#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
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	0							g.chr20:29625961C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	417	1	0	1.5739e-10	1	1.66014e-10	10	417				
SLC7A9	11136	broad.mit.edu	37	19	33334838	33334838	+	Missense_Mutation	SNP	G	G	A	rs121908484		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:33334838G>A	ENST00000023064.4	-	10	1188	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	SLC7A9_ENST00000587772.1_Missense_Mutation_p.R333W|SLC7A9_ENST00000590341.1_Missense_Mutation_p.R333W	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	333			R -> W (in CSNU; frequent mutation; severe loss of amino acid transport activity). {ECO:0000269|PubMed:11157794}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TGACCCTCCCGGCCCGCCACG	0.567																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	GRCh37	CM010449	SLC7A9	M	rs121908484	c.(997-999)Cgg>Tgg		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)	G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	54.0	55.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	997,997	3.2	1.0	19	dbSNP_133	55	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SLC7A9	NM_001126335.1,NM_014270.4	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	333/488,333/488	33334838	2,13004	2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33334838G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.997C>T	19.37:g.33334838G>A	ENSP00000023064:p.Arg333Trp					SLC7A9_ENST00000590341.1_Missense_Mutation_p.R333W|SLC7A9_ENST00000587772.1_Missense_Mutation_p.R333W	p.R333W	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			10	1188	-	Esophageal squamous(110;0.137)		333		R -> W (in CSNU; frequent mutation; severe loss of amino acid transport activity).			B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.997C>T	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484195	0.63962	2.27E-4	1.16E-4	ENSG00000021488	ENST00000023064	D	0.91792	-2.91	5.37	3.17	0.36434	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96806	0.8957	M	0.93808	3.46	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98100	1.0414	9	0.87932	D	0	.	13.9854	0.64331	0.0:0.0:0.7234:0.2766	.	333;333	Q53FY4;P82251	.;BAT1_HUMAN	W	333	ENSP00000023064:R333W	ENSP00000023064:R333W	R	-	1	2	SLC7A9	38026678	1.000000	0.71417	0.997000	0.53966	0.663000	0.39108	3.879000	0.56138	0.597000	0.29811	-0.182000	0.12963	CGG		0.567	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			5	198	0	0	0	1	0	5	198				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	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		6	164	0	0	0	1	0	6	164				
ROBO2	6092	broad.mit.edu	37	3	77600066	77600066	+	Missense_Mutation	SNP	C	C	T	rs199705591		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:77600066C>T	ENST00000461745.1	+	8	2057	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	ROBO2_ENST00000332191.8_Missense_Mutation_p.A386V|ROBO2_ENST00000487694.3_Missense_Mutation_p.A402V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	386	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGTTCCGACGCGGGTTACTAC	0.473																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1156-1158)gCg>gTg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							79.0	78.0	78.0					3																	77600066		1933	4145	6078	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77600066C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1157C>T	3.37:g.77600066C>T	ENSP00000417164:p.Ala386Val					ROBO2_ENST00000487694.3_Missense_Mutation_p.A402V|ROBO2_ENST00000332191.8_Missense_Mutation_p.A386V	p.A386V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	8	2057	+			386			Ig-like C2-type 4.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1157C>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406025	0.42715	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.68479	-0.33;-0.33;-0.33	5.49	4.55	0.56014	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000351	T	0.75072	0.3800	L	0.50919	1.6	0.39718	D	0.971425	D;D;D	0.69078	0.995;0.997;0.995	D;D;D	0.67231	0.938;0.942;0.95	T	0.72398	-0.4306	9	0.26408	T	0.33	.	16.0733	0.80951	0.0:0.866:0.134:0.0	.	402;386;386	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	V	402;402;406;386;386;107	ENSP00000417335:A402V;ENSP00000417164:A386V;ENSP00000327536:A386V	ENSP00000327536:A386V	A	+	2	0	ROBO2	77682756	1.000000	0.71417	0.225000	0.23894	0.113000	0.19764	6.001000	0.70685	2.742000	0.94016	0.591000	0.81541	GCG		0.473	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		15	278	0	0	0	1	0	15	278				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000355232.3_Splice_Site_p.H157R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	12	191	0	0	0	1	0	12	191				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			6	309	0	0	0	1	0	6	309				
ATP6V0A4	50617	broad.mit.edu	37	7	138434008	138434008	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:138434008C>A	ENST00000310018.2	-	12	1366	c.1084G>T	c.(1084-1086)Gcc>Tcc	p.A362S	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A362S|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A362S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	362					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGGAGGGGCTGTTTTAGAT	0.453																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1084-1086)Gcc>Tcc		ATPase, H+ transporting, lysosomal V0 subunit a4							104.0	105.0	105.0					7																	138434008		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138434008C>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1084G>T	7.37:g.138434008C>A	ENSP00000308122:p.Ala362Ser					ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A362S|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A362S	p.A362S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			12	1366	-			362					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.1084G>T	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	5.791	0.330340	0.10956	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.85629	-2.01;-2.01;-2.01	5.13	4.04	0.47022	.	0.458554	0.21405	N	0.075080	T	0.76572	0.4006	N	0.20445	0.575	0.29415	N	0.860951	B	0.28584	0.216	B	0.34038	0.174	T	0.69412	-0.5152	10	0.25751	T	0.34	-4.7235	14.5017	0.67727	0.0:0.9161:0.0:0.0839	.	362	Q9HBG4	VPP4_HUMAN	S	362	ENSP00000308122:A362S;ENSP00000376774:A362S;ENSP00000253856:A362S	ENSP00000308122:A362S	A	-	1	0	ATP6V0A4	138084548	0.985000	0.35326	0.722000	0.30670	0.078000	0.17371	0.936000	0.28938	2.398000	0.81561	0.561000	0.74099	GCC		0.453	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		9	514	1	0	1.58986e-06	1	1.64322e-06	9	514				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						ENST00000436493.2																			0																																																			0							g.chr5:1593264C>T																													5.37:g.1593264C>T														0	361	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			13	188	0	0	0	1	0	13	188				
