#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
ANKRD30BL	554226	broad.mit.edu	37	2	132905741	132905741	+	Missense_Mutation	SNP	G	G	A	rs111770980		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr2:132905741G>A	ENST00000409867.1	-	6	989	c.740C>T	c.(739-741)aCg>aTg	p.T247M	ANKRD30BL_ENST00000470729.1_5'UTR			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	247										endometrium(1)|kidney(3)	4						GCTTTCAGCCGTGTCAGGTGT	0.438																																						ENST00000409867.1																			0				endometrium(1)|kidney(3)	4						c.(739-741)aCg>aTg		ankyrin repeat domain 30B-like																																				SO:0001583	missense	554226							g.chr2:132905741G>A			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.740C>T	2.37:g.132905741G>A	ENSP00000386398:p.Thr247Met					ANKRD30BL_ENST00000470729.1_5'UTR	p.T247M							6	989	-								B8ZZL7	Missense_Mutation	SNP	ENST00000409867.1	37	c.740C>T		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.579831	0.00129	.	.	ENSG00000163046	ENST00000409867	T	0.40225	1.04	0.109	-0.218	0.13142	.	.	.	.	.	T	0.25158	0.0611	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20306	-1.0279	5	0.36615	T	0.2	.	.	.	.	.	.	.	.	M	247	ENSP00000386398:T247M	ENSP00000386398:T247M	T	-	2	0	ANKRD30BL	132622211	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-2.520000	0.00951	-2.990000	0.00280	-3.030000	0.00073	ACG		0.438	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019		3	19	0	0	0	1	0	3	19				
FAM83A	84985	broad.mit.edu	37	8	124195302	124195302	+	Missense_Mutation	SNP	A	A	G			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr8:124195302A>G	ENST00000518448.1	+	2	2220	c.206A>G	c.(205-207)cAg>cGg	p.Q69R	RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000546351.1_Missense_Mutation_p.Q69R|U3_ENST00000408534.1_RNA|FAM83A_ENST00000536633.1_Missense_Mutation_p.Q69R|FAM83A_ENST00000318462.6_Missense_Mutation_p.Q69R|FAM83A_ENST00000276699.6_Missense_Mutation_p.Q69R|FAM83A_ENST00000522648.1_Missense_Mutation_p.Q69R			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	69										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGGAGGCCCAGTACATCCAG	0.677																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(205-207)cAg>cGg		family with sequence similarity 83, member A							45.0	40.0	41.0					8																	124195302		2203	4300	6503	SO:0001583	missense	84985							g.chr8:124195302A>G	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.206A>G	8.37:g.124195302A>G	ENSP00000428876:p.Gln69Arg					FAM83A_ENST00000536633.1_Missense_Mutation_p.Q69R|FAM83A_ENST00000522648.1_Missense_Mutation_p.Q69R|FAM83A_ENST00000318462.6_Missense_Mutation_p.Q69R|FAM83A_ENST00000276699.6_Missense_Mutation_p.Q69R|FAM83A_ENST00000546351.1_Missense_Mutation_p.Q69R	p.Q69R			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		2	2220	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		69					Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.206A>G	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.056697	0.36277	.	.	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.11169	2.8;2.94;2.8;2.8;2.94;2.8	5.36	3.04	0.35103	.	0.387988	0.28047	N	0.016812	T	0.05273	0.0140	N	0.12471	0.22	0.30547	N	0.765902	B;B;B	0.12630	0.004;0.004;0.006	B;B;B	0.14578	0.006;0.006;0.011	T	0.25502	-1.0130	10	0.10902	T	0.67	-27.463	9.9861	0.41843	0.8264:0.0:0.1736:0.0	.	69;69;69	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	R	69	ENSP00000428876:Q69R;ENSP00000440565:Q69R;ENSP00000445218:Q69R;ENSP00000323034:Q69R;ENSP00000427979:Q69R;ENSP00000276699:Q69R	ENSP00000276699:Q69R	Q	+	2	0	FAM83A	124264483	0.016000	0.18221	1.000000	0.80357	0.988000	0.76386	1.120000	0.31271	2.013000	0.59113	0.459000	0.35465	CAG		0.677	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		25	43	0	0	0	1	0	25	43				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	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		4	95	0	0	0	1	0	4	95				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	5	60	0	0	0	1	0	5	60				
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs374686280		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACTACCCAGATGAGCTGCAGT	0.488																																						ENST00000603901.1																			0																																																			154754							g.chr7:142481789T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481789T>C								NR_001296.3						0	468	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.488	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	191	0	0	0	1	0	4	191				
USP31	57478	broad.mit.edu	37	16	23117810	23117810	+	Splice_Site	SNP	T	T	A	rs137886921	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr16:23117810T>A	ENST00000219689.7	-	3	771		c.e3-2			NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31						ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGATGGTGGCTAAAAAAAAAA	0.388																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.e3-2		ubiquitin specific peptidase 31							42.0	40.0	40.0					16																	23117810		2197	4300	6497	SO:0001630	splice_region_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23117810T>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.772-2A>T	16.37:g.23117810T>A								NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	3	771	-								B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Splice_Site	SNP	ENST00000219689.7	37		CCDS10607.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316014	0.81469	.	.	ENSG00000103404	ENST00000219689	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0849	0.72145	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP31	23025311	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	7.606000	0.82863	2.214000	0.71695	0.523000	0.50628	.		0.388	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	Intron	3	29	0	0	0	1	0	3	29				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	197	0	0	0	1	0	4	197				
PPP1R13L	10848	broad.mit.edu	37	19	45885941	45885941	+	Silent	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr19:45885941G>A	ENST00000418234.2	-	12	2370	c.2292C>T	c.(2290-2292)taC>taT	p.Y764Y	PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	764	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCCAGAGAGCGTACACTGCCC	0.662																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2290-2292)taC>taT		protein phosphatase 1, regulatory subunit 13 like							62.0	51.0	55.0					19																	45885941		2203	4300	6503	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45885941G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2292C>T	19.37:g.45885941G>A						PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	p.Y764Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	12	2370	-		all_neural(266;0.224)|Ovarian(192;0.231)	764			SH3.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2292C>T	CCDS33050.1																																																																																				0.662	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		32	38	0	0	0	1	0	32	38				
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667																																						ENST00000391413.2																			6	Substitution - coding silent(6)	p.R51R(6)	endometrium(3)|kidney(2)|lung(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)agG>agA		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274415		682	1579	2261	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274415C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.153G>A	17.37:g.39274415C>T							p.R51R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	191	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.153G>A	CCDS45675.1																																																																																				0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	61	0	0	0	1	0	5	61				
