44269188_44269189insT	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2612dupA	6.37:g.44269192_44269192dupT	ENSP00000244571:p.Thr871fs					TMEM151B_ENST00000438774.2_Intron	p.S871fs	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2613_2614	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		871						Frame_Shift_Ins	INS	ENST00000244571.4	37	c.2611_2612insA	CCDS34464.1																																																																																				0.584	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		9	967						9	967	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85446744	85446744	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:85446744delG	ENST00000369663.5	-	8	1820	c.1483delC	c.(1483-1485)cagfs	p.Q495fs	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	495					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TACTGGAGCTGGGGGGACATT	0.537																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1483-1485)agfs		T-box 18							162.0	167.0	166.0					6																	85446744		2203	4300	6503	SO:0001589	frameshift_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446744delG	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1483delC	6.37:g.85446744delG	ENSP00000358677:p.Gln495fs					TBX18_ENST00000606784.1_Intron	p.Q495fs	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1820	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	495					A2RU13|Q7Z6U4|Q9UJI6	Frame_Shift_Del	DEL	ENST00000369663.5	37	c.1483delC	CCDS34495.1																																																																																				0.537	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		8	1467						8	1467	---	---	---	---
TBP	6908	broad.mit.edu	37	6	170871047	170871049	+	In_Frame_Del	DEL	CAG	CAG	-	rs369312237|rs56241301		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr6:170871047_170871049delCAG	ENST00000392092.2	+	3	502_504	c.223_225delCAG	c.(223-225)cagdel	p.Q95del	TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing. {ECO:0000269|PubMed:2374612}.	Missing (in Ref. 4; BAG65425). {ECO:0000305}.	cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|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 from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcaacagcaacagcagcagcagc	0.571																																						ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q75Q(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(223-225)del		TATA box binding protein																																				SO:0001651	inframe_deletion	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871047_170871049delCAG	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.223_225delCAG	6.37:g.170871056_170871058delCAG	ENSP00000375942:p.Gln95del					TBP_ENST00000230354.6_In_Frame_Del_p.Q95del|TBP_ENST00000540980.1_In_Frame_Del_p.Q75del	p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	502_504	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	95		Missing.	Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Del	DEL	ENST00000392092.2	37	c.223_225delCAG	CCDS5315.1																																																																																				0.571	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		7	386						7	386	---	---	---	---
SUGCT	79783	broad.mit.edu	37	7	40899967	40899967	+	Frame_Shift_Del	DEL	G	G	-	rs2010706	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:40899967delG	ENST00000335693.4	+	14	1250	c.1227delG	c.(1225-1227)ccgfs	p.P409fs	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000309930.5_Frame_Shift_Del_p.P435fs|C7orf10_ENST00000401647.2_Frame_Shift_Del_p.P361fs	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		409					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GGCCGCCCCCGCTGCTCGGGC	0.577																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1303-1305)ccfs		chromosome 7 open reading frame 10							99.0	109.0	106.0					7																	40899967		2095	4226	6321	SO:0001589	frameshift_variant	79783						transferase activity	g.chr7:40899967delG																												ENST00000335693.4:c.1227delG	7.37:g.40899967delG	ENSP00000338475:p.Pro409fs					C7orf10_ENST00000401647.2_Frame_Shift_Del_p.P361fs|C7orf10_ENST00000335693.4_Frame_Shift_Del_p.P409fs|C7orf10_ENST00000464028.1_3'UTR	p.P435fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			15	1329	+			409					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Frame_Shift_Del	DEL	ENST00000335693.4	37	c.1305delG	CCDS55105.1																																																																																				0.577	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			9	1247						9	1247	---	---	---	---
STAG3L4	64940	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66772495delT			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66772495delT								NR_040586.1		Q8TBR4	STG34_HUMAN			0	362	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	DEL	ENST00000416602.2	37																																																																																						0.423	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		7	21						7	21	---	---	---	---
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:73123425_73123427delCAT	ENST00000222812.3	-	2	82_84	c.56_58delATG	c.(55-60)gatgtc>gtc	p.D19del	MIR4284_ENST00000578924.1_RNA|STX1A_ENST00000395155.3_In_Frame_Del_p.D19del|STX1A_ENST00000395154.3_In_Frame_Del_p.D19del|STX1A_ENST00000395156.3_In_Frame_Del_p.D19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	19					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(55-60)gtc>g		syntaxin 1A (brain)																																				SO:0001651	inframe_deletion	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73123425_73123427delCAT		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.56_58delATG	7.37:g.73123434_73123436delCAT	ENSP00000222812:p.Asp19del					STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del	p.DV19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN			2	82_84	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	19					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	In_Frame_Del	DEL	ENST00000222812.3	37	c.56_58delATG	CCDS34655.1																																																																																				0.586	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		11	871						11	871	---	---	---	---
FGL2	10875	broad.mit.edu	37	7	76828879	76828881	+	In_Frame_Del	DEL	CCT	CCT	-	rs375839514		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:76828879_76828881delCCT	ENST00000248598.5	-	1	262_264	c.230_232delAGG	c.(229-234)gaggtg>gtg	p.E77del	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	77						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCTTTGAACACCTCCTCGATCCT	0.517																																						ENST00000248598.5																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(229-234)gtg>g		fibrinogen-like 2																																				SO:0001651	inframe_deletion	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76828879_76828881delCCT	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.230_232delAGG	7.37:g.76828882_76828884delCCT	ENSP00000248598:p.Glu77del					CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	p.EV77del	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN			1	262_264	-			77						In_Frame_Del	DEL	ENST00000248598.5	37	c.230_232delAGG	CCDS5591.1																																																																																				0.517	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		15	678						15	678	---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92923947	92923948	+	Splice_Site	INS	-	-	G	rs140810598		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:92923947_92923948insG	ENST00000305866.5	+	14	1294_1295	c.1166_1167insG	c.(1165-1170)caggat>caGggat	p.D390fs	CCDC132_ENST00000544910.1_Splice_Site_p.D360fs|CCDC132_ENST00000541136.1_Splice_Site_p.D201fs|CCDC132_ENST00000535481.1_Splice_Site_p.D110fs|CCDC132_ENST00000317751.6_Splice_Site_p.D121fs	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	390						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CGAATATGGCAGGTTTGGtttt	0.272																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.e15+1		coiled-coil domain containing 132																																				SO:0001630	splice_region_variant	55610							g.chr7:92923947_92923948insG	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1167+1->G	7.37:g.92923949_92923949dupG						CCDC132_ENST00000305866.5_Splice_Site_p.R389_splice|CCDC132_ENST00000535481.1_Splice_Site_p.R109_splice|CCDC132_ENST00000317751.6_Splice_Site_p.R120_splice|CCDC132_ENST00000541136.1_Splice_Site_p.R200_splice	p.R359_splice	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		15	1296_1297	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		389					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Splice_Site	INS	ENST00000305866.5	37	c.1077_splice	CCDS43617.1																																																																																				0.272	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	Frame_Shift_Ins	7	742						7	742	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100482040	100482042	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:100482040_100482042delAGG	ENST00000347433.4	+	7	967_969	c.809_811delAGG	c.(808-813)caggag>cag	p.E275del	SRRT_ENST00000432932.1_In_Frame_Del_p.E275del|SRRT_ENST00000457580.2_In_Frame_Del_p.E275del|SRRT_ENST00000388793.4_In_Frame_Del_p.E275del			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	275	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCTGGAGCAGGAGGAGGAGGA	0.596																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(808-813)cag>c		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001651	inframe_deletion	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482040_100482042delAGG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.809_811delAGG	7.37:g.100482049_100482051delAGG	ENSP00000314491:p.Glu275del					SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del|SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del|SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del	p.QE270del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			7	1029_1031	+			270			Glu-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	In_Frame_Del	DEL	ENST00000347433.4	37	c.809_811delAGG	CCDS34709.1																																																																																				0.596	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		8	251						8	251	---	---	---	---
FAM71F1	84691	broad.mit.edu	37	7	128356955	128356956	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:128356955_128356956insC	ENST00000315184.5	+	2	391_392	c.338_339insC	c.(337-342)ctccccfs	p.LP113fs	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Frame_Shift_Ins_p.P35fs	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	113										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGCCTGCCCCTCCCCAACATCC	0.569																																						ENST00000315184.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(337-339)cccfs		family with sequence similarity 71, member F1																																				SO:0001589	frameshift_variant	84691							g.chr7:128356955_128356956insC	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.342dupC	7.37:g.128356959_128356959dupC	ENSP00000326652:p.Leu113fs					FAM71F1_ENST00000485070.1_Frame_Shift_Ins_p.PP34fs|FAM71F1_ENST00000469348.1_3'UTR	p.P113fs	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN			2	391_392	+			113					Q8IY75|Q8NA48	Frame_Shift_Ins	INS	ENST00000315184.5	37	c.338_339insC	CCDS5804.1																																																																																				0.569	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		8	285						8	285	---	---	---	---
TAS2R4	50832	broad.mit.edu	37	7	141478534	141478534	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:141478534delT	ENST00000247881.2	+	1	293	c.246delT	c.(244-246)gctfs	p.A82fs	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	82					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		ACCTGTCTGCTTTTTTTGTGT	0.428																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(244-246)gcfs		taste receptor, type 2, member 4							249.0	223.0	232.0					7																	141478534		2203	4300	6503	SO:0001589	frameshift_variant	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478534delT	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.246delT	7.37:g.141478534delT	ENSP00000247881:p.Ala82fs					SSBP1_ENST00000465582.1_Intron	p.A82fs	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	293	+	Melanoma(164;0.0171)		82					Q645W5|Q75MV8	Frame_Shift_Del	DEL	ENST00000247881.2	37	c.246delT	CCDS5868.1																																																																																				0.428	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			7	872						7	872	---	---	---	---