RELN	5649	broad.mit.edu	37	7	103474008	103474008	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:103474008G>A	ENST00000428762.1	-	3	608	c.449C>T	c.(448-450)gCg>gTg	p.A150V	RELN_ENST00000343529.5_Missense_Mutation_p.A150V|RELN_ENST00000424685.2_Missense_Mutation_p.A150V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	150	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCTGTGCCCGCAGGTGGAGC	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(448-450)gCg>gTg		reelin							108.0	98.0	101.0					7																	103474008		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103474008G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.449C>T	7.37:g.103474008G>A	ENSP00000392423:p.Ala150Val					RELN_ENST00000343529.5_Missense_Mutation_p.A150V|RELN_ENST00000424685.2_Missense_Mutation_p.A150V	p.A150V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	3	608	-			150			Reelin.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.449C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172734	0.78452	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.28454	1.61;1.61;1.61	5.33	5.33	0.75918	Reeler domain (2);	0.060775	0.64402	D	0.000002	T	0.31513	0.0799	N	0.14661	0.345	0.54753	D	0.999989	D;D	0.56035	0.968;0.974	P;P	0.50708	0.516;0.648	T	0.19549	-1.0302	10	0.72032	D	0.01	.	19.3931	0.94592	0.0:0.0:1.0:0.0	.	150;150	P78509-2;P78509	.;RELN_HUMAN	V	150	ENSP00000392423:A150V;ENSP00000345694:A150V;ENSP00000388446:A150V	ENSP00000345694:A150V	A	-	2	0	RELN	103261244	1.000000	0.71417	0.875000	0.34327	0.980000	0.70556	5.819000	0.69243	2.634000	0.89283	0.650000	0.86243	GCG		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		13	248	0	0	0	1	0	13	248				
FAM71B	153745	broad.mit.edu	37	5	156592698	156592698	+	Missense_Mutation	SNP	C	C	A	rs146865558		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr5:156592698C>A	ENST00000302938.4	-	1	577	c.482G>T	c.(481-483)cGg>cTg	p.R161L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	161						nucleus (GO:0005634)		p.R161L(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGATCTTCCCGTGTGTCAGA	0.498																																						ENST00000302938.4																			1	Substitution - Missense(1)	p.R161L(1)	lung(1)	NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(481-483)cGg>cTg		family with sequence similarity 71, member B							129.0	132.0	131.0					5																	156592698		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592698C>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.482G>T	5.37:g.156592698C>A	ENSP00000305596:p.Arg161Leu						p.R161L	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	577	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	161					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.482G>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.888978	0.52014	.	.	ENSG00000170613	ENST00000302938	T	0.17054	2.3	4.56	4.56	0.56223	.	0.345278	0.24813	N	0.035395	T	0.36853	0.0982	M	0.62154	1.92	0.09310	N	1	D	0.65815	0.995	D	0.69479	0.964	T	0.06807	-1.0806	10	0.54805	T	0.06	-3.8761	13.5619	0.61795	0.0:1.0:0.0:0.0	.	161	Q8TC56	FA71B_HUMAN	L	161	ENSP00000305596:R161L	ENSP00000305596:R161L	R	-	2	0	FAM71B	156525276	0.027000	0.19231	0.010000	0.14722	0.624000	0.37722	1.032000	0.30178	2.469000	0.83416	0.655000	0.94253	CGG		0.498	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		14	587	1	0	1.15088e-07	1	1.20568e-07	14	587				
OR52M1	119772	broad.mit.edu	37	11	4566917	4566917	+	Missense_Mutation	SNP	G	G	A	rs529200501		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:4566917G>A	ENST00000360213.1	+	1	497	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATGATCCGCCTGCGGCTG	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18716	0.0		0.0	False		,,,				2504	0.0					ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(496-498)cGc>cAc		olfactory receptor, family 52, subfamily M, member 1							102.0	103.0	103.0					11																	4566917		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566917G>A	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.497G>A	11.37:g.4566917G>A	ENSP00000353343:p.Arg166His						p.R166H	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	497	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	166						Missense_Mutation	SNP	ENST00000360213.1	37	c.497G>A	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315172	0.23908	.	.	ENSG00000197790	ENST00000360213	T	0.00137	8.68	4.98	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.142760	0.32593	N	0.005884	T	0.00144	0.0004	L	0.55834	1.745	0.09310	N	0.999994	B	0.17852	0.024	B	0.16722	0.016	T	0.40979	-0.9534	10	0.62326	D	0.03	.	4.9553	0.14036	0.3208:0.143:0.5362:0.0	.	166	Q8NGK5	O52M1_HUMAN	H	166	ENSP00000353343:R166H	ENSP00000353343:R166H	R	+	2	0	OR52M1	4523493	0.000000	0.05858	0.122000	0.21767	0.864000	0.49448	-1.025000	0.03600	0.389000	0.25086	-0.133000	0.14855	CGC		0.522	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		11	423	0	0	0	1	0	11	423				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	0							g.chr20:29628299A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		11	389	0	0	0	1	0	11	389				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	7	336	0	0	0	1	0	7	336				
PRG4	10216	broad.mit.edu	37	1	186276168	186276168	+	Silent	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:186276168C>T	ENST00000445192.2	+	7	1362	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T398T|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367486.3_Silent_p.T396T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	439	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGAAGC	0.657																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1315-1317)acC>acT		proteoglycan 4							77.0	84.0	82.0					1																	186276168		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276168C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1317C>T	1.37:g.186276168C>T						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T398T|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367486.3_Silent_p.T396T	p.T439T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1362	+			439			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1317C>T	CCDS1369.1																																																																																				0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	391	0	0	0	1	0	7	391				