SGSM1	129049	broad.mit.edu	37	22	25243680	25243680	+	Silent	SNP	C	C	G			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr22:25243680C>G	ENST00000400359.4	+	4	226	c.219C>G	c.(217-219)ctC>ctG	p.L73L	SGSM1_ENST00000400358.4_Silent_p.L73L	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	73	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTGCAGCCCTCTTTATGAAAG	0.617																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(217-219)ctC>ctG		small G protein signaling modulator 1							23.0	25.0	25.0					22																	25243680		1974	4161	6135	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25243680C>G	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.219C>G	22.37:g.25243680C>G						SGSM1_ENST00000400359.4_Silent_p.L73L	p.L73L	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			4	276	+			73			RUN.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.219C>G	CCDS46674.1																																																																																				0.617	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		31	7	0	0	0	1	0	31	7				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	119	1	0	0.000602214	1	0.000625831	5	119				
FLG2	388698	broad.mit.edu	37	1	152326017	152326017	+	Missense_Mutation	SNP	C	C	A	rs200173482		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr1:152326017C>A	ENST00000388718.5	-	3	4317	c.4245G>T	c.(4243-4245)agG>agT	p.R1415S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1415					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCAGTTGTCCTGGACCCTC	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4243-4245)agG>agT		filaggrin family member 2							268.0	254.0	259.0					1																	152326017		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326017C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4245G>T	1.37:g.152326017C>A	ENSP00000373370:p.Arg1415Ser					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.R1415S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4317	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1415					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4245G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	1.080	-0.667351	0.03428	.	.	ENSG00000143520	ENST00000388718	T	0.03663	3.85	3.86	-7.71	0.01254	.	.	.	.	.	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.04013	0.001	T	0.47886	-0.9082	9	0.07325	T	0.83	0.4423	1.4492	0.02371	0.1718:0.1676:0.3822:0.2784	.	1415	Q5D862	FILA2_HUMAN	S	1415	ENSP00000373370:R1415S	ENSP00000373370:R1415S	R	-	3	2	FLG2	150592641	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-10.701000	0.00005	-2.959000	0.00290	-0.514000	0.04452	AGG		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	511	1	0	0.00307968	1	0.0031389	8	511				
RBBP5	5929	broad.mit.edu	37	1	205070793	205070793	+	Missense_Mutation	SNP	G	G	C			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr1:205070793G>C	ENST00000264515.6	-	6	708	c.567C>G	c.(565-567)ttC>ttG	p.F189L	RBBP5_ENST00000367164.1_Missense_Mutation_p.F189L	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	189					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTGTCACTCTGAAGGAAGCAA	0.393																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(565-567)ttC>ttG		retinoblastoma binding protein 5							192.0	191.0	191.0					1																	205070793		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205070793G>C	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.567C>G	1.37:g.205070793G>C	ENSP00000264515:p.Phe189Leu					RBBP5_ENST00000367164.1_Missense_Mutation_p.F189L	p.F189L	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		6	708	-	Breast(84;0.0505)		189					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.567C>G	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820810	0.90873	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.19806	2.12;2.12	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	M	0.64567	1.98	0.80722	D	1	P;B;P;P	0.51057	0.849;0.275;0.633;0.941	P;B;B;P	0.49421	0.61;0.164;0.417;0.577	T	0.01972	-1.1237	10	0.17369	T	0.5	.	19.6763	0.95934	0.0:0.0:1.0:0.0	.	62;224;189;189	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	L	189	ENSP00000264515:F189L;ENSP00000356132:F189L	ENSP00000264515:F189L	F	-	3	2	RBBP5	203337416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.524000	0.73791	2.744000	0.94065	0.586000	0.80456	TTC		0.393	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		117	143	0	0	0	1	0	117	143				
MBD5	55777	broad.mit.edu	37	2	149227911	149227911	+	Missense_Mutation	SNP	G	G	A	rs201668347		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr2:149227911G>A	ENST00000407073.1	+	9	3396	c.2399G>A	c.(2398-2400)gGc>gAc	p.G800D	MBD5_ENST00000404807.1_Missense_Mutation_p.G800D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	800					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGTCAGTCGGGCATGGCTTTA	0.453													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17172	0.0		0.0	False		,,,				2504	0.0					ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(2398-2400)gGc>gAc		methyl-CpG binding domain protein 5							123.0	115.0	118.0					2																	149227911		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149227911G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2399G>A	2.37:g.149227911G>A	ENSP00000386049:p.Gly800Asp					MBD5_ENST00000404807.1_Missense_Mutation_p.G800D	p.G800D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	3396	+			800					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2399G>A	CCDS33302.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	16.13|16.13	3.036345|3.036345	0.54896|0.54896	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.57595	.|0.43;0.39	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.000000	.|0.64402	.|D	.|0.000012	T|T	0.60508|0.60508	0.2274|0.2274	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.91635	.|0.995;0.999	T|T	0.62996|0.62996	-0.6735|-0.6735	5|10	.|0.54805	.|T	.|0.06	-4.5094|-4.5094	16.9333|16.9333	0.86196|0.86196	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|800;800	.|Q9P267-2;Q9P267	.|.;MBD5_HUMAN	T|D	540|800	.|ENSP00000386049:G800D;ENSP00000384672:G800D	.|ENSP00000384672:G800D	A|G	+|+	1|2	0|0	MBD5|MBD5	148944381|148944381	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.613000|5.613000	0.67688|0.67688	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.453	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			4	195	0	0	0	1	0	4	195				
LTBP3	4054	broad.mit.edu	37	11	65314941	65314941	+	Silent	SNP	C	C	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:65314941C>T	ENST00000301873.5	-	14	2344	c.2076G>A	c.(2074-2076)cgG>cgA	p.R692R	LTBP3_ENST00000536982.1_Silent_p.R318R|LTBP3_ENST00000322147.4_Silent_p.R692R|LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000532932.1_Silent_p.R122R|LTBP3_ENST00000529189.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	692	Cys-rich.|EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGCTTTGAGCCGGTAGCCGG	0.627																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2074-2076)cgG>cgA		latent transforming growth factor beta binding protein 3							71.0	81.0	78.0					11																	65314941		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65314941C>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2076G>A	11.37:g.65314941C>T						LTBP3_ENST00000532932.1_Silent_p.R122R|LTBP3_ENST00000322147.4_Silent_p.R692R|LTBP3_ENST00000536982.1_Silent_p.R318R	p.R692R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			14	2344	-			692			Cys-rich.|EGF-like 5; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.2076G>A	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202235	0.22121	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.63	0.535	0.17133	.	.	.	.	.	T	0.50051	0.1593	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31998	-0.9923	4	.	.	.	.	4.3839	0.11307	0.0:0.552:0.1659:0.2821	.	.	.	.	T	343	.	.	A	-	1	0	LTBP3	65071517	0.998000	0.40836	0.993000	0.49108	0.910000	0.53928	0.454000	0.21827	-0.177000	0.10690	0.313000	0.20887	GCT		0.627	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		4	131	0	0	0	1	0	4	131				