TRBV7-7	28591	broad.mit.edu	37	7	142120214	142120215	+	RNA	DEL	AC	AC	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr7:142120214_142120215delAC	ENST00000390377.1	-	0	49									T cell receptor beta variable 7-7																		acacatgcatacacacacacac	0.436																																						ENST00000390377.1																			0																																																			0							g.chr7:142120214_142120215delAC	L36092		7q34	2012-02-07			ENSG00000253291	ENSG00000253291		"""T cell receptors / TRB locus"""	12241	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV77, TCRBV6S6A2T, TCRBV7S7			OTTHUMG00000158872		7.37:g.142120224_142120225delAC														0	49	-									RNA	DEL	ENST00000390377.1	37																																																																																						0.436	TRBV7-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352480.1	NG_001333		7	473						7	473	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18729796	18729796	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:18729796delT	ENST00000327040.8	-	3	680	c.578delA	c.(577-579)aatfs	p.N193fs	PSD3_ENST00000523619.1_Frame_Shift_Del_p.N128fs|PSD3_ENST00000440756.2_Frame_Shift_Del_p.N193fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	193					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCTGGTAAATTTTTTTGGCC	0.438																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(577-579)atfs		pleckstrin and Sec7 domain containing 3							98.0	95.0	96.0					8																	18729796		1850	4089	5939	SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729796delT	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.578delA	8.37:g.18729796delT	ENSP00000324127:p.Asn193fs					PSD3_ENST00000327040.8_Frame_Shift_Del_p.N193fs|PSD3_ENST00000523619.1_Frame_Shift_Del_p.N128fs	p.N193fs			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	680	-			193					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Del	DEL	ENST00000327040.8	37	c.578delA	CCDS43720.1																																																																																				0.438	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		7	919						7	919	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61735158	61735158	+	Frame_Shift_Del	DEL	T	T	-	rs201320784		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:61735158delT	ENST00000423902.2	+	12	3533	c.3054delT	c.(3052-3054)cctfs	p.P1018fs	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Frame_Shift_Del_p.P1018fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1018	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCATGGCCCTTTTTTAGTAA	0.418																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(3052-3054)ccfs		chromodomain helicase DNA binding protein 7							171.0	166.0	168.0					8																	61735158		1840	4084	5924	SO:0001589	frameshift_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61735158delT	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3054delT	8.37:g.61735158delT	ENSP00000392028:p.Pro1018fs					CHD7_ENST00000525508.1_Frame_Shift_Del_p.P1018fs|CHD7_ENST00000524602.1_Intron	p.P1018fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		12	3533	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1018			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Frame_Shift_Del	DEL	ENST00000423902.2	37	c.3054delT	CCDS47865.1																																																																																				0.418	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		8	1359						8	1359	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68076631	68076631	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:68076631delA	ENST00000262210.5	+	22	2732	c.2701delA	c.(2701-2703)aaafs	p.K902fs	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Frame_Shift_Del_p.K557fs	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	937					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGCAGAGGAGAAAAAAAATGT	0.343																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2701-2703)aafs		centrosome and spindle pole associated protein 1							77.0	74.0	75.0					8																	68076631		1810	4077	5887	SO:0001589	frameshift_variant	79848					centrosome|microtubule|spindle		g.chr8:68076631delA	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2701delA	8.37:g.68076631delA	ENSP00000262210:p.Lys902fs					CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Frame_Shift_Del_p.K557fs	p.K902fs	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		22	2732	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	937					A6ND63|Q70F00|Q8TBC1	Frame_Shift_Del	DEL	ENST00000262210.5	37	c.2701delA	CCDS43744.1																																																																																				0.343	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		8	506						8	506	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100654474	100654474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:100654474delA	ENST00000358544.2	+	34	5842	c.5731delA	c.(5731-5733)aaafs	p.K1912fs	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.K1887fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1912					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCTTCAGGGAAAAAAATAGG	0.458																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(5731-5733)aafs		vacuolar protein sorting 13 homolog B (yeast)							109.0	118.0	115.0					8																	100654474		2203	4300	6503	SO:0001589	frameshift_variant	157680				protein transport			g.chr8:100654474delA	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5731delA	8.37:g.100654474delA	ENSP00000351346:p.Lys1912fs					VPS13B_ENST00000357162.2_Frame_Shift_Del_p.K1887fs|VPS13B_ENST00000395996.1_3'UTR	p.K1912fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		34	5842	+	Breast(36;3.73e-07)		1912					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	ENST00000358544.2	37	c.5731delA	CCDS6280.1																																																																																				0.458	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		8	1052						8	1052	---	---	---	---
RP11-1082L8.3	0	broad.mit.edu	37	8	125854794	125854794	+	lincRNA	DEL	C	C	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:125854794delC	ENST00000533496.1	-	0	154																											CAGTAGTCTGCCCCCACCTGC	0.522																																						ENST00000533496.1																			0																																																			0							g.chr8:125854794delC																													8.37:g.125854794delC														0	154	-									RNA	DEL	ENST00000533496.1	37																																																																																						0.522	RP11-1082L8.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000381819.1			2	4						2	4	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144890900	144890902	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr8:144890900_144890902delTCC	ENST00000320476.3	-	15	1998_2000	c.1992_1994delGGA	c.(1990-1995)gaggaa>gaa	p.664_665EE>E	SCRIB_ENST00000377533.3_In_Frame_Del_p.583_584EE>E|SCRIB_ENST00000356994.2_In_Frame_Del_p.664_665EE>E	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	664	Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			actaccctcttcctcctcctcct	0.665																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1990-1995)gaa>ga		scribbled planar cell polarity protein																																				SO:0001651	inframe_deletion	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144890900_144890902delTCC	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1992_1994delGGA	8.37:g.144890909_144890911delTCC	ENSP00000322938:p.Glu666del					SCRIB_ENST00000377533.3_In_Frame_Del_p.EE583del|SCRIB_ENST00000320476.3_In_Frame_Del_p.EE664del	p.EE664del	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	1998_2000	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		664			Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	In_Frame_Del	DEL	ENST00000320476.3	37	c.1992_1994delGGA	CCDS6411.1																																																																																				0.665	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		8	346						8	346	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20414278	20414280	+	In_Frame_Del	DEL	CTG	CTG	-	rs200928326		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:20414278_20414280delCTG	ENST00000380338.4	-	5	850_852	c.564_566delCAG	c.(562-567)agcagt>agt	p.188_189SS>S	MLLT3_ENST00000429426.2_In_Frame_Del_p.185_186SS>S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	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_ENST00000429426.2_In_Frame_Del_p.SS185del|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_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		7	929						7	929	---	---	---	---
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-	rs200487787	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcgfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													g|G|-|deletion	1256	0.250799	0.2352	0.2061	5008	,	,		15575	0.3968		0.174	False		,,,				2504	0.2321					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1597-1599)gcfs		contactin associated protein-like 3B																																				SO:0001589	frameshift_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43844265delG	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1599delG	9.37:g.43844265delG	ENSP00000366787:p.Ala533fs						p.A533fs	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			10	1992	+			533			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Frame_Shift_Del	DEL	ENST00000377564.3	37	c.1599delG	CCDS55312.1																																																																																				0.542	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			9	157						9	157	---	---	---	---
SPATA31D5P	347127	broad.mit.edu	37	9	84528568	84528568	+	RNA	DEL	A	A	-	rs141534101	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:84528568delA	ENST00000527857.1	+	0	217					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		AATGATATCCAAAAGGTAAGG	0.398													|||unknown(ALL_OTHER_Ns)	55	0.0109824	0.0023	0.0202	5008	,	,		20180	0.0		0.0378	False		,,,				2504	0.0					ENST00000527857.1																			0																																																			0							g.chr9:84528568delA			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84528568delA								NR_026851.1						0	217	+									RNA	DEL	ENST00000527857.1	37																																																																																						0.398	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		7	15						7	15	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	TCC	-	rs137929518	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:95277146_95277148delTCC	ENST00000344604.5	-	4	968_970	c.819_821delGGA	c.(817-822)gaggat>gat	p.E273del	ECM2_ENST00000444490.2_In_Frame_Del_p.E251del|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(817-822)gat>ga		extracellular matrix protein 2, female organ and adipocyte specific																																				SO:0001651	inframe_deletion	1842				cell-matrix adhesion		integrin binding	g.chr9:95277146_95277148delTCC	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.819_821delGGA	9.37:g.95277155_95277157delTCC	ENSP00000344758:p.Glu273del					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del	p.ED273del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	968_970	-			273			Poly-Glu.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	In_Frame_Del	DEL	ENST00000344604.5	37	c.819_821delGGA	CCDS6698.1																																																																																				0.606	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		11	958						11	958	---	---	---	---
RP11-202G18.1	0	broad.mit.edu	37	9	113915201	113915203	+	lincRNA	DEL	AGG	AGG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:113915201_113915203delAGG	ENST00000426204.1	-	0	370																											aggaggaggaaggaggaggagga	0.616																																						ENST00000426204.1																			0																																																			0							g.chr9:113915201_113915203delAGG																													9.37:g.113915210_113915212delAGG														0	370	-									RNA	DEL	ENST00000426204.1	37																																																																																						0.616	RP11-202G18.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000053635.1			4	3						4	3	---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131864814	131864814	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr9:131864814delC	ENST00000318080.2	-	5	789	c.495delG	c.(493-495)gggfs	p.G165fs	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	165					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ACAGTGGCTTCCCCCCCAGGT	0.607																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(493-495)ggfs		carnitine O-acetyltransferase	L-Carnitine(DB00583)						196.0	189.0	191.0					9																	131864814		2203	4300	6503	SO:0001589	frameshift_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864814delC	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.495delG	9.37:g.131864814delC	ENSP00000315013:p.Gly165fs					CRAT_ENST00000464290.1_5'UTR	p.G165fs	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	5	789	-			165					Q5T952|Q9BW16	Frame_Shift_Del	DEL	ENST00000318080.2	37	c.495delG	CCDS6919.1																																																																																				0.607	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			7	2021						7	2021	---	---	---	---