CDC27	996	broad.mit.edu	37	17	45234625	45234625	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:45234625C>T	ENST00000066544.3	-	6	694	c.601G>A	c.(601-603)Gtt>Att	p.V201I	CDC27_ENST00000527547.1_Missense_Mutation_p.V201I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.V140I|CDC27_ENST00000531206.1_Missense_Mutation_p.V201I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V201I(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCCGTAAGAACTGTCTCAGGC	0.338																																						ENST00000066544.3																			2	Substitution - Missense(2)	p.V201I(2)	kidney(2)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(601-603)Gtt>Att		cell division cycle 27							58.0	59.0	59.0					17																	45234625		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234625C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.601G>A	17.37:g.45234625C>T	ENSP00000066544:p.Val201Ile					CDC27_ENST00000446365.2_Missense_Mutation_p.V140I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.V201I|CDC27_ENST00000527547.1_Missense_Mutation_p.V201I	p.V201I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			6	694	-			201					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.601G>A	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164668	0.38217	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.23;0.02;-0.25;0.85	5.11	5.11	0.69529	.	0.065071	0.64402	D	0.000010	T	0.52805	0.1757	N	0.24115	0.695	0.53688	D	0.999973	B;B;B;B	0.22211	0.031;0.053;0.066;0.031	B;B;B;B	0.20577	0.024;0.022;0.03;0.01	T	0.47923	-0.9079	10	0.22109	T	0.4	-10.941	16.0383	0.80645	0.0:1.0:0.0:0.0	.	140;201;201;201	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	I	201;201;140;201;201	ENSP00000066544:V201I;ENSP00000434614:V201I;ENSP00000392802:V140I;ENSP00000437339:V201I;ENSP00000432105:V201I	ENSP00000066544:V201I	V	-	1	0	CDC27	42589624	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.951000	0.75983	2.391000	0.81399	0.557000	0.71058	GTT		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			6	233	0	0	0	1	0	6	233				
COL6A2	1292	broad.mit.edu	37	21	47549129	47549129	+	Intron	SNP	C	C	T	rs537764742		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:47549129C>T	ENST00000300527.4	+	27	2565				COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000397763.1_Silent_p.G827G|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000357838.4_Silent_p.G827G	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGCCTGGCGGCGAGCCCCCGG	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14220	0.0		0.0	False		,,,				2504	0.0					ENST00000357838.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2479-2481)ggC>ggT		collagen, type VI, alpha 2							55.0	60.0	59.0					21																	47549129		2201	4299	6500	SO:0001627	intron_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47549129C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2461+2674C>T	21.37:g.47549129C>T						COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000397763.1_Silent_p.G827G	p.G827G	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2563	+	Breast(49;0.245)		564			Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.2481C>T	CCDS13728.1																																																																																				0.672	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			9	494	0	0	0	1	0	9	494				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		12	315	0	0	0	1	0	12	315				
FAM86C2P	645332	broad.mit.edu	37	11	67564228	67564228	+	RNA	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:67564228C>T	ENST00000528089.1	-	0	912							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		GAGGAGCCCGCTGGTGCTCCC	0.627																																						ENST00000528089.1																			0																																																			0							g.chr11:67564228C>T			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67564228C>T														0	912	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.627	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			5	259	0	0	0	1	0	5	259				
CENPI	2491	broad.mit.edu	37	X	100357364	100357364	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:100357364G>T	ENST00000372927.1	+	3	605	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	CENPI_ENST00000372926.1_Missense_Mutation_p.D110Y|CENPI_ENST00000218507.5_Missense_Mutation_p.D110Y|CENPI_ENST00000423383.1_Missense_Mutation_p.D110Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	110					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGAAGAAATTGATATTCTATT	0.313																																						ENST00000372927.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(328-330)Gat>Tat		centromere protein I							105.0	110.0	109.0					X																	100357364		2203	4299	6502	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100357364G>T	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.328G>T	X.37:g.100357364G>T	ENSP00000362018:p.Asp110Tyr					CENPI_ENST00000218507.5_Missense_Mutation_p.D110Y|CENPI_ENST00000423383.1_Missense_Mutation_p.D110Y|CENPI_ENST00000372926.1_Missense_Mutation_p.D110Y	p.D110Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			3	605	+			110					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.328G>T	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375305	0.42105	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.17	5.17	0.71159	.	0.166479	0.56097	D	0.000022	T	0.72145	0.3424	M	0.73598	2.24	0.41511	D	0.988343	P;P	0.36144	0.539;0.539	P;P	0.48704	0.587;0.587	T	0.74780	-0.3549	9	0.54805	T	0.06	-13.5932	12.7388	0.57239	0.0:0.1604:0.8396:0.0	.	110;110	B4DZL4;Q92674	.;CENPI_HUMAN	Y	110	.	ENSP00000218507:D110Y	D	+	1	0	CENPI	100244020	0.915000	0.31059	1.000000	0.80357	0.481000	0.33189	2.439000	0.44846	2.276000	0.75962	0.538000	0.68166	GAT		0.313	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		8	388	1	0	0.000157383	1	0.00016051	8	388				