BICC1	80114	broad.mit.edu	37	10	60553271	60553271	+	Missense_Mutation	SNP	G	G	C			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr10:60553271G>C	ENST00000373886.3	+	9	1079	c.1075G>C	c.(1075-1077)Gat>Cat	p.D359H	BICC1_ENST00000263103.1_5'Flank	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	359					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GTTGATGTTTGATATGAAGGA	0.358																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(1075-1077)Gat>Cat		bicaudal C homolog 1 (Drosophila)							141.0	130.0	134.0					10																	60553271		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60553271G>C	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1075G>C	10.37:g.60553271G>C	ENSP00000362993:p.Asp359His						p.D359H	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			9	1079	+			359						Missense_Mutation	SNP	ENST00000373886.3	37	c.1075G>C	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831382	0.91036	.	.	ENSG00000122870	ENST00000373886	T	0.44881	0.91	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70281	-0.4915	10	0.56958	D	0.05	-19.7023	19.9664	0.97271	0.0:0.0:1.0:0.0	.	359	Q9H694	BICC1_HUMAN	H	359	ENSP00000362993:D359H	ENSP00000362993:D359H	D	+	1	0	BICC1	60223277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.718000	0.92993	0.655000	0.94253	GAT		0.358	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		5	104	0	0	0	1	0	5	104				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	103	0	0	0	1	0	4	103				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000567960.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																197331							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000564451.1_RNA								0	354	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	89	0	0	0	1	0	6	89				
MMP27	64066	broad.mit.edu	37	11	102567138	102567138	+	Missense_Mutation	SNP	G	G	T	rs547057032		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:102567138G>T	ENST00000260229.4	-	6	957	c.866C>A	c.(865-867)aCa>aAa	p.T289K		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	289					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	GCGGAAAGTTGTGATAGCGTC	0.413																																						ENST00000260229.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(865-867)aCa>aAa		matrix metallopeptidase 27							166.0	171.0	169.0					11																	102567138		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102567138G>T	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.866C>A	11.37:g.102567138G>T	ENSP00000260229:p.Thr289Lys						p.T289K	NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	6	957	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	289			Hemopexin-like 1.		Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.866C>A	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675309	0.88445	.	.	ENSG00000137675	ENST00000260229	T	0.02890	4.12	6.08	6.08	0.98989	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000005	T	0.24967	0.0606	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02821	-1.1106	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	289	Q9H306	MMP27_HUMAN	K	289	ENSP00000260229:T289K	ENSP00000260229:T289K	T	-	2	0	MMP27	102072348	1.000000	0.71417	0.999000	0.59377	0.743000	0.42351	7.540000	0.82074	2.894000	0.99253	0.591000	0.81541	ACA		0.413	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		42	54	1	0	3.76604e-16	1	4.07347e-16	42	54				
POLG	5428	broad.mit.edu	37	15	89862284	89862284	+	Missense_Mutation	SNP	C	C	A	rs121918049		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr15:89862284C>A	ENST00000268124.5	-	20	3484	c.3151G>T	c.(3151-3153)Ggg>Tgg	p.G1051W	POLG_ENST00000442287.2_Missense_Mutation_p.G1051W	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1051			G -> R (in SANDO). {ECO:0000269|PubMed:14745080}.		aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCTGTGCCCCCCTTCCATGCC	0.532								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	GRCh37	CM040472	POLG	M	rs121918049	c.(3151-3153)Ggg>Tgg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							136.0	121.0	126.0					15																	89862284		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89862284C>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3151G>T	15.37:g.89862284C>A	ENSP00000268124:p.Gly1051Trp					POLG_ENST00000442287.2_Missense_Mutation_p.G1051W	p.G1051W	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		20	3484	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		1051		G -> R (in SANDO).			Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.3151G>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108785	0.77096	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.99252	-5.63;-5.63	5.21	5.21	0.72293	DNA-directed DNA polymerase, family A, palm domain (2);	0.045182	0.85682	D	0.000000	D	0.99450	0.9805	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98408	1.0571	10	0.87932	D	0	-37.521	13.2575	0.60087	0.0:0.9244:0.0:0.0756	.	1051	P54098	DPOG1_HUMAN	W	1051	ENSP00000268124:G1051W;ENSP00000399851:G1051W	ENSP00000268124:G1051W	G	-	1	0	POLG	87663288	1.000000	0.71417	0.994000	0.49952	0.909000	0.53808	4.530000	0.60595	2.716000	0.92895	0.561000	0.74099	GGG		0.532	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		4	173	1	0	1	1	1	4	173				
CDH15	1013	broad.mit.edu	37	16	89261332	89261332	+	Silent	SNP	C	C	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr16:89261332C>T	ENST00000289746.2	+	14	2279	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	738					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TCATCTATGACTACGAGGGTG	0.622																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2212-2214)gaC>gaT		cadherin 15, type 1, M-cadherin (myotubule)							31.0	29.0	30.0					16																	89261332		2180	4289	6469	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89261332C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2214C>T	16.37:g.89261332C>T							p.D738D	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	14	2279	+			738						Silent	SNP	ENST00000289746.2	37	c.2214C>T	CCDS10976.1																																																																																				0.622	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		22	56	0	0	0	1	0	22	56				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	98	0	0	0	1	0	8	98				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		4	90	0	0	0	1	0	4	90				
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	lincRNA	SNP	T	T	A	rs13566	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr1:16945409T>A	ENST00000412962.1	-	0	2110				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCGGGATAGCTCGGTGGAGAG	0.612													.|||	1533	0.30611	0.2254	0.3473	5008	,	,		64331	0.2113		0.3767	False		,,,				2504	0.411					ENST00000412962.1																			0																																																			84809							g.chr1:16945409T>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945409T>A														0	2110	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.612	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	26	0	0	0	1	0	7	26				