SFXN3	81855	broad.mit.edu	37	10	102798946	102798946	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:102798946delC	ENST00000224807.5	+	11	1304	c.848delC	c.(847-849)accfs	p.T283fs	SFXN3_ENST00000393459.1_Frame_Shift_Del_p.T279fs|SFXN3_ENST00000466982.1_3'UTR	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	283					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GTATTTGCAACCCCCCTGTGC	0.577																																						ENST00000393459.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(835-837)acfs		sideroflexin 3							102.0	91.0	95.0					10																	102798946		2203	4300	6503	SO:0001589	frameshift_variant	81855				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:102798946delC	AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"""Sideroflexins"""	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.848delC	10.37:g.102798946delC	ENSP00000224807:p.Thr283fs					SFXN3_ENST00000224807.5_Frame_Shift_Del_p.T283fs|SFXN3_ENST00000466982.1_3'UTR	p.T279fs			Q9BWM7	SFXN3_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	11	1309	+		Colorectal(252;0.234)	283					Q8NCJ0|Q9NTP4	Frame_Shift_Del	DEL	ENST00000224807.5	37	c.836delC	CCDS7508.2																																																																																				0.577	SFXN3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_030971		7	943						7	943	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103908248	103908248	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:103908248delC	ENST00000278070.2	+	10	4559	c.4520delC	c.(4519-4521)tccfs	p.S1507fs	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Frame_Shift_Del_p.S474fs|PPRC1_ENST00000413464.2_Frame_Shift_Del_p.S1243fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1507	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGATCCCCATCCCCCCGCCGG	0.557																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4519-4521)tcfs		peroxisome proliferator-activated receptor gamma, coactivator-related 1							113.0	100.0	104.0					10																	103908248		2203	4300	6503	SO:0001589	frameshift_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908248delC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4520delC	10.37:g.103908248delC	ENSP00000278070:p.Ser1507fs					PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Frame_Shift_Del_p.S1243fs|PPRC1_ENST00000370012.1_Frame_Shift_Del_p.S474fs	p.S1507fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	10	4559	+		Colorectal(252;0.122)	1507			Arg-rich.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Frame_Shift_Del	DEL	ENST00000278070.2	37	c.4520delC	CCDS7529.1																																																																																				0.557	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		7	1805						7	1805	---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105799216	105799216	+	Frame_Shift_Del	DEL	G	G	-	rs2296219	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:105799216delG	ENST00000353479.5	-	43	3173	c.2883delC	c.(2881-2883)cccfs	p.P961fs	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	961	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGTCACCTTTGGGTCCCTGGG	0.597																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2881-2883)ccfs		collagen, type XVII, alpha 1							69.0	69.0	69.0					10																	105799216		2203	4300	6503	SO:0001589	frameshift_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105799216delG	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2883delC	10.37:g.105799216delG	ENSP00000340937:p.Pro961fs					COL17A1_ENST00000369733.3_Intron	p.P961fs	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	43	3173	-		Colorectal(252;0.103)|Breast(234;0.122)	961			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Frame_Shift_Del	DEL	ENST00000353479.5	37	c.2883delC	CCDS7554.1																																																																																				0.597	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		8	448						8	448	---	---	---	---
HMX2	3167	broad.mit.edu	37	10	124909413	124909414	+	Frame_Shift_Ins	INS	-	-	C	rs369511308		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr10:124909413_124909414insC	ENST00000339992.3	+	2	853_854	c.596_597insC	c.(595-600)aaccgcfs	p.R200fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	200					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		TGGTTCCAGAACCGCCGCAACA	0.649																																						ENST00000339992.3																			0				endometrium(1)|kidney(1)|lung(4)|prostate(1)	7						c.(595-597)acgfs		H6 family homeobox 2																																				SO:0001589	frameshift_variant	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124909413_124909414insC		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.598dupC	10.37:g.124909415_124909415dupC	ENSP00000341108:p.Arg200fs						p.T199fs	NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	2	853_854	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	199					B2RNV5	Frame_Shift_Ins	INS	ENST00000339992.3	37	c.596_597insC	CCDS31305.1																																																																																				0.649	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		7	210						7	210	---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48168446	48168446	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:48168446delT	ENST00000418331.2	+	15	3282	c.2930delT	c.(2929-2931)gttfs	p.V977fs		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	977					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGTGGAGCGGTTTTTGGCTGT	0.448																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(2929-2931)gtfs		protein tyrosine phosphatase, receptor type, J							323.0	284.0	297.0					11																	48168446		2201	4298	6499	SO:0001589	frameshift_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48168446delT	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2930delT	11.37:g.48168446delT	ENSP00000400010:p.Val977fs						p.V977fs	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			15	3282	+			977					Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Frame_Shift_Del	DEL	ENST00000418331.2	37	c.2930delT	CCDS7945.1																																																																																				0.448	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			7	1531						7	1531	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89385933	89385937	+	RNA	DEL	TATTT	TATTT	-	rs10524729|rs533813795	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:89385933_89385937delTATTT	ENST00000532352.1	+	0	402							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATATTGATTATATTTTATTAATGGT	0.293														1040	0.207668	0.1346	0.2277	5008	,	,		15695	0.0873		0.3668	False		,,,				2504	0.2526					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89385933_89385937delTATTT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89385933_89385937delTATTT										Q9HBA9	FOH1B_HUMAN			0	402	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.293	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		9	17						9	17	---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134181005	134181005	+	Frame_Shift_Del	DEL	C	C	-	rs370128549		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr11:134181005delC	ENST00000431683.2	+	13	1228	c.1228delC	c.(1228-1230)cccfs	p.P411fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	411					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GGCTGTGTATCCCCCCGTGAG	0.602																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1228-1230)ccfs		galactosidase, beta 1-like 3							209.0	215.0	213.0					11																	134181005		2033	4179	6212	SO:0001589	frameshift_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134181005delC		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1228delC	11.37:g.134181005delC	ENSP00000396615:p.Pro411fs						p.P411fs	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1228	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	411					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Frame_Shift_Del	DEL	ENST00000431683.2	37	c.1228delC	CCDS44780.1																																																																																				0.602	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		11	2601						11	2601	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711145	6711147	+	In_Frame_Del	DEL	TCC	TCC	-	rs71584865|rs1639122	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:6711145_6711147delTCC	ENST00000357008.2	-	4	580_582	c.417_419delGGA	c.(415-420)gaggat>gat	p.E139del	CHD4_ENST00000544040.1_In_Frame_Del_p.E132del|CHD4_ENST00000544484.1_In_Frame_Del_p.E136del|CHD4_ENST00000309577.6_In_Frame_Del_p.E139del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	139	Poly-Asp.		E -> D (in dbSNP:rs1639122). {ECO:0000269|PubMed:7575689}.		ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATCATCATCAtcctcctcctcct	0.453																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(415-420)gat>ga		chromodomain helicase DNA binding protein 4																																				SO:0001651	inframe_deletion	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711145_6711147delTCC	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.417_419delGGA	12.37:g.6711154_6711156delTCC	ENSP00000349508:p.Glu139del					CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del|CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del|CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del	p.ED139del			Q14839	CHD4_HUMAN			4	580_582	-			139		E -> D (in dbSNP:rs1639122).	Poly-Asp.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.417_419delGGA	CCDS8552.1																																																																																				0.453	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		9	437						9	437	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26640046	26640046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:26640046delT	ENST00000381340.3	-	40	5925	c.5509delA	c.(5509-5511)aggfs	p.R1837fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1837					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCATCGTCCCTTTTTTTGTTA	0.358																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(5509-5511)ggfs		inositol 1,4,5-trisphosphate receptor, type 2							206.0	188.0	193.0					12																	26640046		1860	4102	5962	SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26640046delT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5509delA	12.37:g.26640046delT	ENSP00000370744:p.Arg1837fs						p.R1837fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			40	5925	-	Colorectal(261;0.0847)		1837					O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.5509delA	CCDS41764.1																																																																																				0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		7	697						7	697	---	---	---	---
C12orf40	283461	broad.mit.edu	37	12	40076535	40076535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:40076535delG	ENST00000324616.5	+	8	963	c.809delG	c.(808-810)tggfs	p.W270fs	C12orf40_ENST00000405531.3_Frame_Shift_Del_p.W270fs|C12orf40_ENST00000398716.1_Frame_Shift_Del_p.W193fs	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	270										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAGCATATTTGGGGGAAAAAT	0.353																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(808-810)tgfs		chromosome 12 open reading frame 40							132.0	132.0	132.0					12																	40076535		1838	4083	5921	SO:0001589	frameshift_variant	283461							g.chr12:40076535delG	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.809delG	12.37:g.40076535delG	ENSP00000317671:p.Trp270fs					C12orf40_ENST00000405531.3_Frame_Shift_Del_p.W270fs|C12orf40_ENST00000398716.1_Frame_Shift_Del_p.W193fs	p.W270fs	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			8	963	+			270					B7WNU1|Q8IXY6|Q8N818|V9HW02	Frame_Shift_Del	DEL	ENST00000324616.5	37	c.809delG	CCDS41770.1																																																																																				0.353	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		8	802						8	802	---	---	---	---