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.C595Y(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1783-1785)tGt>tAt		nuclear factor, erythroid 2-like 3							61.0	58.0	59.0					7																	26225102		2203	4299	6502	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225102G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1784G>A	7.37:g.26225102G>A	ENSP00000056233:p.Cys595Tyr						p.C595Y	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2043	+			595					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1784G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483904	0.84854	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.92858	-3.12	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-5.5783	19.4639	0.94931	0.0:0.0:1.0:0.0	.	595	Q9Y4A8	NF2L3_HUMAN	Y	595;300	ENSP00000056233:C595Y	ENSP00000056233:C595Y	C	+	2	0	NFE2L3	26191627	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.984000	0.88150	2.703000	0.92315	0.591000	0.81541	TGT		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			7	257	0	0	0	1	0	7	257				
KCNH5	27133	broad.mit.edu	37	14	63269191	63269191	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:63269191G>A	ENST00000322893.7	-	9	1946	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCAAGGCGCGCAGACACCCA	0.512																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1678-1680)Cgc>Tgc		potassium voltage-gated channel, subfamily H (eag-related), member 5							82.0	77.0	79.0					14																	63269191		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269191G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1678C>T	14.37:g.63269191G>A	ENSP00000321427:p.Arg560Cys					KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C|KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C	p.R560C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1946	-			560					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1678C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948501	0.73787	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96940	-4.18;-4.18;-4.18	5.13	4.22	0.49857	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.91038	3.17	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	0.99564	1.0969	10	0.87932	D	0	.	15.7242	0.77740	0.0:0.1373:0.8627:0.0	.	502;560;560	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	C	560;560;502	ENSP00000321427:R560C;ENSP00000395439:R560C;ENSP00000378419:R502C	ENSP00000321427:R560C	R	-	1	0	KCNH5	62338944	1.000000	0.71417	0.977000	0.42913	0.897000	0.52465	5.628000	0.67791	1.265000	0.44215	0.563000	0.77884	CGC		0.512	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		13	338	0	0	0	1	0	13	338				
MED12L	116931	broad.mit.edu	37	3	151082925	151082925	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:151082925C>T	ENST00000474524.1	+	20	3049	c.3011C>T	c.(3010-3012)gCg>gTg	p.A1004V	MED12L_ENST00000273432.4_Missense_Mutation_p.A864V|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1004						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGACAATGCGGCCAATCGC	0.473																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(3010-3012)gCg>gTg		mediator complex subunit 12-like							208.0	197.0	201.0					3																	151082925		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151082925C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3011C>T	3.37:g.151082925C>T	ENSP00000417235:p.Ala1004Val					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A864V	p.A1004V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		20	3049	+			1004					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.3011C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446722	0.84101	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.77098	-1.07;-1.07	5.6	5.6	0.85130	.	0.171136	0.52532	D	0.000067	T	0.68952	0.3057	N	0.24115	0.695	0.80722	D	1	P;D;D	0.57571	0.87;0.976;0.98	B;B;B	0.41723	0.358;0.211;0.365	T	0.72849	-0.4168	10	0.49607	T	0.09	-19.482	19.5844	0.95485	0.0:1.0:0.0:0.0	.	864;1003;1004	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	V	1004;864	ENSP00000417235:A1004V;ENSP00000273432:A864V	ENSP00000273432:A864V	A	+	2	0	MED12L	152565615	0.998000	0.40836	0.755000	0.31263	0.995000	0.86356	5.463000	0.66712	2.786000	0.95864	0.650000	0.86243	GCG		0.473	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	781	0	0	0	1	0	7	781				
TEP1	7011	broad.mit.edu	37	14	20858856	20858856	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:20858856G>A	ENST00000262715.5	-	15	2358	c.2318C>T	c.(2317-2319)gCt>gTt	p.A773V	TEP1_ENST00000556935.1_Missense_Mutation_p.A665V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	773					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTTTGGCCAGCCAGAGACAG	0.438																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(2317-2319)gCt>gTt		telomerase-associated protein 1							88.0	82.0	84.0					14																	20858856		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20858856G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2318C>T	14.37:g.20858856G>A	ENSP00000262715:p.Ala773Val					TEP1_ENST00000556935.1_Missense_Mutation_p.A665V	p.A773V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	15	2358	-	all_cancers(95;0.00123)	all_lung(585;0.235)	773					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2318C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	4.876	0.162909	0.09287	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.44482	0.96;0.92	4.98	4.09	0.47781	.	0.560122	0.19177	N	0.120783	T	0.28928	0.0718	L	0.45137	1.4	0.80722	D	1	B;B;B	0.20261	0.043;0.008;0.025	B;B;B	0.18263	0.021;0.01;0.009	T	0.04855	-1.0922	10	0.07175	T	0.84	-3.4708	8.5875	0.33666	0.1009:0.0:0.8991:0.0	.	665;123;773	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	V	773;773;665	ENSP00000262715:A773V;ENSP00000452574:A665V	ENSP00000262715:A773V	A	-	2	0	TEP1	19928696	0.995000	0.38212	0.997000	0.53966	0.950000	0.60333	2.649000	0.46656	2.756000	0.94617	0.655000	0.94253	GCT		0.438	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		5	234	0	0	0	1	0	5	234				
BRWD3	254065	broad.mit.edu	37	X	79971738	79971738	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:79971738T>A	ENST00000373275.4	-	20	2459	c.2243A>T	c.(2242-2244)gAa>gTa	p.E748V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	748					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGTTCGACATTCTTCCTGTAC	0.299																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(2242-2244)gAa>gTa		bromodomain and WD repeat domain containing 3							148.0	127.0	134.0					X																	79971738		2202	4298	6500	SO:0001583	missense	254065							g.chrX:79971738T>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2243A>T	X.37:g.79971738T>A	ENSP00000362372:p.Glu748Val					BRWD3_ENST00000473691.1_5'UTR	p.E748V	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			20	2459	-			748					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.2243A>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715517	0.48622	.	.	ENSG00000165288	ENST00000373275	T	0.32515	1.45	5.17	5.17	0.71159	.	0.046697	0.85682	D	0.000000	T	0.36331	0.0963	M	0.74258	2.255	0.48762	D	0.999702	B	0.27068	0.167	B	0.29598	0.104	T	0.15636	-1.0430	9	.	.	.	-9.7094	14.1257	0.65219	0.0:0.0:0.0:1.0	.	748	Q6RI45	BRWD3_HUMAN	V	748	ENSP00000362372:E748V	.	E	-	2	0	BRWD3	79858394	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.488000	0.60300	1.910000	0.55303	0.441000	0.28932	GAA		0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		15	177	0	0	0	1	0	15	177				