SRPK1	6732	broad.mit.edu	37	6	35810383	35810383	+	Splice_Site	SNP	T	T	A	rs372527508|rs371577081	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr6:35810383T>A	ENST00000373825.2	-	14	1906		c.e14-2		SRPK1_ENST00000373822.1_Splice_Site|SRPK1_ENST00000423325.2_Splice_Site					SRSF protein kinase 1									p.?(2)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCAAAGGCCTAAAAAAAAAA	0.418																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.e14-2		SRSF protein kinase 1							55.0	50.0	52.0					6																	35810383		1838	4093	5931	SO:0001630	splice_region_variant	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35810383T>A	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1621-2A>T	6.37:g.35810383T>A						SRPK1_ENST00000423325.2_Splice_Site|SRPK1_ENST00000373822.1_Splice_Site				Q96SB4	SRPK1_HUMAN			14	1906	-									Splice_Site	SNP	ENST00000373825.2	37		CCDS47415.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331210	0.81690	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1951	0.73081	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRPK1	35918361	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	7.651000	0.83577	2.051000	0.60960	0.402000	0.26972	.		0.418	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	Intron	3	36	0	0	0	1	0	3	36				
CRY1	1407	broad.mit.edu	37	12	107391082	107391082	+	Silent	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr12:107391082G>A	ENST00000008527.5	-	10	2442	c.1575C>T	c.(1573-1575)agC>agT	p.S525S		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	525					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TTCCACTGCTGCTACAACCTG	0.343																																						ENST00000008527.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(1573-1575)agC>agT		cryptochrome 1 (photolyase-like)							162.0	168.0	166.0					12																	107391082		2203	4300	6503	SO:0001819	synonymous_variant	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107391082G>A	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1575C>T	12.37:g.107391082G>A							p.S525S	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN			10	2442	-			525						Silent	SNP	ENST00000008527.5	37	c.1575C>T	CCDS9112.1																																																																																				0.343	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		5	488	0	0	0	1	0	5	488				
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)gaG>gaA		KN motif and ankyrin repeat domains 1							153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732477G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A						KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E	p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1035					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3105G>A	CCDS34976.1																																																																																				0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		4	168	0	0	0	1	0	4	168				
CD37	951	broad.mit.edu	37	19	49840216	49840216	+	Missense_Mutation	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr19:49840216G>A	ENST00000323906.4	+	3	334	c.193G>A	c.(193-195)Gga>Aga	p.G65R	CD37_ENST00000535669.2_Missense_Mutation_p.G65R|CD37_ENST00000426897.2_5'UTR|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000598095.1_5'UTR	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	65					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GGCCATCTCAGGAATCTTCAC	0.632																																						ENST00000535669.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11						c.(193-195)Gga>Aga		CD37 molecule							101.0	86.0	91.0					19																	49840216		2203	4300	6503	SO:0001583	missense	951					integral to membrane		g.chr19:49840216G>A		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.193G>A	19.37:g.49840216G>A	ENSP00000325708:p.Gly65Arg					CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000323906.4_Missense_Mutation_p.G65R|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000426897.2_5'UTR|CD37_ENST00000598095.1_5'UTR	p.G65R			P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	3	307	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	65					B4DVC1|Q3KPF9	Missense_Mutation	SNP	ENST00000323906.4	37	c.193G>A	CCDS12760.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510287	0.44660	.	.	ENSG00000104894	ENST00000391859;ENST00000323906;ENST00000535669	D;D;D	0.89875	-2.58;-2.58;-2.58	4.35	4.35	0.52113	Tetraspanin, conserved site (1);	0.000000	0.56097	D	0.000028	D	0.95108	0.8415	M	0.91872	3.25	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	0.95790	0.8824	10	0.87932	D	0	.	12.742	0.57257	0.0:0.0:1.0:0.0	.	65;65;65	B7ZAN3;B4DW15;P11049	.;.;CD37_HUMAN	R	65	ENSP00000375732:G65R;ENSP00000325708:G65R;ENSP00000441037:G65R	ENSP00000325708:G65R	G	+	1	0	CD37	54532028	1.000000	0.71417	0.037000	0.18230	0.004000	0.04260	5.828000	0.69307	2.162000	0.67917	0.467000	0.42956	GGA		0.632	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			3	51	0	0	0	1	0	3	51				
TIMM10	26519	broad.mit.edu	37	11	57296266	57296266	+	Missense_Mutation	SNP	C	C	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:57296266C>T	ENST00000257245.4	-	3	349	c.197G>A	c.(196-198)gGc>gAc	p.G66D	TIMM10_ENST00000525158.1_Missense_Mutation_p.G66D|TIMM10_ENST00000525587.1_Missense_Mutation_p.G66D	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10 homolog (yeast)	66					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(2)	3						CAACTTTTTGCCCATCCGCTC	0.542																																						ENST00000257245.4																			0				cervix(1)|large_intestine(2)	3						c.(196-198)gGc>gAc		translocase of inner mitochondrial membrane 10 homolog (yeast)							157.0	134.0	142.0					11																	57296266		2201	4296	6497	SO:0001583	missense	26519				protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding	g.chr11:57296266C>T	AF152354	CCDS7959.1	11q12.1-q12.3	2008-07-21	2001-11-28			ENSG00000134809			11814	protein-coding gene	gene with protein product		602251	"""translocase of inner mitochondrial membrane 10 (yeast) homolog"""			10552927	Standard	NM_012456		Approved	TIM10, TIM10A	uc001nkm.1	P62072		ENST00000257245.4:c.197G>A	11.37:g.57296266C>T	ENSP00000257245:p.Gly66Asp					TIMM10_ENST00000525587.1_Missense_Mutation_p.G66D|TIMM10_ENST00000525158.1_Missense_Mutation_p.G66D	p.G66D	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN			3	349	-			66					A8K136|Q9WV99|Q9WVA0|Q9Y5J8	Missense_Mutation	SNP	ENST00000257245.4	37	c.197G>A	CCDS7959.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302762	0.95601	.	.	ENSG00000134809	ENST00000257245;ENST00000525587;ENST00000525158	T;T;T	0.66280	-0.2;-0.2;-0.2	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.81574	0.4851	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83033	-0.0161	9	0.87932	D	0	-41.416	19.6068	0.95584	0.0:1.0:0.0:0.0	.	66	P62072	TIM10_HUMAN	D	66	ENSP00000257245:G66D;ENSP00000435678:G66D;ENSP00000433627:G66D	ENSP00000257245:G66D	G	-	2	0	TIMM10	57052842	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.640000	0.83355	2.744000	0.94065	0.563000	0.77884	GGC		0.542	TIMM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392595.1	NM_012456		4	154	0	0	0	1	0	4	154				