SLC39A5	283375	broad.mit.edu	37	12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:56628997_56628999delCTG	ENST00000266980.4	+	5	984_986	c.691_693delCTG	c.(691-693)ctgdel	p.L234del	SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	234					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(691-693)del		solute carrier family 39 (zinc transporter), member 5																																				SO:0001651	inframe_deletion	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56628997_56628999delCTG		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.691_693delCTG	12.37:g.56629006_56629008delCTG	ENSP00000266980:p.Leu234del					SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del	p.L234del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			5	984_986	+			234					B2R808|Q8N6Y3	In_Frame_Del	DEL	ENST00000266980.4	37	c.691_693delCTG	CCDS8912.2																																																																																				0.635	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		7	1454						7	1454	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr12:59268350_59268351insG	ENST00000320743.3	-	17	2986_2987	c.2700_2701insC	c.(2698-2703)acctgcfs	p.C901fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.C841fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	901					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2698-2703)acgccafs		leucine-rich repeats and immunoglobulin-like domains 3																																				SO:0001589	frameshift_variant	121227					integral to membrane		g.chr12:59268350_59268351insG	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2701dupC	12.37:g.59268352_59268352dupG	ENSP00000326759:p.Cys901fs					LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.P841fs	p.P901fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		17	2986_2987	-			901					Q6UXL7|Q8NC72	Frame_Shift_Ins	INS	ENST00000320743.3	37	c.2700_2701insC	CCDS8960.1																																																																																				0.401	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		10	537						10	537	---	---	---	---
ESRRAP2	144832	broad.mit.edu	37	13	21835723	21835728	+	RNA	DEL	GGCGAG	GGCGAG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:21835723_21835728delGGCGAG	ENST00000427890.1	+	0	61									estrogen-related receptor alpha pseudogene 2																		GATGGACTGAGGCGAGGGGTGGGACT	0.646																																						ENST00000427890.1																			0																																																			0							g.chr13:21835723_21835728delGGCGAG	U85258		13q12.11	2011-03-15			ENSG00000235438	ENSG00000235438			24647	pseudogene	pseudogene						9344655, 3267207, 18065488	Standard	NG_007350		Approved	ESTRRA			OTTHUMG00000016534		13.37:g.21835723_21835728delGGCGAG														0	61	+									RNA	DEL	ENST00000427890.1	37																																																																																						0.646	ESRRAP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471193.1	NR_000033		14	46						14	46	---	---	---	---
WASF3	10810	broad.mit.edu	37	13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	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	8	485						8	485	---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33344888	33344888	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:33344888delA	ENST00000315596.10	+	33	4347	c.4161delA	c.(4159-4161)ccafs	p.P1387fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1387					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.N1390fs*4(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CATCACAACCAAAAAAAAATG	0.338																																						ENST00000315596.10																			1	Deletion - Frameshift(1)	p.N1390fs*4(1)	ovary(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(4159-4161)ccfs		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)				50,3556		4,42,1757	60.0	59.0	59.0			3.9	0.9	13		62	127,7729		0,127,3801	no	frameshift	PDS5B	NM_015032.3		4,169,5558	A1A1,A1R,RR		1.6166,1.3866,1.5442			33344888	177,11285	1876	4103	5979	SO:0001589	frameshift_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33344888delA	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.4161delA	13.37:g.33344888delA	ENSP00000313851:p.Pro1387fs						p.P1387fs	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	33	4347	+		Lung SC(185;0.0367)	1387					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Frame_Shift_Del	DEL	ENST00000315596.10	37	c.4161delA	CCDS41878.1																																																																																				0.338	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		7	148						7	148	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46549613	46549614	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr13:46549613_46549614delCT	ENST00000242848.4	-	12	2620_2621	c.2272_2273delAG	c.(2272-2274)aggfs	p.R758fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R758fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	758	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctctctctccctctctctctct	0.53																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2272-2274)gfs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46549613_46549614delCT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2272_2273delAG	13.37:g.46549623_46549624delCT	ENSP00000242848:p.Arg758fs					ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R758fs	p.R758fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	12	2620_2621	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	758			Arg/Glu-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.2272_2273delAG																																																																																					0.530	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	387						7	387	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086381	20086382	+	RNA	INS	-	-	T	rs202177940		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:20086381_20086382insT	ENST00000548261.1	+	0	135																											GTCTTACAAGGTAAAAAAAATG	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086381_20086382insT																													14.37:g.20086382_20086382dupT														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			7	82						7	82	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs374912343|rs371270332|rs2178778|rs587678559|rs201742006|rs367992314	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		ctctctctctctctctctTTTTTTTTT	0.415																																						ENST00000390441.2																			0																																																			0							g.chr14:22409533_22409539delCTCTCTC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409533_22409539delCTCTCTC														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.415	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		14	57						14	57	---	---	---	---
MMP14	4323	broad.mit.edu	37	14	23312996	23312996	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:23312996delA	ENST00000311852.6	+	6	1189	c.928delA	c.(928-930)aaafs	p.K310fs	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	310					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TGATAAACCCAAAAACCCCAC	0.577																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(928-930)aafs		matrix metallopeptidase 14 (membrane-inserted)							107.0	115.0	112.0					14																	23312996		2203	4300	6503	SO:0001589	frameshift_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23312996delA		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.928delA	14.37:g.23312996delA	ENSP00000308208:p.Lys310fs					MMP14_ENST00000548162.1_3'UTR	p.K310fs	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	6	1189	+	all_cancers(95;9.47e-05)		310					A8K5L0|Q6GSF3|Q92678	Frame_Shift_Del	DEL	ENST00000311852.6	37	c.928delA	CCDS9577.1																																																																																				0.577	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		7	1283						7	1283	---	---	---	---
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-	rs199740615		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)agcdel	p.S187del	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567																																						ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(541-543)del		interferon regulatory factor 9				167,4097		0,167,1965						-2.5	0.0			53	342,7912		0,342,3785	no	coding	IRF9	NM_006084.4		0,509,5750	A1A1,A1R,RR		4.1434,3.9165,4.0661				509,12009				SO:0001651	inframe_deletion	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633132_24633134delAGC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.541_543delAGC	14.37:g.24633141_24633143delAGC	ENSP00000380073:p.Ser187del					RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	p.S187del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	5	828_830	+			187			Poly-Ser.		D3DS61	In_Frame_Del	DEL	ENST00000396864.3	37	c.541_543delAGC	CCDS9615.1																																																																																				0.567	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			34	630						34	630	---	---	---	---
REC8	9985	broad.mit.edu	37	14	24642564	24642564	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:24642564delT	ENST00000311457.3	+	6	1005	c.406delT	c.(406-408)tttfs	p.F137fs	REC8_ENST00000559919.1_Frame_Shift_Del_p.F137fs			O95072	REC8_HUMAN	REC8 meiotic recombination protein	137					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TCCAGATCCCTTTTTTGGGAT	0.532																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(406-408)ttfs		REC8 meiotic recombination protein							194.0	199.0	197.0					14																	24642564		1969	4152	6121	SO:0001589	frameshift_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642564delT	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.406delT	14.37:g.24642564delT	ENSP00000308699:p.Phe137fs					REC8_ENST00000559919.1_Frame_Shift_Del_p.F137fs	p.F137fs			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	6	1005	+			137					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Frame_Shift_Del	DEL	ENST00000311457.3	37	c.406delT	CCDS41932.1																																																																																				0.532	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		7	1443						7	1443	---	---	---	---
NPAS3	64067	broad.mit.edu	37	14	34269751	34269751	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:34269751delG	ENST00000356141.4	+	12	2238	c.2238delG	c.(2236-2238)ccgfs	p.P746fs	NPAS3_ENST00000551492.1_Frame_Shift_Del_p.P751fs|NPAS3_ENST00000346562.2_Frame_Shift_Del_p.P714fs|NPAS3_ENST00000548645.1_Frame_Shift_Del_p.P716fs|NPAS3_ENST00000357798.5_Frame_Shift_Del_p.P733fs			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	746	Gly-rich.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCTCCGACCCGCTGTCACCCC	0.841																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(2140-2142)ccfs		neuronal PAS domain protein 3																																				SO:0001589	frameshift_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269751delG	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2238delG	14.37:g.34269751delG	ENSP00000348460:p.Pro746fs					NPAS3_ENST00000548645.1_Frame_Shift_Del_p.P716fs|NPAS3_ENST00000357798.5_Frame_Shift_Del_p.P733fs|NPAS3_ENST00000356141.4_Frame_Shift_Del_p.P746fs|NPAS3_ENST00000551492.1_Frame_Shift_Del_p.P751fs	p.P714fs	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	2216	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		746			Gly-rich.		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Frame_Shift_Del	DEL	ENST00000356141.4	37	c.2142delG	CCDS53891.1																																																																																				0.841	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			2	4						2	4	---	---	---	---
SRP54-AS1	100506157	broad.mit.edu	37	14	35390295	35390296	+	RNA	INS	-	-	TT	rs113610910|rs58748020|rs398077685|rs77795256	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:35390295_35390296insTT	ENST00000556355.1	-	0	524				RP11-85K15.2_ENST00000555015.1_RNA																							CACATATTGCAttttttttttt	0.436																																						ENST00000556355.1																			0																																																			0							g.chr14:35390295_35390296insTT																													14.37:g.35390304_35390305dupTT														0	524	-									RNA	INS	ENST00000556355.1	37																																																																																						0.436	RP11-85K15.2-004	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000410682.2			15	14						15	14	---	---	---	---
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-	rs369895963	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483														289	0.0577077	0.0681	0.0548	5008	,	,		16601	0.003		0.1352	False		,,,				2504	0.0225					ENST00000554725.1																			0																																																			0							g.chr14:57509058_57509064delTCCAAGC	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57509065_57509071delTCCAAGC														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.483	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		13	107						13	107	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		11	951						11	951	---	---	---	---