CYB561	1534	broad.mit.edu	37	17	61513435	61513435	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:61513435G>A	ENST00000392976.1	-	3	580	c.281C>T	c.(280-282)gCg>gTg	p.A94V	CYB561_ENST00000448884.2_Missense_Mutation_p.A94V|CYB561_ENST00000582997.1_Missense_Mutation_p.A101V|CYB561_ENST00000581573.1_Missense_Mutation_p.A94V|CYB561_ENST00000584031.1_Missense_Mutation_p.A94V|CYB561_ENST00000582297.1_Missense_Mutation_p.A94V|CYB561_ENST00000542042.1_Missense_Mutation_p.A161V|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000360793.3_Missense_Mutation_p.A94V|CYB561_ENST00000582034.1_Missense_Mutation_p.A65V|CYB561_ENST00000392975.2_Missense_Mutation_p.A94V	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	94	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GATGACGAGCGCAAAGATGTG	0.612																																						ENST00000584031.1																			0				lung(2)|ovary(1)|prostate(1)	4						c.(280-282)gCg>gTg		cytochrome b561							141.0	118.0	126.0					17																	61513435		2203	4300	6503	SO:0001583	missense	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61513435G>A		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.281C>T	17.37:g.61513435G>A	ENSP00000376702:p.Ala94Val					CYB561_ENST00000448884.2_Missense_Mutation_p.A94V|CYB561_ENST00000582997.1_Missense_Mutation_p.A101V|CYB561_ENST00000392976.1_Missense_Mutation_p.A94V|CYB561_ENST00000582034.1_Missense_Mutation_p.A65V|CYB561_ENST00000581573.1_Missense_Mutation_p.A94V|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000360793.3_Missense_Mutation_p.A94V|CYB561_ENST00000392975.2_Missense_Mutation_p.A94V|CYB561_ENST00000582297.1_Missense_Mutation_p.A94V|CYB561_ENST00000542042.1_Missense_Mutation_p.A161V	p.A94V			P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	3	580	-			94			Cytochrome b561.		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	ENST00000392976.1	37	c.281C>T	CCDS11636.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431165	0.25726	.	.	ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000448884;ENST00000542042	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.34	4.34	0.51931	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.055735	0.64402	D	0.000001	T	0.71500	0.3347	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.998;0.984	P;D;P;P	0.91635	0.893;0.999;0.827;0.68	T	0.74702	-0.3576	10	0.54805	T	0.06	-16.3975	13.7194	0.62717	0.0:0.0:1.0:0.0	.	94;94;161;94	B7Z775;B3KTA1;F5H757;P49447	.;.;.;CY561_HUMAN	V	94;94;94;94;161	ENSP00000354028:A94V;ENSP00000376702:A94V;ENSP00000376701:A94V;ENSP00000400350:A94V;ENSP00000442773:A161V	ENSP00000354028:A94V	A	-	2	0	CYB561	58867167	1.000000	0.71417	0.095000	0.20976	0.024000	0.10985	7.913000	0.87471	2.244000	0.73946	0.561000	0.74099	GCG		0.612	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		5	298	0	0	0	1	0	5	298				
WWC3	55841	broad.mit.edu	37	X	10102530	10102530	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:10102530A>G	ENST00000380861.4	+	19	3048	c.2657A>G	c.(2656-2658)aAg>aGg	p.K886R	WWC3_ENST00000454666.1_Missense_Mutation_p.K886R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	886					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCCTCGTGAAGGAGCGGCCC	0.547																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(2656-2658)aAg>aGg		WWC family member 3							103.0	108.0	106.0					X																	10102530		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10102530A>G	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2657A>G	X.37:g.10102530A>G	ENSP00000370242:p.Lys886Arg					WWC3_ENST00000454666.1_Missense_Mutation_p.K886R	p.K886R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			19	3048	+			886					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.2657A>G	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002383	0.74932	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.58060	0.36;0.36	5.71	5.71	0.89125	.	0.089123	0.85682	D	0.000000	T	0.66723	0.2818	M	0.86651	2.83	0.54753	D	0.999982	P	0.47106	0.89	P	0.48304	0.573	T	0.72646	-0.4230	9	.	.	.	-38.9372	15.0307	0.71705	1.0:0.0:0.0:0.0	.	886	Q9ULE0	WWC3_HUMAN	R	886;886;381	ENSP00000370242:K886R;ENSP00000399584:K886R	.	K	+	2	0	WWC3	10062530	1.000000	0.71417	0.957000	0.39632	0.066000	0.16364	8.837000	0.92110	1.932000	0.55993	0.425000	0.28330	AAG		0.547	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		45	367	0	0	0	1	0	45	367				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		11	313	0	0	0	1	0	11	313				
SDHAP3	728609	broad.mit.edu	37	5	1593261	1593261	+	lincRNA	SNP	A	A	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr5:1593261A>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTCAGGGCACATGCCTGACCA	0.542																																						ENST00000436493.2																			0																																																			0							g.chr5:1593261A>T																													5.37:g.1593261A>T														0	364	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.542	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			14	182	0	0	0	1	0	14	182				