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	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)																																																197331							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		5	178	0	0	0	1	0	5	178				
FANCI	55215	broad.mit.edu	37	15	89804896	89804896	+	Missense_Mutation	SNP	T	T	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr15:89804896T>A	ENST00000310775.7	+	5	455	c.369T>A	c.(367-369)aaT>aaA	p.N123K	FANCI_ENST00000567996.1_Missense_Mutation_p.N123K|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.N123K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	123					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCCTAGTGAATGGAAAATCTT	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(367-369)aaT>aaA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							210.0	202.0	205.0					15																	89804896		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89804896T>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.369T>A	15.37:g.89804896T>A	ENSP00000310842:p.Asn123Lys					FANCI_ENST00000567996.1_Missense_Mutation_p.N123K|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.N123K	p.N123K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			5	455	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		123					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.369T>A	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081415	0.55753	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.43294	0.95;0.95;0.95	5.27	2.97	0.34412	.	0.199329	0.42172	D	0.000757	T	0.34454	0.0898	M	0.65975	2.015	0.80722	D	1	B;P	0.40834	0.056;0.73	B;B	0.36244	0.047;0.22	T	0.12656	-1.0539	10	0.12766	T	0.61	-14.8215	9.6974	0.40165	0.0:0.1408:0.0:0.8592	.	123;123	Q9NVI1;Q9NVI1-1	FANCI_HUMAN;.	K	123	ENSP00000300027:N123K;ENSP00000310842:N123K;ENSP00000413249:N123K	ENSP00000300027:N123K	N	+	3	2	FANCI	87605900	1.000000	0.71417	0.957000	0.39632	0.988000	0.76386	2.815000	0.48018	0.463000	0.27118	0.533000	0.62120	AAT		0.398	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		123	213	0	0	0	1	0	123	213				
NWD1	284434	broad.mit.edu	37	19	16902242	16902242	+	Missense_Mutation	SNP	G	G	A	rs574827018		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr19:16902242G>A	ENST00000552788.1	+	12	3022	c.3022G>A	c.(3022-3024)Gtg>Atg	p.V1008M	NWD1_ENST00000339803.6_Missense_Mutation_p.V873M|NWD1_ENST00000524140.2_Missense_Mutation_p.V1008M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M|NWD1_ENST00000523826.1_Missense_Mutation_p.V802M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1008							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGCATGGCCGTGCTGGCCTC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		18845	0.0		0.0	False		,,,				2504	0.001					ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3022-3024)Gtg>Atg		NACHT and WD repeat domain containing 1							103.0	92.0	96.0					19																	16902242		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16902242G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3022G>A	19.37:g.16902242G>A	ENSP00000447224:p.Val1008Met					NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M|NWD1_ENST00000523826.1_Missense_Mutation_p.V802M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000339803.6_Missense_Mutation_p.V873M|NWD1_ENST00000552788.1_Missense_Mutation_p.V1008M	p.V1008M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			14	3440	+			1008					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3022G>A		.	.	.	.	.	.	.	.	.	.	G	9.459	1.092560	0.20471	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.44083	1.48;0.93;1.48;3.41;3.41;3.41	5.44	-0.905	0.10527	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.392410	0.04551	N	0.389874	T	0.22859	0.0552	L	0.27053	0.805	0.09310	N	1	B;P;B	0.43578	0.338;0.811;0.338	B;B;B	0.30029	0.015;0.11;0.023	T	0.15521	-1.0434	10	0.39692	T	0.17	-4.4714	4.2802	0.10829	0.1393:0.113:0.6327:0.115	.	1008;1008;873	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	873;1008;1008;1008;802;1008;873	ENSP00000428579:V1008M;ENSP00000447548:V1008M;ENSP00000369136:V1008M;ENSP00000428955:V802M;ENSP00000447224:V1008M;ENSP00000340159:V873M	ENSP00000340159:V873M	V	+	1	0	NWD1	16763242	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.312000	0.19397	-0.554000	0.06150	-2.048000	0.00412	GTG		0.517	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		71	90	0	0	0	1	0	71	90				
CDK5RAP3	80279	broad.mit.edu	37	17	46051813	46051813	+	Splice_Site	SNP	A	A	C			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr17:46051813A>C	ENST00000338399.4	+	5	439	c.333A>C	c.(331-333)ttA>ttC	p.L111F	CDK5RAP3_ENST00000536708.2_Splice_Site_p.L136F|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	111					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						ACACCTACTTAGGTAAAGTGG	0.498																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.e5+1		CDK5 regulatory subunit associated protein 3							127.0	125.0	126.0					17																	46051813		1904	4126	6030	SO:0001630	splice_region_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46051813A>C	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.334+1A>C	17.37:g.46051813A>C						CDK5RAP3_ENST00000338399.4_Splice_Site_p.L111_splice	p.L136_splice	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			5	517	+			111					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Splice_Site	SNP	ENST00000338399.4	37	c.409_splice	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341026	0.81911	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.68765	-0.35;-0.35	5.64	-0.626	0.11544	.	0.000000	0.64402	D	0.000001	T	0.80330	0.4603	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77054	-0.2730	10	0.72032	D	0.01	-34.8137	5.44	0.16501	0.5412:0.1423:0.3165:0.0	.	111	Q96JB5	CK5P3_HUMAN	F	136;111	ENSP00000438886:L136F;ENSP00000344683:L111F	ENSP00000344683:L111F	L	+	3	2	CDK5RAP3	43406812	0.998000	0.40836	0.999000	0.59377	0.977000	0.68977	0.670000	0.25157	0.103000	0.17682	0.533000	0.62120	TTA		0.498	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096	Missense_Mutation	38	79	0	0	0	1	0	38	79				
ACAN	176	broad.mit.edu	37	15	89402355	89402355	+	Missense_Mutation	SNP	A	A	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr15:89402355A>T	ENST00000561243.1	+	11	6539	c.6539A>T	c.(6538-6540)gAg>gTg	p.E2180V	ACAN_ENST00000559004.1_Missense_Mutation_p.E2180V|ACAN_ENST00000352105.7_Missense_Mutation_p.E2180V|ACAN_ENST00000439576.2_Missense_Mutation_p.E2180V			P16112	PGCA_HUMAN	aggrecan	2065	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGGGACAGAGGCACCAGGC	0.592																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6538-6540)gAg>gTg		aggrecan							62.0	67.0	65.0					15																	89402355		2086	4216	6302	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402355A>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6539A>T	15.37:g.89402355A>T	ENSP00000453342:p.Glu2180Val					ACAN_ENST00000561243.1_Missense_Mutation_p.E2180V|ACAN_ENST00000559004.1_Missense_Mutation_p.E2180V|ACAN_ENST00000352105.7_Missense_Mutation_p.E2180V	p.E2180V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6913	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2180					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6539A>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	A	7.179	0.589199	0.13812	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02916	4.39;4.11	5.15	4.03	0.46877	.	0.656995	0.11844	N	0.524008	T	0.10766	0.0263	M	0.70595	2.14	0.09310	N	1	D;D	0.63046	0.964;0.992	P;P	0.62649	0.706;0.905	T	0.19614	-1.0300	10	0.42905	T	0.14	-7.8238	7.2637	0.26217	0.8163:0.0:0.1837:0.0	.	2180;2180	E7ENV9;E7EX88	.;.	V	2180;2180;2066	ENSP00000387356:E2180V;ENSP00000341615:E2180V	ENSP00000268134:E2066V	E	+	2	0	ACAN	87203359	0.752000	0.28338	0.007000	0.13788	0.003000	0.03518	1.488000	0.35551	0.822000	0.34565	0.454000	0.30748	GAG		0.592	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	130	0	0	0	1	0	4	130				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	112	0	0	0	1	0	5	112				