BEGAIN	57596	broad.mit.edu	37	14	101005271	101005273	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:101005271_101005273delCCT	ENST00000355173.2	-	7	886_888	c.815_817delAGG	c.(814-819)gaggcc>gcc	p.E272del	BEGAIN_ENST00000443071.2_In_Frame_Del_p.E272del|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_In_Frame_Del_p.E208del	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	272						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(622-627)gcc>g		brain-enriched guanylate kinase-associated																																				SO:0001651	inframe_deletion	57596					cytoplasm|membrane	protein binding	g.chr14:101005271_101005273delCCT	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.815_817delAGG	14.37:g.101005280_101005282delCCT	ENSP00000347301:p.Glu272del					BEGAIN_ENST00000355173.2_In_Frame_Del_p.EA274del|BEGAIN_ENST00000443071.2_In_Frame_Del_p.EA274del	p.EA210del			Q9BUH8	BEGIN_HUMAN			5	4027_4029	-		Melanoma(154;0.212)	274					Q9NPU3|Q9P282	In_Frame_Del	DEL	ENST00000355173.2	37	c.623_625delAGG	CCDS9962.1																																																																																				0.724	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		8	182						8	182	---	---	---	---
IGHV4-39	28394	broad.mit.edu	37	14	106877821	106877826	+	RNA	DEL	CTACTG	CTACTG	-	rs371574132|rs587704823|rs377249313|rs587658822|rs587600484|rs374128985|rs587603411	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr14:106877821_106877826delCTACTG	ENST00000390619.2	-	0	217_222									immunoglobulin heavy variable 4-39																		GTAGTAACTACTACTGCTGATGGAGC	0.607																																						ENST00000390619.2																			0																	59,3537		4,51,1743						-0.2	0.0		dbSNP_134	57	122,7696		12,98,3799	no	intergenic				16,149,5542	A1A1,A1R,RR		1.5605,1.6407,1.5858				181,11233						0							g.chr14:106877821_106877826delCTACTG	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877821_106877826delCTACTG														0	217_222	-									RNA	DEL	ENST00000390619.2	37																																																																																						0.607	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		9	649						9	649	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709885	22709885	+	RNA	DEL	G	G	-	rs372484877		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:22709885delG	ENST00000314246.8	-	0	1069				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											TATCTAATGTGGGGGGGGCTG	0.537																																						ENST00000314246.8																			0																																																			0							g.chr15:22709885delG			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709885delG														0	1069	-									RNA	DEL	ENST00000314246.8	37																																																																																						0.537	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		16	85						16	85	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310193	+	RNA	INS	-	-	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:25310192_25310193insA	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNORD116-5_ENST00000384462.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		ATGAGTCCTCCAAAAAAAACAT	0.475																																						ENST00000549804.2																			0																																																			0							g.chr15:25310192_25310193insA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310200_25310200dupA						SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA								0	538	+									RNA	INS	ENST00000549804.2	37																																																																																						0.475	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			11	962						11	962	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25432666	25432666	+	RNA	DEL	G	G	-	rs368646014		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:25432666delG	ENST00000424208.1	+	0	761				SNORD115-9_ENST00000362912.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-10_ENST00000365073.1_RNA|SNORD115-11_ENST00000363616.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTGTGTGGTGGGGGGTGCCC	0.552																																						ENST00000424208.1																			0																				277.0	278.0	278.0					15																	25432666		876	1991	2867			0							g.chr15:25432666delG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25432666delG								NR_003305.1						0	761	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.552	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			7	1987						7	1987	---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-	rs369163190		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		13	705						13	705	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63076122	63076123	+	Intron	DEL	CA	CA	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr15:63076122_63076123delCA	ENST00000561311.1	+	44	5966				AC103740.1_ENST00000577415.1_RNA|TLN2_ENST00000306829.6_Intron|TLN2_ENST00000472902.1_Frame_Shift_Del_p.T317fs			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTTTAAGATGCACACACACACT	0.554																																						ENST00000472902.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(946-951)tgcafs		talin 2																																				SO:0001627	intron_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63076122_63076123delCA	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5736+33CA>-	15.37:g.63076130_63076131delCA						TLN2_ENST00000561311.1_Intron|TLN2_ENST00000306829.6_Intron	p.CT316fs			Q9Y4G6	TLN2_HUMAN			9	1201_1202	+			0			FERM.|Interaction with PIP5K1C (By similarity).		A6NLB8	Frame_Shift_Del	DEL	ENST00000561311.1	37	c.948_949delCA	CCDS32261.1																																																																																				0.554	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			8	446						8	446	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-	rs368747234		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994531_29994533delGAG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		13	448						13	448	---	---	---	---
FUS	2521	broad.mit.edu	37	16	31201632	31201634	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:31201632_31201634delGTG	ENST00000254108.7	+	12	1310_1312	c.1205_1207delGTG	c.(1204-1209)agtggt>agt	p.G406del	FUS_ENST00000380244.3_In_Frame_Del_p.G405del|FUS_ENST00000568685.1_In_Frame_Del_p.G407del|FUS_ENST00000474990.1_3'UTR	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	406	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ggtggtggcagtggtggtggtgg	0.557			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7				Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""		"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(1204-1209)agt>a		fused in sarcoma																																				SO:0001651	inframe_deletion	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31201632_31201634delGTG	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1205_1207delGTG	16.37:g.31201641_31201643delGTG	ENSP00000254108:p.Gly406del					FUS_ENST00000380244.3_In_Frame_Del_p.SG401del|FUS_ENST00000568685.1_In_Frame_Del_p.SG403del|FUS_ENST00000474990.1_3'UTR	p.SG402del	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	12	1310_1312	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	402			Arg/Gly-rich.		Q9H4A8	In_Frame_Del	DEL	ENST00000254108.7	37	c.1205_1207delGTG	CCDS10707.1																																																																																				0.557	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		7	555						7	555	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(784-786)del		iroquois homeobox 6																																				SO:0001651	inframe_deletion	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362674_55362676delGAG	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.784_786delGAG	16.37:g.55362683_55362685delGAG	ENSP00000290552:p.Glu268del					RP11-26L20.3_ENST00000558730.2_RNA	p.E268del	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2116_2118	+			268					B2RN06|Q7Z2K0	In_Frame_Del	DEL	ENST00000290552.7	37	c.784_786delGAG	CCDS32449.1																																																																																				0.626	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		16	498						16	498	---	---	---	---
CNGB1	1258	broad.mit.edu	37	16	57983275	57983277	+	In_Frame_Del	DEL	TCC	TCC	-	rs141566950|rs528199212		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:57983275_57983277delTCC	ENST00000251102.8	-	14	1161_1163	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	CNGB1_ENST00000564654.1_5'Flank|CNGB1_ENST00000564448.1_In_Frame_Del_p.361_362EE>E	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	367	Poly-Glu.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctcctcttcctcctcctcct	0.586																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(1081-1086)gaa>ga		cyclic nucleotide gated channel beta 1				50,422,3678		24,0,2,33,356,1660						-4.3	0.1		dbSNP_134	89	253,4,7879		123,0,7,0,4,3934	no	codingComplex	CNGB1	NM_001297.4		147,0,9,33,360,5594	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1588,11.3735,5.9336				303,426,11557				SO:0001651	inframe_deletion	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57983275_57983277delTCC	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1101_1103delGGA	16.37:g.57983284_57983286delTCC	ENSP00000251102:p.Glu371del					CNGB1_ENST00000251102.8_In_Frame_Del_p.EE369del	p.EE363del			Q14028	CNGB1_HUMAN			14	1143_1145	-			369			Poly-Glu.		H3BN09|O43636|Q13059|Q14029|Q9UMG2	In_Frame_Del	DEL	ENST00000251102.8	37	c.1083_1085delGGA	CCDS42169.1																																																																																				0.586	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		7	430						7	430	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180989	67180989	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr16:67180989delC	ENST00000219139.3	+	16	1412	c.1224delC	c.(1222-1224)ggcfs	p.G408fs	C16orf70_ENST00000569600.1_Frame_Shift_Del_p.G408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CCCTGTATGGCCCCCCCAGGC	0.597																																						ENST00000219139.3																			1	Insertion - Frameshift(1)	p.R411fs*4(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(1222-1224)ggfs		chromosome 16 open reading frame 70				2,4262		0,2,2130	181.0	156.0	164.0			6.2	1.0	16		165	0,8254		0,0,4127	no	frameshift	C16orf70	NM_025187.3		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016			67180989	2,12516	2198	4300	6498	SO:0001589	frameshift_variant	80262							g.chr16:67180989delC	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1224delC	16.37:g.67180989delC	ENSP00000219139:p.Gly408fs					C16orf70_ENST00000569600.1_Frame_Shift_Del_p.G408fs	p.G408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	16	1412	+		Ovarian(137;0.192)	408					Q9HA86	Frame_Shift_Del	DEL	ENST00000219139.3	37	c.1224delC	CCDS10828.1																																																																																				0.597	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		8	976						8	976	---	---	---	---
NDEL1	81565	broad.mit.edu	37	17	8370271	8370273	+	In_Frame_Del	DEL	CTC	CTC	-	rs557733194	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:8370271_8370273delCTC	ENST00000334527.7	+	9	1165_1167	c.968_970delCTC	c.(967-972)gctcct>gct	p.P327del	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000402554.3_3'UTR|NDEL1_ENST00000380025.4_3'UTR	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	327	Interaction with CENPF.|Interaction with NEFL. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						TTTGACCCCGCTCCTCCTCCTCC	0.576																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(967-972)gct>g		nudE neurodevelopment protein 1-like 1																																				SO:0001651	inframe_deletion	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8370271_8370273delCTC	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.968_970delCTC	17.37:g.8370280_8370282delCTC	ENSP00000333982:p.Pro327del					NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000402554.3_3'UTR	p.AP323del	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			9	1165_1167	+			323			Interaction with CENPF.|Interaction with NEFL (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	In_Frame_Del	DEL	ENST00000334527.7	37	c.968_970delCTC	CCDS11143.1																																																																																				0.576	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		7	732						7	732	---	---	---	---
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	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	816						7	816	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			12	221						12	221	---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		12	620						12	620	---	---	---	---