MBNL2	10150	broad.mit.edu	37	13	97999092	97999092	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr13:97999092G>A	ENST00000376673.3	+	5	1356	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	MBNL2_ENST00000397601.1_Missense_Mutation_p.R192Q|MBNL2_ENST00000345429.6_Missense_Mutation_p.R192Q|MBNL2_ENST00000343600.4_Missense_Mutation_p.R192Q|MBNL2_ENST00000445661.2_Intron			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	192					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AACTGTGCCCGGGGAGAGACC	0.607																																						ENST00000345429.6																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(574-576)cGg>cAg		muscleblind-like splicing regulator 2							70.0	65.0	67.0					13																	97999092		2203	4300	6503	SO:0001583	missense	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97999092G>A	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.575G>A	13.37:g.97999092G>A	ENSP00000365861:p.Arg192Gln					MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000343600.4_Missense_Mutation_p.R192Q|MBNL2_ENST00000376673.3_Missense_Mutation_p.R192Q|MBNL2_ENST00000397601.1_Missense_Mutation_p.R192Q	p.R192Q	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		5	1356	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		192					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	ENST00000376673.3	37	c.575G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.122025	0.97300	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.95	5.95	0.96441	Zinc finger, CCCH-type (3);	0.053503	0.85682	D	0.000000	T	0.77308	0.4111	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.997	D;D;P	0.78314	0.991;0.92;0.898	T	0.81185	-0.1048	10	0.87932	D	0	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	192;192;192	Q5VZF2;A2A3S3;Q5VZF2-2	MBNL2_HUMAN;.;.	Q	192	ENSP00000380726:R192Q;ENSP00000344214:R192Q;ENSP00000267287:R192Q;ENSP00000365861:R192Q	ENSP00000344214:R192Q	R	+	2	0	MBNL2	96797093	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.854000	0.99522	2.827000	0.97445	0.650000	0.86243	CGG		0.607	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		11	201	0	0	0	1	0	11	201				
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37.0	35.0	35.0					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	156	0	0	0	1	0	4	156				
ZNF563	147837	broad.mit.edu	37	19	12429760	12429760	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:12429760G>C	ENST00000293725.5	-	4	1284	c.1079C>G	c.(1078-1080)aCt>aGt	p.T360S		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTTCTCTCCAGTGTGAATTCG	0.433																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1078-1080)aCt>aGt		zinc finger protein 563							171.0	161.0	164.0					19																	12429760		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429760G>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1079C>G	19.37:g.12429760G>C	ENSP00000293725:p.Thr360Ser						p.T360S	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	1284	-			360					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.1079C>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323598	0.41096	.	.	ENSG00000188868	ENST00000293725	T	0.24151	1.87	1.0	-0.365	0.12549	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33000	0.0848	L	0.31420	0.93	0.20307	N	0.999919	D	0.76494	0.999	D	0.87578	0.998	T	0.19289	-1.0310	9	0.48119	T	0.1	.	7.6862	0.28542	0.0:0.2674:0.7325:0.0	.	360	Q8TA94	ZN563_HUMAN	S	360	ENSP00000293725:T360S	ENSP00000293725:T360S	T	-	2	0	ZNF563	12290760	0.019000	0.18553	0.588000	0.28705	0.349000	0.29174	0.001000	0.13038	-0.058000	0.13177	0.313000	0.20887	ACT		0.433	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		6	679	0	0	0	1	0	6	679				
TROAP	10024	broad.mit.edu	37	12	49717988	49717988	+	Intron	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:49717988C>T	ENST00000257909.3	+	3	413				TROAP_ENST00000549275.1_Intron|TROAP_ENST00000380327.5_Missense_Mutation_p.P130S|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000551245.1_Intron|TROAP_ENST00000547923.1_5'Flank|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000548311.1_Intron	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						ATCTCCCTTTCCTCCAGCAAA	0.522																																						ENST00000380327.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(388-390)Cct>Tct		trophinin associated protein							73.0	76.0	75.0					12																	49717988		2160	4285	6445	SO:0001627	intron_variant	10024				cell adhesion	cytoplasm		g.chr12:49717988C>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.337+168C>T	12.37:g.49717988C>T						TROAP_ENST00000551245.1_Intron|TROAP_ENST00000257909.3_Intron|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000549534.1_3'UTR	p.P130S	NM_001100620.1	NP_001094090.1	Q12815	TROAP_HUMAN			4	488	+			335					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.388C>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347924	0.24426	.	.	ENSG00000135451	ENST00000380327	.	.	.	3.26	0.141	0.14811	.	.	.	.	.	T	0.28134	0.0694	.	.	.	0.09310	N	1	B	0.19331	0.035	B	0.14023	0.01	T	0.22487	-1.0215	7	0.54805	T	0.06	.	5.4321	0.16458	0.0:0.564:0.0:0.436	.	130	Q6PJU7	.	S	130	.	ENSP00000369684:P130S	P	+	1	0	TROAP	48004255	0.000000	0.05858	0.026000	0.17262	0.093000	0.18481	-0.158000	0.10070	0.020000	0.15106	0.563000	0.77884	CCT		0.522	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		12	245	0	0	0	1	0	12	245				
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						ENST00000367049.4																			19	Substitution - Nonsense(19)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6580-6582)Cga>Tga		complement component (3b/4b) receptor 1 (Knops blood group)							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	p.R2194*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6580	+			1744					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6580C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		4	195	0	0	0	1	0	4	195				
AGGF1	55109	broad.mit.edu	37	5	76332530	76332530	+	Silent	SNP	T	T	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr5:76332530T>G	ENST00000312916.7	+	4	1048	c.666T>G	c.(664-666)ggT>ggG	p.G222G		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	222					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ACAGCACTGGTTTCTATTATG	0.423																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(664-666)ggT>ggG		angiogenic factor with G patch and FHA domains 1							48.0	49.0	49.0					5																	76332530		2203	4300	6503	SO:0001819	synonymous_variant	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76332530T>G	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.666T>G	5.37:g.76332530T>G							p.G222G	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	4	1048	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	222					O00581|Q53YS3|Q9BU84|Q9NW66	Silent	SNP	ENST00000312916.7	37	c.666T>G	CCDS4035.1																																																																																				0.423	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		6	298	0	0	0	1	0	6	298				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	0							g.chr20:29628278G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		16	483	0	0	0	1	0	16	483				