FAM86EP	348926	broad.mit.edu	37	4	3948596	3948596	+	RNA	SNP	C	C	T	rs576229187	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr4:3948596C>T	ENST00000313946.8	-	0	1232				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AGCCAGCCTCCGCAGGACCCC	0.587													.|||	2	0.000399361	0.0	0.0	5008	,	,		15905	0.002		0.0	False		,,,				2504	0.0					ENST00000281228.8																			0																																																			0							g.chr4:3948596C>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3948596C>T						FAM86EP_ENST00000313946.8_RNA								0	789	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.587	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			5	83	0	0	0	1	0	5	83				
CCNI	10983	broad.mit.edu	37	4	77969505	77969505	+	Missense_Mutation	SNP	T	T	C	rs139547927	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr4:77969505T>C	ENST00000237654.4	-	7	1577	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	CCNI_ENST00000537948.1_Missense_Mutation_p.Y320C	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	334					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						GATTCCATCATAGAAGTCATC	0.453																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(1000-1002)tAt>tGt		cyclin I		T	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	140.0	138.0	139.0		1001	5.6	1.0	4	dbSNP_134	139	1,8599	2.2+/-6.3	0,1,4299	yes	missense	CCNI	NM_006835.2	194	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	probably-damaging	334/378	77969505	2,13004	2203	4300	6503	SO:0001583	missense	10983				spermatogenesis			g.chr4:77969505T>C	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.1001A>G	4.37:g.77969505T>C	ENSP00000237654:p.Tyr334Cys					CCNI_ENST00000537948.1_Missense_Mutation_p.Y320C	p.Y334C	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN			7	1577	-			334					B2R6M0|B7Z6X4	Missense_Mutation	SNP	ENST00000237654.4	37	c.1001A>G	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.975891	0.74360	2.27E-4	1.16E-4	ENSG00000118816	ENST00000237654;ENST00000537948	T;T	0.55930	0.49;0.49	5.57	5.57	0.84162	.	0.053990	0.85682	D	0.000000	T	0.72070	0.3415	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.956	T	0.76072	-0.3093	10	0.87932	D	0	-14.2206	15.7408	0.77894	0.0:0.0:0.0:1.0	.	320;334	B7Z6X4;Q14094	.;CCNI_HUMAN	C	334;320	ENSP00000237654:Y334C;ENSP00000441001:Y320C	ENSP00000237654:Y334C	Y	-	2	0	CCNI	78188529	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	5.430000	0.66501	2.114000	0.64651	0.460000	0.39030	TAT		0.453	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		61	112	0	0	0	1	0	61	112				
DENND5A	23258	broad.mit.edu	37	11	9187392	9187392	+	Silent	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:9187392G>A	ENST00000328194.3	-	11	2594	c.2274C>T	c.(2272-2274)tgC>tgT	p.C758C	DENND5A_ENST00000527700.1_Silent_p.C101C|DENND5A_ENST00000530044.1_Silent_p.C758C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	758					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTATTGCGGCATTCCTTCA	0.498																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2272-2274)tgC>tgT		DENN/MADD domain containing 5A							164.0	145.0	151.0					11																	9187392		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9187392G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2274C>T	11.37:g.9187392G>A						DENND5A_ENST00000530044.1_Silent_p.C758C|DENND5A_ENST00000527700.1_Silent_p.C101C	p.C758C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			11	2594	-			758					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.2274C>T	CCDS31423.1																																																																																				0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		4	150	0	0	0	1	0	4	150				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	114	0	0	0	1	0	5	114				
MSLNL	401827	broad.mit.edu	37	16	819596	819596	+	Silent	SNP	C	C	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr16:819596C>T	ENST00000442466.1	-	15	1940	c.1941G>A	c.(1939-1941)gcG>gcA	p.A647A	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Silent_p.A998A			Q96KJ4	MSLNL_HUMAN	mesothelin-like	647					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCAGGGCCATCGCCAGGGGCA	0.652																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(2992-2994)gcG>gcA		mesothelin-like							34.0	39.0	38.0					16																	819596		2032	4177	6209	SO:0001819	synonymous_variant	401827				cell adhesion	integral to membrane		g.chr16:819596C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1941G>A	16.37:g.819596C>T						MSLNL_ENST00000442466.1_Silent_p.A647A	p.A998A			Q96KJ4	MSLNL_HUMAN			16	2993	-			647						Silent	SNP	ENST00000442466.1	37	c.2994G>A																																																																																					0.652	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		3	42	0	0	0	1	0	3	42				
ERCC8	1161	broad.mit.edu	37	5	60240835	60240835	+	Start_Codon_SNP	SNP	T	T	C			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr5:60240835T>C	ENST00000265038.5	-	1	43	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ERCC8_ENST00000543101.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000426742.2_De_novo_Start_OutOfFrame|NDUFAF2_ENST00000296597.5_5'Flank|NDUFAF2_ENST00000511107.1_5'Flank	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	1					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				AACCCCAGCATATCGTGTCCT	0.557																																						ENST00000426742.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14								excision repair cross-complementing rodent repair deficiency, complementation group 8							82.0	77.0	79.0					5																	60240835		2203	4300	6503	SO:0001582	initiator_codon_variant	1161				positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding	g.chr5:60240835T>C	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.1A>G	5.37:g.60240835T>C	ENSP00000265038:p.Met1Val					ERCC8_ENST00000265038.5_Start_Codon_SNP_p.M1V|ERCC8_ENST00000543101.1_De_novo_Start_OutOfFrame				Q13216	ERCC8_HUMAN			0	43	-		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)						B2RB64|Q6FHX5|Q96GB9	Translation_Start_Site	SNP	ENST00000265038.5	37		CCDS3978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.95|15.95	2.983213|2.983213	0.53827|0.53827	.|.	.|.	ENSG00000049167|ENSG00000049167	ENST00000265038|ENST00000536596	T|.	0.69175|.	-0.38|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66489|0.66489	0.2794|0.2794	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.996|.	D;P|.	0.80764|.	0.994;0.901|.	T|T	0.67106|0.67106	-0.5754|-0.5754	9|5	0.87932|0.48119	D|T	0|0.1	-20.6274|-20.6274	12.1892|12.1892	0.54261|0.54261	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1;1|.	Q13216-2;Q13216|.	.;ERCC8_HUMAN|.	V|C	1|14	ENSP00000265038:M1V|.	ENSP00000265038:M1V|ENSP00000442219:Y14C	M|Y	-|-	1|2	0|0	ERCC8|ERCC8	60276592|60276592	0.998000|0.998000	0.40836|0.40836	0.762000|0.762000	0.31397|0.31397	0.199000|0.199000	0.23934|0.23934	4.257000|4.257000	0.58816|0.58816	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.557	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2	NM_000082	Missense_Mutation	5	87	0	0	0	1	0	5	87				