FAM20A	54757	broad.mit.edu	37	17	66539865	66539868	+	Intron	DEL	GGAA	GGAA	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:66539865_66539868delGGAA	ENST00000592554.1	-	5	1442				AC079210.1_ENST00000600820.1_Frame_Shift_Del_p.GR42fs|FAM20A_ENST00000226094.5_Intron|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A						calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GCTGCTGTCTGGAAGGAAGGAAGG	0.51																																						ENST00000600820.1																			0											c.(124-129)ggfs																																						SO:0001627	intron_variant	0							g.chr17:66539865_66539868delGGAA	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.720-3TTCC>-	17.37:g.66539873_66539876delGGAA						FAM20A_ENST00000226094.5_Intron|PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000592554.1_Intron	p.GR42fs							1	497_500	+								B2RN47|B2RN49|Q9UF95	Frame_Shift_Del	DEL	ENST00000592554.1	37	c.124_127delGGAA	CCDS11679.1																																																																																				0.510	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		8	556						8	556	---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_ENST00000411502.3_In_Frame_Del_p.L213del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.L213del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.L213del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(625-630)atg>a		solute carrier family 26 (anion exchanger), member 11																																				SO:0001651	inframe_deletion	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78201649_78201651delTGC		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.626_628delTGC	17.37:g.78201658_78201660delTGC	ENSP00000355384:p.Leu213del					SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del	p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	906_908	+	all_neural(118;0.0538)		209						In_Frame_Del	DEL	ENST00000361193.3	37	c.626_628delTGC	CCDS11771.2																																																																																				0.675	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			9	744						9	744	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21750331	21750331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr18:21750331delT	ENST00000319481.3	-	24	2584	c.2378delA	c.(2377-2379)aatfs	p.N793fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.N411fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.N280fs|RNA5SP452_ENST00000363004.1_RNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	793					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTCTTATCATTTTTTTTGTA	0.393																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2377-2379)atfs		oxysterol binding protein-like 1A							259.0	233.0	242.0					18																	21750331		2203	4300	6503	SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21750331delT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2378delA	18.37:g.21750331delT	ENSP00000320291:p.Asn793fs					OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.N411fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.N280fs	p.N793fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			24	2584	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		793					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Del	DEL	ENST00000319481.3	37	c.2378delA	CCDS11884.1																																																																																				0.393	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		7	547						7	547	---	---	---	---
ARRDC5	645432	broad.mit.edu	37	19	4891312	4891313	+	Frame_Shift_Ins	INS	-	-	G	rs192736838	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:4891312_4891313insG	ENST00000381781.2	-	3	773_774	c.774_775insC	c.(772-777)cccgtgfs	p.V259fs	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	259										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AAGCGGGTCACGGGGGTGTTGG	0.624																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(772-777)cctgacfs		arrestin domain containing 5																																				SO:0001589	frameshift_variant	645432				signal transduction			g.chr19:4891312_4891313insG		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.775dupC	19.37:g.4891317_4891317dupG	ENSP00000371200:p.Val259fs						p.D259fs	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	773_774	-			259						Frame_Shift_Ins	INS	ENST00000381781.2	37	c.774_775insC	CCDS45929.1																																																																																				0.624	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		7	343						7	343	---	---	---	---
RGL3	57139	broad.mit.edu	37	19	11526663	11526663	+	Frame_Shift_Del	DEL	A	A	-	rs151155820	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:11526663delA	ENST00000380456.3	-	5	650	c.587delT	c.(586-588)ttgfs	p.L196fs	RGL3_ENST00000393423.3_Frame_Shift_Del_p.L196fs	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	196	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGCCTCCTCCAAAAAATCTTC	0.582																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(586-588)tgfs		ral guanine nucleotide dissociation stimulator-like 3							130.0	145.0	140.0					19																	11526663		2203	4300	6503	SO:0001589	frameshift_variant	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11526663delA	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.587delT	19.37:g.11526663delA	ENSP00000369823:p.Leu196fs					RGL3_ENST00000393423.3_Frame_Shift_Del_p.L196fs	p.L196fs	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			5	650	-			196			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Frame_Shift_Del	DEL	ENST00000380456.3	37	c.587delT	CCDS32910.1																																																																																				0.582	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		8	2015						8	2015	---	---	---	---
CYP4F3	4051	broad.mit.edu	37	19	15769322	15769322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:15769322delT	ENST00000221307.8	+	11	1318	c.1271delT	c.(1270-1272)gttfs	p.V424fs	CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000586182.2_Frame_Shift_Del_p.V424fs	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	424					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTCATCAGTGTTTTTGGAACC	0.622																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(1270-1272)gtfs		cytochrome P450, family 4, subfamily F, polypeptide 3							139.0	148.0	145.0					19																	15769322		2203	4300	6503	SO:0001589	frameshift_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15769322delT	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1271delT	19.37:g.15769322delT	ENSP00000221307:p.Val424fs					CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000586182.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.V424fs	p.V424fs	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			11	1319	+			424					B7Z8Z3|O60634|Q5U740	Frame_Shift_Del	DEL	ENST00000221307.8	37	c.1271delT	CCDS12332.1																																																																																				0.622	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		8	1938						8	1938	---	---	---	---
CTC-439O9.3	0	broad.mit.edu	37	19	31670636	31670638	+	lincRNA	DEL	GGT	GGT	-	rs139984397|rs61269486	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:31670636_31670638delGGT	ENST00000589511.1	+	0	223																											gatgatggtaggtggtggtggtg	0.502														2320	0.463259	0.5212	0.3732	5008	,	,		24521	0.3244		0.4891	False		,,,				2504	0.5654					ENST00000589511.1																			0																																																			0							g.chr19:31670636_31670638delGGT																													19.37:g.31670645_31670647delGGT														0	223	+									RNA	DEL	ENST00000589511.1	37																																																																																						0.502	CTC-439O9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000460489.1			5	7						5	7	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)del		free fatty acid receptor 2																																				SO:0001651	inframe_deletion	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940788_35940790delCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.172_174delCTG	19.37:g.35940797_35940799delCTG	ENSP00000473159:p.Leu62del					FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron	p.L62del			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		62					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	In_Frame_Del	DEL	ENST00000599180.2	37	c.172_174delCTG	CCDS12461.1																																																																																				0.645	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		20	314						20	314	---	---	---	---
ATP5SL	55101	broad.mit.edu	37	19	41942324	41942324	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:41942324delA	ENST00000221943.9	-	3	274	c.269delT	c.(268-270)ttcfs	p.F90fs	ATP5SL_ENST00000589970.1_Frame_Shift_Del_p.F90fs|ATP5SL_ENST00000590641.2_Intron|ATP5SL_ENST00000301183.11_Frame_Shift_Del_p.F96fs|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000417807.3_Frame_Shift_Del_p.F96fs|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000592922.2_Intron|ATP5SL_ENST00000595425.1_Intron	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	90						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						CTTCAGGATGAAAAAGGCACC	0.552																																						ENST00000221943.9																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						c.(268-270)tcfs		ATP5S-like							154.0	128.0	137.0					19																	41942324		2203	4300	6503	SO:0001589	frameshift_variant	55101							g.chr19:41942324delA	AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.269delT	19.37:g.41942324delA	ENSP00000221943:p.Phe90fs					ATP5SL_ENST00000592922.2_Intron|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000595425.1_Intron|ATP5SL_ENST00000301183.11_Frame_Shift_Del_p.F96fs|ATP5SL_ENST00000589970.1_Frame_Shift_Del_p.F90fs|ATP5SL_ENST00000590641.2_Intron|ATP5SL_ENST00000417807.3_Frame_Shift_Del_p.F96fs|ATP5SL_ENST00000438807.3_Intron	p.F90fs	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN			3	274	-			90					B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Frame_Shift_Del	DEL	ENST00000221943.9	37	c.269delT	CCDS33032.1																																																																																				0.552	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	NM_018035		10	1158						10	1158	---	---	---	---
ZNF576	79177	broad.mit.edu	37	19	44102990	44102990	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:44102990delG	ENST00000336564.4	+	3	247	c.93delG	c.(91-93)ctgfs	p.L31fs	ZNF576_ENST00000528387.1_Frame_Shift_Del_p.L31fs|ZNF576_ENST00000525771.1_Frame_Shift_Del_p.L31fs|ZNF576_ENST00000391965.2_Frame_Shift_Del_p.L31fs|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000533118.1_Frame_Shift_Del_p.L31fs|IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000529930.1_Frame_Shift_Del_p.L31fs|SRRM5_ENST00000607544.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	31					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				CAGGCCACCTGGGGGCCCCGA	0.592																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(91-93)ctfs		zinc finger protein 576							46.0	56.0	53.0					19																	44102990		2203	4300	6503	SO:0001589	frameshift_variant	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44102990delG	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.93delG	19.37:g.44102990delG	ENSP00000337852:p.Leu31fs					ZNF576_ENST00000525771.1_Frame_Shift_Del_p.L31fs|ZNF576_ENST00000528387.1_Frame_Shift_Del_p.L31fs|SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Frame_Shift_Del_p.L31fs|ZNF576_ENST00000391965.2_Frame_Shift_Del_p.L31fs|ZNF576_ENST00000529930.1_Frame_Shift_Del_p.L31fs	p.L31fs	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	247	+		Prostate(69;0.0199)	31					Q9BU03	Frame_Shift_Del	DEL	ENST00000336564.4	37	c.93delG	CCDS12625.1																																																																																				0.592	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		7	880						7	880	---	---	---	---