HERPUD1	9709	broad.mit.edu	37	16	56973198	56973198	+	Missense_Mutation	SNP	G	G	A	rs373182203		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:56973198G>A	ENST00000439977.2	+	5	678	c.481G>A	c.(481-483)Ggt>Agt	p.G161S	HERPUD1_ENST00000344114.4_Intron|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000379792.2_Missense_Mutation_p.G136S|HERPUD1_ENST00000300302.5_Missense_Mutation_p.G160S|HERPUD1_ENST00000570273.1_3'UTR|RP11-325K4.3_ENST00000565861.1_RNA	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	161					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TGGTTTCTCCGGTTACACACC	0.493			T	ERG	prostate								G|||	1	0.000199681	0.0	0.0	5008	,	,		19903	0.001		0.0	False		,,,				2504	0.0					ENST00000439977.2				Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(481-483)Ggt>Agt		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1		G	SER/GLY,SER/GLY,SER/GLY	0,4396		0,0,2198	170.0	181.0	177.0		478,406,481	5.0	1.0	16		177	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	HERPUD1	NM_001010989.1,NM_001010990.1,NM_014685.2	56,56,56	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	160/391,136/367,161/392	56973198	1,12995	2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56973198G>A	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.481G>A	16.37:g.56973198G>A	ENSP00000409555:p.Gly161Ser					HERPUD1_ENST00000300302.5_Missense_Mutation_p.G160S|HERPUD1_ENST00000379792.2_Missense_Mutation_p.G136S|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000570273.1_3'UTR	p.G161S	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN			5	678	+			161					E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.481G>A	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737940	0.49045	0.0	1.16E-4	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	T	0.28666	1.6	5.97	5.02	0.67125	.	0.312317	0.37577	N	0.002021	T	0.35008	0.0917	L	0.44542	1.39	0.20074	N	0.999937	D;P;D;P	0.69078	0.997;0.745;0.997;0.751	P;B;P;B	0.54100	0.712;0.067;0.742;0.153	T	0.20773	-1.0265	10	0.08381	T	0.77	-6.0487	14.0339	0.64634	0.0719:0.0:0.9281:0.0	.	161;136;160;161	A4UAE9;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	S	160;136;161	ENSP00000369118:G136S	ENSP00000300302:G161S	G	+	1	0	HERPUD1	55530699	0.674000	0.27549	0.967000	0.41034	0.965000	0.64279	2.328000	0.43867	1.527000	0.49086	0.585000	0.79938	GGT		0.493	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			39	803	0	0	0	1	0	39	803				
PID1	55022	broad.mit.edu	37	2	229890686	229890686	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:229890686G>A	ENST00000354069.6	-	3	445	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.R57W|PID1_ENST00000392055.3_Missense_Mutation_p.R106W|PID1_ENST00000392054.3_Missense_Mutation_p.R137W			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	139	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGGAATGGCCGGATTTCCAGG	0.567																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(409-411)Cgg>Tgg		phosphotyrosine interaction domain containing 1							94.0	91.0	92.0					2																	229890686		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890686G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.415C>T	2.37:g.229890686G>A	ENSP00000283937:p.Arg139Trp					PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.R139W|PID1_ENST00000409462.1_Missense_Mutation_p.R57W|PID1_ENST00000392055.3_Missense_Mutation_p.R106W	p.R137W	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	748	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	139			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.409C>T		.	.	.	.	.	.	.	.	.	.	G	20.6	4.010246	0.75046	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.55	5.55	0.83447	Pleckstrin homology-type (1);	0.124895	0.56097	D	0.000030	T	0.68622	0.3021	L	0.36672	1.1	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.968;0.968;0.999;0.998	T	0.64508	-0.6391	8	.	.	.	-10.0864	18.8642	0.92285	0.0:0.0:1.0:0.0	.	57;106;137;139	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	W	137;57;106;139;139	.	.	R	-	1	2	PID1	229598930	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	7.240000	0.78192	2.768000	0.95171	0.655000	0.94253	CGG		0.567	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		13	250	0	0	0	1	0	13	250				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	456	0	0	0	1	0	7	456				
LOC101243545	101243545	broad.mit.edu	37	3	161147009	161147009	+	lincRNA	SNP	A	A	G	rs572435760	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:161147009A>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CCGAATCAGGATGTTGACCTT	0.438													N|||	6	0.00119808	0.0038	0.0	5008	,	,		16178	0.0		0.0	False		,,,				2504	0.001					ENST00000473595.1																			0																				100.0	110.0	106.0					3																	161147009		1506	2683	4189			0							g.chr3:161147009A>G																													3.37:g.161147009A>G						RP11-3P17.5_ENST00000602890.1_lincRNA		NR_102265.1						0	1231	+									RNA	SNP	ENST00000473595.1	37																																																																																						0.438	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			8	412	0	0	0	1	0	8	412				
ZNF733P	643955	broad.mit.edu	37	7	62752318	62752318	+	RNA	SNP	T	T	C	rs368763207		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:62752318T>C	ENST00000331425.6	-	0	1117					NR_003952.1				zinc finger protein 733, pseudogene																		ACATTCTTCATATGTGTAGGG	0.433																																						ENST00000331425.6																			0																																																			0							g.chr7:62752318T>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752318T>C								NR_003952.1						0	1117	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.433	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			6	304	0	0	0	1	0	6	304				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000583206.1_5'Flank|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000584811.1_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000428082.2_Splice_Site								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		6	315	0	0	0	1	0	6	315				