OXER1	165140	broad.mit.edu	37	2	42990174	42990174	+	Silent	SNP	G	G	A	rs145580414	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr2:42990174G>A	ENST00000378661.2	-	1	1227	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	382					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						AGGAGCTCTCGTCGCTCACTG	0.667													.|||	4	0.000798722	0.003	0.0	5008	,	,		18531	0.0		0.0	False		,,,				2504	0.0					ENST00000378661.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(1144-1146)gaC>gaT		oxoeicosanoid (OXE) receptor 1		G		16,4390	20.2+/-43.8	0,16,2187	42.0	46.0	45.0		1146	-8.0	0.0	2	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	OXER1	NM_148962.4		0,16,6487	AA,AG,GG		0.0,0.3631,0.123		382/424	42990174	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42990174G>A	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.1146C>T	2.37:g.42990174G>A							p.D382D	NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN			1	1227	-			382					Q86WP7|Q8NGW4	Silent	SNP	ENST00000378661.2	37	c.1146C>T	CCDS1810.1																																																																																				0.667	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		37	66	0	0	0	1	0	37	66				
P4HA2	8974	broad.mit.edu	37	5	131534588	131534588	+	Missense_Mutation	SNP	T	T	C			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr5:131534588T>C	ENST00000401867.1	-	12	1857	c.1289A>G	c.(1288-1290)cAc>cGc	p.H430R	P4HA2_ENST00000360568.3_Missense_Mutation_p.H430R|P4HA2_ENST00000379104.2_Missense_Mutation_p.H430R|P4HA2_ENST00000379086.1_Missense_Mutation_p.H430R|P4HA2_ENST00000166534.4_Missense_Mutation_p.H430R|P4HA2_ENST00000379100.2_Missense_Mutation_p.H430R			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	430	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GAAGTCGAAGTGCGGTTCATA	0.483																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1288-1290)cAc>cGc		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						132.0	112.0	119.0					5																	131534588		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131534588T>C	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1289A>G	5.37:g.131534588T>C	ENSP00000384999:p.His430Arg					P4HA2_ENST00000379100.2_Missense_Mutation_p.H430R|P4HA2_ENST00000166534.4_Missense_Mutation_p.H430R|P4HA2_ENST00000379086.1_Missense_Mutation_p.H430R|P4HA2_ENST00000379104.2_Missense_Mutation_p.H430R|P4HA2_ENST00000360568.3_Missense_Mutation_p.H430R	p.H430R			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1857	-		all_cancers(142;0.103)|Breast(839;0.198)	430			Fe2OG dioxygenase.		D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.1289A>G	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858688	0.71834	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	D;D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47;-4.47	6.07	6.07	0.98685	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98794	1.0737	10	0.87932	D	0	0.3111	16.6407	0.85098	0.0:0.0:0.0:1.0	.	430;430	O15460;O15460-2	P4HA2_HUMAN;.	R	430	ENSP00000384999:H430R;ENSP00000368379:H430R;ENSP00000166534:H430R;ENSP00000353772:H430R;ENSP00000368398:H430R;ENSP00000368394:H430R	ENSP00000166534:H430R	H	-	2	0	P4HA2	131562487	1.000000	0.71417	0.997000	0.53966	0.463000	0.32649	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	CAC		0.483	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		4	78	0	0	0	1	0	4	78				
LBR	3930	broad.mit.edu	37	1	225611758	225611758	+	Missense_Mutation	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr1:225611758G>A	ENST00000338179.2	-	2	145	c.20C>T	c.(19-21)gCc>gTc	p.A7V	LBR_ENST00000272163.4_Missense_Mutation_p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	7	Tudor.				cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTCACCATCGGCAAATTTCCT	0.373																																						ENST00000338179.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(19-21)gCc>gTc		lamin B receptor							229.0	252.0	245.0					1																	225611758		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225611758G>A	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.20C>T	1.37:g.225611758G>A	ENSP00000339883:p.Ala7Val					LBR_ENST00000272163.4_Missense_Mutation_p.A7V	p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	2	145	-	Breast(184;0.165)		7			Nucleoplasmic (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.20C>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112372	0.56398	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080;ENST00000421383	D;D;T	0.97041	-4.22;-4.22;0.44	5.51	4.58	0.56647	Lamin-B receptor of TUDOR domain (1);Tudor domain (1);	0.361768	0.29145	N	0.013017	D	0.93138	0.7815	N	0.19112	0.55	0.33255	D	0.558951	B;B	0.24258	0.1;0.02	B;B	0.28916	0.096;0.017	D	0.92783	0.6242	10	0.35671	T	0.21	-12.0216	12.7545	0.57325	0.0778:0.0:0.9222:0.0	.	7;7	C9JXK0;Q14739	.;LBR_HUMAN	V	7	ENSP00000272163:A7V;ENSP00000339883:A7V;ENSP00000388059:A7V	ENSP00000272163:A7V	A	-	2	0	LBR	223678381	0.999000	0.42202	0.893000	0.35052	0.970000	0.65996	3.148000	0.50647	1.285000	0.44548	0.655000	0.94253	GCC		0.373	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		6	625	0	0	0	1	0	6	625				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	99	0	0	0	1	0	8	99				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	67	0	0	0	1	0	4	67				
NUP188	23511	broad.mit.edu	37	9	131767807	131767807	+	Missense_Mutation	SNP	C	C	G			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr9:131767807C>G	ENST00000372577.2	+	40	4756	c.4735C>G	c.(4735-4737)Cag>Gag	p.Q1579E	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1579					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTGCTGGATCAGGTACTGCC	0.577																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(4735-4737)Cag>Gag		nucleoporin 188kDa							103.0	99.0	100.0					9																	131767807		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131767807C>G	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4735C>G	9.37:g.131767807C>G	ENSP00000361658:p.Gln1579Glu						p.Q1579E	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			40	4756	+			1579					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.4735C>G	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520659	0.27211	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32515	1.45	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	L	0.48362	1.52	0.80722	D	1	B	0.26002	0.139	B	0.24701	0.055	T	0.08638	-1.0712	10	0.07813	T	0.8	-36.17	18.0037	0.89203	0.0:1.0:0.0:0.0	.	1579	Q5SRE5	NU188_HUMAN	E	1468;1579	ENSP00000361658:Q1579E	ENSP00000349125:Q1468E	Q	+	1	0	NUP188	130807628	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	7.237000	0.78164	2.482000	0.83794	0.561000	0.74099	CAG		0.577	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			4	220	0	0	0	1	0	4	220				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs62464331		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732									GTF2I repeat domain containing 2 pseudogene 1																		cagagtgatttcggatgaatt	0.507																																						ENST00000425256.1																			0																																																			401375							g.chr7:72658179T>C	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658179T>C								NR_002164.1						0	1732	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	129	0	0	0	1	0	4	129				