PLAUR	5329	broad.mit.edu	37	19	44174235	44174237	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:44174235_44174237delAGC	ENST00000340093.3	-	1	265_267	c.36_38delGCT	c.(34-39)ctgctc>ctc	p.12_13LL>L	PLAUR_ENST00000339082.3_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000601723.1_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000221264.4_In_Frame_Del_p.12_13LL>L	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	12					attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.66																																						ENST00000221264.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20						c.(34-39)ctc>ct		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)																																			SO:0001651	inframe_deletion	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44174235_44174237delAGC		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.36_38delGCT	19.37:g.44174244_44174246delAGC	ENSP00000339328:p.Leu13del					PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del|PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del	p.LL12del	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN			1	462_464	-		Prostate(69;0.0153)	12					A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	In_Frame_Del	DEL	ENST00000340093.3	37	c.36_38delGCT	CCDS12628.1																																																																																				0.660	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		9	889						9	889	---	---	---	---
TMEM143	55260	broad.mit.edu	37	19	48866688	48866688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:48866688delG	ENST00000293261.3	-	2	440	c.124delC	c.(124-126)cggfs	p.R42fs	SYNGR4_ENST00000344846.2_5'Flank|TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000436660.2_Frame_Shift_Del_p.R42fs|TMEM143_ENST00000377431.2_Frame_Shift_Del_p.R42fs|TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000435956.3_Frame_Shift_Del_p.R42fs	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	42					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GAGAGGGCCCGGGGGGGCCCG	0.682																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(124-126)ggfs		transmembrane protein 143							24.0	31.0	29.0					19																	48866688		2202	4296	6498	SO:0001589	frameshift_variant	55260					integral to membrane|mitochondrion		g.chr19:48866688delG	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.124delC	19.37:g.48866688delG	ENSP00000293261:p.Arg42fs					TMEM143_ENST00000436660.2_Frame_Shift_Del_p.R42fs|TMEM143_ENST00000435956.3_Frame_Shift_Del_p.R42fs|TMEM143_ENST00000377431.2_Frame_Shift_Del_p.R42fs|TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000541566.1_Intron	p.R42fs	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	2	440	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	42					A8K656|Q6UXY4|Q9NV49	Frame_Shift_Del	DEL	ENST00000293261.3	37	c.124delC	CCDS12716.1																																																																																				0.682	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		10	541						10	541	---	---	---	---
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-	rs372504451		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621																																						ENST00000594009.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(46-48)del		fms-related tyrosine kinase 3 ligand																																				SO:0001651	inframe_deletion	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49978960_49978962delCTG	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.46_48delCTG	19.37:g.49978969_49978971delCTG	ENSP00000469613:p.Leu20del					FLT3LG_ENST00000595815.1_3'UTR|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del	p.L20del	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	2	125_127	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	20					A0AVC2|B9EGH2|Q05C96	In_Frame_Del	DEL	ENST00000594009.1	37	c.46_48delCTG	CCDS12767.1																																																																																				0.621	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			7	541						7	541	---	---	---	---
ZNF528-AS1	102724105	broad.mit.edu	37	19	52896073	52896074	+	RNA	DEL	TA	TA	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:52896073_52896074delTA	ENST00000601562.1	-	0	784																											GTGGAAGCTGTATATATATATA	0.46																																						ENST00000601562.1																			0																																																			0							g.chr19:52896073_52896074delTA																													19.37:g.52896083_52896084delTA														0	784	-									RNA	DEL	ENST00000601562.1	37																																																																																						0.460	CTD-3018O17.3-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000462867.1			8	118						8	118	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55435113	55435113	+	Frame_Shift_Del	DEL	A	A	-	rs373484034		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:55435113delA	ENST00000590030.1	-	9	2978	c.2938delT	c.(2938-2940)tgcfs	p.C980fs	NLRP7_ENST00000592784.1_Frame_Shift_Del_p.C1037fs|NLRP7_ENST00000588756.1_Frame_Shift_Del_p.C1037fs|NLRP7_ENST00000448121.2_Frame_Shift_Del_p.C1009fs|NLRP7_ENST00000340844.2_Frame_Shift_Del_p.C980fs|NLRP7_ENST00000446217.1_Frame_Shift_Del_p.C1065fs|NLRP7_ENST00000328092.5_Frame_Shift_Del_p.C1009fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	980							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCTGCTCAGCAAAAAAAGTCA	0.478																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(3109-3111)gcfs		NLR family, pyrin domain containing 7							107.0	107.0	107.0					19																	55435113		2203	4300	6503	SO:0001589	frameshift_variant	199713						ATP binding	g.chr19:55435113delA	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2938delT	19.37:g.55435113delA	ENSP00000465520:p.Cys980fs					NLRP7_ENST00000340844.2_Frame_Shift_Del_p.C980fs|NLRP7_ENST00000328092.5_Frame_Shift_Del_p.C1009fs|NLRP7_ENST00000448121.2_Frame_Shift_Del_p.C1009fs|NLRP7_ENST00000446217.1_Frame_Shift_Del_p.C1065fs|NLRP7_ENST00000590030.1_Frame_Shift_Del_p.C980fs|NLRP7_ENST00000592784.1_Frame_Shift_Del_p.C1037fs	p.C1037fs			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	13	3595	-			0					E9PE16|Q32MH8|Q7RTR1	Frame_Shift_Del	DEL	ENST00000590030.1	37	c.3109delT	CCDS33109.1																																																																																				0.478	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		7	768						7	768	---	---	---	---
PPP1R12C	54776	broad.mit.edu	37	19	55607462	55607462	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr19:55607462delC	ENST00000263433.3	-	8	1125	c.1110delG	c.(1108-1110)gggfs	p.G370fs	PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.G370fs|PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.G296fs	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGATGGGGGGCCCCCCAGCCC	0.647																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(1108-1110)ggfs		protein phosphatase 1, regulatory subunit 12C							46.0	58.0	54.0					19																	55607462		2203	4300	6503	SO:0001589	frameshift_variant	54776					cytoplasm		g.chr19:55607462delC	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1110delG	19.37:g.55607462delC	ENSP00000263433:p.Gly370fs					PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.G296fs|PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.G370fs	p.G370fs	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	8	1125	-			370						Frame_Shift_Del	DEL	ENST00000263433.3	37	c.1110delG	CCDS12916.1																																																																																				0.647	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		8	791						8	791	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				27	156						27	156	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825852	9825853	+	RNA	INS	-	-	A			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:9825852_9825853insA	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						gcggcggtggtggggggagccg	0.837																																						ENST00000581792.1																			0																																																			0							g.chr21:9825852_9825853insA																													21.37:g.9825852_9825853insA								NR_037421.1						0	21_22	+									RNA	INS	ENST00000577708.1	37																																																																																						0.837	MIR3687-201	KNOWN	basic	miRNA	miRNA				8	154						8	154	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085780	11085781	+	RNA	INS	-	-	C	rs373794997		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:11085780_11085781insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccacatcacaatca	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085780_11085781insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085781_11085781dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	7						5	7	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11097726	11097726	+	RNA	DEL	G	G	-	rs371150550		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:11097726delG	ENST00000470054.1	-	0	223							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCCAGTTTCAGCGAAGGCACT	0.587																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11097726delG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097726delG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	223	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.587	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	182						9	182	---	---	---	---
APP	351	broad.mit.edu	37	21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		8	218						8	218	---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38538054	38538054	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr21:38538054delA	ENST00000399017.2	+	33	6285	c.3538delA	c.(3538-3540)aaafs	p.K1181fs	TTC3_ENST00000354749.2_Frame_Shift_Del_p.K1181fs|TTC3_ENST00000355666.1_Frame_Shift_Del_p.K1181fs|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1181	Arg/Lys-rich (basic).				negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ACGGCTCAAGAAAAAAAGGAA	0.383																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(3538-3540)aafs		tetratricopeptide repeat domain 3							119.0	131.0	127.0					21																	38538054		2198	4299	6497	SO:0001589	frameshift_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38538054delA	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3538delA	21.37:g.38538054delA	ENSP00000381981:p.Lys1181fs					TTC3_ENST00000355666.1_Frame_Shift_Del_p.K1181fs|TTC3_ENST00000354749.2_Frame_Shift_Del_p.K1181fs|TTC3_ENST00000479930.1_3'UTR	p.K1181fs	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			33	6285	+		Myeloproliferative disorder(46;0.0412)	1181			Arg/Lys-rich (basic).		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Frame_Shift_Del	DEL	ENST00000399017.2	37	c.3538delA	CCDS13651.1																																																																																				0.383	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			7	1247						7	1247	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22661172	22661173	+	RNA	INS	-	-	C	rs377142963|rs7410785|rs60559515	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr22:22661172_22661173insC	ENST00000426066.1	+	0	264_265					NR_027293.1				BMS1 pseudogene 20																		CATACAGGTTTTCCCCCCCCAC	0.411																																						ENST00000426066.1																			0																																																			0							g.chr22:22661172_22661173insC			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661172_22661173insC								NR_027293.1						0	264_265	+									RNA	INS	ENST00000426066.1	37																																																																																						0.411	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			8	249						8	249	---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24567686	24567686	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr22:24567686delG	ENST00000398319.2	+	34	6148	c.5763delG	c.(5761-5763)tcgfs	p.S1921fs	CABIN1_ENST00000337989.7_Frame_Shift_Del_p.S346fs|CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000263119.5_Frame_Shift_Del_p.S1921fs|CABIN1_ENST00000405822.2_Frame_Shift_Del_p.S1842fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1921					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CACAGGCCTCGGGGGACACCC	0.627																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5761-5763)tcfs		calcineurin binding protein 1							101.0	115.0	110.0					22																	24567686		2203	4300	6503	SO:0001589	frameshift_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24567686delG	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5763delG	22.37:g.24567686delG	ENSP00000381364:p.Ser1921fs					CABIN1_ENST00000337989.7_Frame_Shift_Del_p.S346fs|CABIN1_ENST00000405822.2_Frame_Shift_Del_p.S1842fs|CABIN1_ENST00000263119.5_Frame_Shift_Del_p.S1921fs|CABIN1_ENST00000485008.1_3'UTR	p.S1921fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			34	6148	+			1921					G5E9F3|Q6PHY0|Q9Y460	Frame_Shift_Del	DEL	ENST00000398319.2	37	c.5763delG	CCDS13823.1																																																																																				0.627	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		7	1366						7	1366	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr22:38119882_38119884delCCT	ENST00000406386.3	+	7	1574_1576	c.1319_1321delCCT	c.(1318-1323)gcctcc>gcc	p.S442del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	442					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1318-1323)gcc>g		TRIO and F-actin binding protein				8,3622		3,2,1810						-5.6	0.0			78	10,7846		3,4,3921	no	coding	TRIOBP	NM_001039141.2		6,6,5731	A1A1,A1R,RR		0.1273,0.2204,0.1567				18,11468				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119882_38119884delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1319_1321delCCT	22.37:g.38119885_38119887delCCT	ENSP00000384312:p.Ser442del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS440del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1574_1576	+	Melanoma(58;0.0574)		440					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1319_1321delCCT	CCDS43015.1																																																																																				0.601	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			15	911						15	911	---	---	---	---
SMDT1	91689	broad.mit.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	GAT	-	rs141840500		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	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		7	659						7	659	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610948	42610948	+	Frame_Shift_Del	DEL	G	G	-	rs138734341		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chr22:42610948delG	ENST00000359486.3	-	1	500	c.364delC	c.(364-366)cagfs	p.Q122fs	TCF20_ENST00000335626.4_Frame_Shift_Del_p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTCCCCTGGGGGGGTCCA	0.567																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(364-366)agfs		transcription factor 20 (AR1)							92.0	97.0	95.0					22																	42610948		2203	4300	6503	SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610948delG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.364delC	22.37:g.42610948delG	ENSP00000352463:p.Gln122fs					TCF20_ENST00000335626.4_Frame_Shift_Del_p.Q122fs	p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	500	-			122	Q -> R (in Ref. 1).				A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Del	DEL	ENST00000359486.3	37	c.364delC	CCDS14033.1																																																																																				0.567	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	1209						8	1209	---	---	---	---
ZFX	7543	broad.mit.edu	37	X	24229134	24229134	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:24229134delA	ENST00000379177.1	+	11	2486	c.2059delA	c.(2059-2061)aaafs	p.K688fs	ZFX_ENST00000379188.3_Frame_Shift_Del_p.K688fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.K459fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.K688fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.K727fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.K638fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	688					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CCACAAGGGCAAAAAAATGCA	0.428																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(2059-2061)aafs		zinc finger protein, X-linked							121.0	110.0	114.0					X																	24229134		2203	4300	6503	SO:0001589	frameshift_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229134delA		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2059delA	X.37:g.24229134delA	ENSP00000368475:p.Lys688fs					ZFX_ENST00000379188.3_Frame_Shift_Del_p.K688fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.K727fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.K638fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.K688fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.K459fs	p.K688fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2486	+			688					B9EG97|O43668|Q8WYJ8	Frame_Shift_Del	DEL	ENST00000379177.1	37	c.2059delA	CCDS14211.1																																																																																				0.428	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		7	780						7	780	---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48841735	48841737	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:48841735_48841737delCTG	ENST00000376441.1	-	14	1154_1156	c.1120_1122delCAG	c.(1120-1122)cagdel	p.Q374del	GRIPAP1_ENST00000376423.4_In_Frame_Del_p.Q321del|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_In_Frame_Del_p.Q343del|GRIPAP1_ENST00000376444.3_In_Frame_Del_p.Q329del	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	374						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CGTACTCAGCCTGCTGCTGCTGC	0.517																																						ENST00000376423.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(961-963)del		GRIP1 associated protein 1																																				SO:0001651	inframe_deletion	56850					early endosome		g.chrX:48841735_48841737delCTG	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1120_1122delCAG	X.37:g.48841744_48841746delCTG	ENSP00000365624:p.Gln374del					GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_In_Frame_Del_p.Q343del|GRIPAP1_ENST00000376444.3_In_Frame_Del_p.Q329del|GRIPAP1_ENST00000376441.1_In_Frame_Del_p.Q374del	p.Q321del	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN			13	993_995	-			374					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	In_Frame_Del	DEL	ENST00000376441.1	37	c.961_963delCAG	CCDS35248.1																																																																																				0.517	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		7	336						7	336	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	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		20	72						20	72	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		12	408						12	408	---	---	---	---
RNF128	79589	broad.mit.edu	37	X	105937255	105937256	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:105937255_105937256insT	ENST00000324342.3	+	1	188_189	c.23_24insT	c.(22-27)agttttfs	p.SF8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AATAGGTCCAGTTTTTTTTGGC	0.347																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(22-24)attfs		ring finger protein 128, E3 ubiquitin protein ligase				5,3716		0,5,0,1587,537						3.2	0.0			72	9,6473		0,3,6,2354,1762	no	frameshift	RNF128	NM_024539.3		0,8,6,3941,2299	A1A1,A1R,A1,RR,R		0.1388,0.1344,0.1372				14,10189				SO:0001589	frameshift_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937255_105937256insT	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.31dupT	X.37:g.105937263_105937263dupT	ENSP00000316127:p.Ser8fs						p.I8fs	NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN			1	188_189	+			0					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Ins	INS	ENST00000324342.3	37	c.23_24insT	CCDS14520.1																																																																																				0.347	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		8	474						8	474	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	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		12	581						12	581	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		24	1742						24	1742	---	---	---	---
GABRE	2564	broad.mit.edu	37	X	151138810	151138810	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:151138810delG	ENST00000370328.3	-	2	174	c.121delC	c.(121-123)cagfs	p.Q41fs	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Frame_Shift_Del_p.Q41fs	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	41					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCTGGGGCTGGGGGCCATAG	0.512																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(121-123)agfs		gamma-aminobutyric acid (GABA) A receptor, epsilon							121.0	117.0	118.0					X																	151138810		2203	4300	6503	SO:0001589	frameshift_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151138810delG	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.121delC	X.37:g.151138810delG	ENSP00000359353:p.Gln41fs					GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Frame_Shift_Del_p.Q41fs	p.Q41fs			P78334	GBRE_HUMAN			2	174	-	Acute lymphoblastic leukemia(192;6.56e-05)		41					E7ET93|O15345|O15346|Q6PCD2|Q99520	Frame_Shift_Del	DEL	ENST00000370328.3	37	c.121delC	CCDS14703.1																																																																																				0.512	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		8	1920						8	1920	---	---	---	---
PNMA3	29944	broad.mit.edu	37	X	152225996	152225997	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:152225996_152225997insG	ENST00000370264.4	+	1	610_611	c.584_585insG	c.(583-588)caggtgfs	p.V196fs	PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.V196fs|PNMA3_ENST00000447306.1_Frame_Shift_Ins_p.V196fs			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	196					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cagatgtggcaggtgcccgagg	0.574																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(583-585)cgtfs		paraneoplastic Ma antigen 3																																				SO:0001589	frameshift_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152225996_152225997insG	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.586dupG	X.37:g.152225998_152225998dupG	ENSP00000359286:p.Val196fs					PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.R195fs|PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.R195fs	p.R195fs	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	920_921	+	Acute lymphoblastic leukemia(192;6.56e-05)		195					D3DWT7|Q9H0A4	Frame_Shift_Ins	INS	ENST00000370264.4	37	c.584_585insG	CCDS35435.2																																																																																				0.574	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		11	1297						11	1297	---	---	---	---
PNMA3	29944	broad.mit.edu	37	X	152226003	152226004	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:152226003_152226004insG	ENST00000370264.4	+	1	617_618	c.591_592insG	c.(592-594)gagfs	p.E198fs	PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.E198fs|PNMA3_ENST00000447306.1_Frame_Shift_Ins_p.E198fs			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	198					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggcaggtgcccgagggggaaaa	0.574																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(589-594)ccagggfs		paraneoplastic Ma antigen 3																																				SO:0001589	frameshift_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226003_152226004insG	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.592dupG	X.37:g.152226004_152226004dupG	ENSP00000359286:p.Glu198fs					PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.G198fs|PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.G198fs	p.G198fs	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	927_928	+	Acute lymphoblastic leukemia(192;6.56e-05)		198					D3DWT7|Q9H0A4	Frame_Shift_Ins	INS	ENST00000370264.4	37	c.591_592insG	CCDS35435.2																																																																																				0.574	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		9	1169						9	1169	---	---	---	---
IL9R	3581	broad.mit.edu	37	X	155239799	155239801	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrX:155239799_155239801delAGC	ENST00000244174.5	+	9	1470_1472	c.1291_1293delAGC	c.(1291-1293)agcdel	p.S438del	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_In_Frame_Del_p.S417del	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	438	Poly-Ser.			S -> SS (in Ref. 1; AAA58679 and 4; AAL55435). {ECO:0000305}.	cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGgcagcaggagcagcagcagca	0.621														360	0.071885	0.2579	0.013	5008	,	,		19133	0.001		0.005	False		,,,				2504	0.0041					ENST00000424344.3																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(1228-1230)del		interleukin 9 receptor																																				SO:0001651	inframe_deletion	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239799_155239801delAGC	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1291_1293delAGC	X.37:g.155239808_155239810delAGC	ENSP00000244174:p.Ser438del					IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_In_Frame_Del_p.S438del|IL9R_ENST00000540897.1_3'UTR	p.S417del			Q01113	IL9R_HUMAN			10	1595_1597	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		438					B9ZVT0|Q14634|Q8WWU1|Q96TF0	In_Frame_Del	DEL	ENST00000244174.5	37	c.1228_1230delAGC	CCDS14771.4																																																																																				0.621	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		8	218						8	218	---	---	---	---
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-HZ-8637-01A-11D-2396-08	TCGA-HZ-8637-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a	5aa2b147-56e6-46e5-829f-ba6ac30defb8	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						ENST00000515896.1																			0																																																			0							g.chrY:10037863delC			Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC														0	100	+									RNA	DEL	ENST00000515896.1	37																																																																																						0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	rRNA				15	123						15	123	---	---	---	---