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						ENST00000388718.5																			1	Deletion - Frameshift(1)	p.H1901fs*30(1)	large_intestine(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5701-5706)cagcfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.HS1901fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5775_5776	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	502						7	502	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-	rs143136196|rs376331360|rs189081489|rs539310988	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			1	Deletion - In frame(1)	p.E716delE(1)	liver(1)	NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2146-2151)gct>g		protein tyrosine phosphatase, non-receptor type 14																																				SO:0001651	inframe_deletion	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557049_214557051delCCT	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2147_2149delAGG	1.37:g.214557058_214557060delCCT	ENSP00000355923:p.Glu716del					PTPN14_ENST00000543945.1_3'UTR	p.EA716del	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2341_2343	-			716			Poly-Glu.		Q5VSI0	In_Frame_Del	DEL	ENST00000366956.5	37	c.2147_2149delAGG	CCDS1514.1																																																																																				0.626	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		7	100						7	100	---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197531519	197531519	+	Frame_Shift_Del	DEL	A	A	-	rs75642251|rs376590781		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr2:197531519delA	ENST00000389175.4	+	7	974	c.839delA	c.(838-840)caafs	p.Q280fs	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	280										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCCAGGAACAAAAAAAAAAA	0.373																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(838-840)cafs		coiled-coil domain containing 150				178,205,3109		1,0,176,1,203,1365	43.0	43.0	43.0			4.6	0.7	2		34	430,361,7013		2,0,426,2,357,3115	no	codingComplex	CCDC150	NM_001080539.1		3,0,602,3,560,4480	A1A1,A1A2,A1R,A2A2,A2R,RR		10.1358,10.9679,10.3931			197531519	608,566,10122	1807	4072	5879	SO:0001589	frameshift_variant	284992							g.chr2:197531519delA		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.839delA	2.37:g.197531519delA	ENSP00000373827:p.Gln280fs					CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000472405.2_Intron	p.Q280fs	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			7	974	+			280					Q6P5U6|Q6P663|Q8N8V5	Frame_Shift_Del	DEL	ENST00000389175.4	37	c.839delA	CCDS46478.1																																																																																				0.373	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		7	42						7	42	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	AA	rs56394515|rs574346914	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:66321927_66321928insAA	ENST00000502692.1	+	0	714				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.54																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)																																						89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321927_66321928insAA	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321936_66321937dupAA						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	566	+								A6NP77|Q4KKV2	RNA	INS	ENST00000502692.1	37																																																																																						0.540	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		3	4						3	4	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aacaag>aag	p.N168del	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	168	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(502-507)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546506_11546508delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.504_506delCAA	12.37:g.11546509_11546511delTTG	ENSP00000374013:p.Asn168del					PRB1_ENST00000546254.1_Intron	p.NK168del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	539_541	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.504_506delCAA	CCDS41757.2																																																																																				0.596	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		9	667						9	667	---	---	---	---
VPS36	51028	broad.mit.edu	37	13	52990060	52990061	+	Splice_Site	INS	-	-	A	rs199969103	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr13:52990060_52990061insA	ENST00000378060.4	-	14	1095		c.e14-2			NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)						endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AGCAGCAACCTAAAAAAAAACA	0.396													?|AAAAAAAAA|AAAAAAAAAA|unsure	36	0.0071885	0.0265	0.0014	5008	,	,		22003	0.0		0.0	False		,,,				2504	0.0					ENST00000378060.4																			1	Unknown(1)	p.?(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.e14-2		vacuolar protein sorting 36 homolog (S. cerevisiae)																																				SO:0001630	splice_region_variant	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:52990060_52990061insA	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.1068-2->T	13.37:g.52990069_52990069dupA								NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	14	1095	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)						A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Splice_Site	INS	ENST00000378060.4	37		CCDS9434.1																																																																																				0.396	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3		Intron	9	247						9	247	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29556251	29556252	+	Frame_Shift_Ins	INS	-	-	T			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr17:29556251_29556252insT	ENST00000358273.4	+	21	3001_3002	c.2618_2619insT	c.(2617-2622)cgtaagfs	p.K874fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.K874fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	874					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTCAGTGAACGTAAGGGTTCTA	0.5			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2617-2619)caafs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556251_29556252insT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2619dupT	17.37:g.29556252_29556252dupT	ENSP00000351015:p.Lys874fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.Q873fs	p.Q873fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	3001_3002	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	873		R -> C (in NF1).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.2618_2619insT	CCDS42292.1																																																																																				0.500	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		83	34						83	34	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)cagcaa>caa	p.1030_1031QQ>Q	NCOA6_ENST00000359003.2_In_Frame_Del_p.1030_1031QQ>Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-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)			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						CATCATTtgttgctgctgctgct	0.576																																						ENST00000374796.2																			0				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.(3088-3093)caa>ca		nuclear receptor coactivator 6																																				SO:0001651	inframe_deletion	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.chr20:33330968_33330970delTGC	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.3090_3092delGCA	20.37:g.33330977_33330979delTGC	ENSP00000363929:p.Gln1032del					NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del	p.QQ1030del			Q14686	NCOA6_HUMAN			12	5660_5662	-			1030			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	In_Frame_Del	DEL	ENST00000374796.2	37	c.3090_3092delGCA	CCDS13241.1																																																																																				0.576	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		8	189						8	189	---	---	---	---