TPTE	7179	broad.mit.edu	37	21	10916473	10916473	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:10916473C>A	ENST00000361285.4	-	20	1502	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Missense_Mutation_p.K373N	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	391	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACATATCTCTTCTGAAAAG	0.338																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1117-1119)aaG>aaT		transmembrane phosphatase with tensin homology							106.0	99.0	101.0					21																	10916473		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10916473C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1173G>T	21.37:g.10916473C>A	ENSP00000355208:p.Lys391Asn					TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000361285.4_Missense_Mutation_p.K391N	p.K373N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	19	1486	-			391			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1119G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.398316	0.00198	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98585	-5.01;-5.01;-5.01	1.79	1.79	0.24919	Phosphatase tensin type (1);	0.135724	0.64402	N	0.000003	D	0.89795	0.6818	N	0.02412	-0.56	0.19300	N	0.999971	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.82331	-0.0510	10	0.12766	T	0.61	-9.0395	4.8086	0.13331	0.6724:0.3276:0.0:0.0	.	353;373;391	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	373;391;353	ENSP00000298232:K373N;ENSP00000355208:K391N;ENSP00000344441:K353N	ENSP00000298232:K373N	K	-	3	2	TPTE	9938344	0.322000	0.24634	0.981000	0.43875	0.164000	0.22412	0.135000	0.15952	0.160000	0.19432	-1.447000	0.01057	AAG		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	401	1	0	0.00116845	1	0.00117608	6	401				
RPTN	126638	broad.mit.edu	37	1	152128617	152128617	+	Missense_Mutation	SNP	T	T	C	rs12117644		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:152128617T>C	ENST00000316073.3	-	3	1022	c.958A>G	c.(958-960)Agt>Ggt	p.S320G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	320	Gln-rich.		S -> G (in dbSNP:rs12117644).			cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACTGTAGTGGGAA	0.507																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(958-960)Agt>Ggt		repetin							740.0	647.0	675.0					1																	152128617		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128617T>C	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.958A>G	1.37:g.152128617T>C	ENSP00000317895:p.Ser320Gly						p.S320G	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1022	-			320		S -> G (in dbSNP:rs12117644).	Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.958A>G	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	t	0.018	-1.477684	0.01035	.	.	ENSG00000215853	ENST00000316073	T	0.10960	2.82	4.03	-0.201	0.13212	.	0.515229	0.14305	N	0.328061	T	0.00695	0.0023	N	0.01454	-0.855	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46498	-0.9187	10	0.02654	T	1	.	7.482	0.27411	0.0:0.4802:0.0:0.5198	rs12117644	320	Q6XPR3	RPTN_HUMAN	G	320	ENSP00000317895:S320G	ENSP00000317895:S320G	S	-	1	0	RPTN	150395241	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.125000	0.10579	0.045000	0.15804	-0.565000	0.04167	AGT		0.507	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		11	2199	0	0	0	1	0	11	2199				
ZNF496	84838	broad.mit.edu	37	1	247473673	247473673	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:247473673T>C	ENST00000294753.4	-	6	1201	c.737A>G	c.(736-738)tAt>tGt	p.Y246C	ZNF496_ENST00000366498.2_Missense_Mutation_p.Y282C|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	246	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAACTCTCCATAGAAGCCAGT	0.507																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(736-738)tAt>tGt		zinc finger protein 496							77.0	67.0	70.0					1																	247473673		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247473673T>C	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.737A>G	1.37:g.247473673T>C	ENSP00000294753:p.Tyr246Cys					ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.Y282C	p.Y246C	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		6	1201	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		246			KRAB.		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.737A>G	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.103212	0.56183	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07021	3.23;3.23	3.65	3.65	0.41850	Krueppel-associated box (4);	0.000000	0.38897	N	0.001537	T	0.27559	0.0677	M	0.84156	2.68	0.35851	D	0.826793	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.30090	-0.9990	10	0.56958	D	0.05	-23.0442	8.8913	0.35434	0.0:0.0:0.0:1.0	.	282;246	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	C	246;282	ENSP00000294753:Y246C;ENSP00000355454:Y282C	ENSP00000294753:Y246C	Y	-	2	0	ZNF496	245540296	0.987000	0.35691	0.963000	0.40424	0.966000	0.64601	3.047000	0.49854	1.672000	0.50884	0.533000	0.62120	TAT		0.507	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		14	281	0	0	0	1	0	14	281				
ZNF99	7652	broad.mit.edu	37	19	22940877	22940877	+	Missense_Mutation	SNP	G	G	T	rs74455660		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:22940877G>T	ENST00000596209.1	-	4	1924	c.1834C>A	c.(1834-1836)Cag>Aag	p.Q612K	ZNF99_ENST00000397104.3_Missense_Mutation_p.Q521K	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q521K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTGATGTTTTCTA	0.378																																						ENST00000397104.3																			1	Substitution - Missense(1)	p.Q521K(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1561-1563)Cag>Aag		zinc finger protein 99		G	LYS/GLN	0,3932		0,0,1966	35.0	40.0	38.0		1561	-2.3	0.0	19	dbSNP_131	38	1,8385		0,1,4192	no	missense	ZNF99	NM_001080409.2	53	0,1,6158	TT,TG,GG		0.0119,0.0,0.0081	benign	521/912	22940877	1,12317	1966	4193	6159	SO:0001583	missense	7652							g.chr19:22940877G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1834C>A	19.37:g.22940877G>T	ENSP00000472969:p.Gln612Lys					ZNF99_ENST00000596209.1_Missense_Mutation_p.Q612K	p.Q521K							5	1560	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1561C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	0.018	-1.470556	0.01044	0.0	1.19E-4	ENSG00000213973	ENST00000397104	T	0.24151	1.87	1.16	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12860	0.0312	N	0.25957	0.775	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17137	-1.0379	9	0.20519	T	0.43	.	2.1045	0.03688	0.2443:0.128:0.456:0.1717	.	521	A8MXY4	ZNF99_HUMAN	K	521	ENSP00000380293:Q521K	ENSP00000380293:Q521K	Q	-	1	0	ZNF99	22732717	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.998000	0.00317	-4.672000	0.00037	-3.580000	0.00029	CAG		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		5	373	1	0	3.86212e-05	1	3.96511e-05	5	373				
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCTGGATAAATATGGAAGCGT	0.343																																						ENST00000312132.4																			0																																																			0							g.chr7:102912190T>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912190T>G														0	2389	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.343	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		6	215	0	0	0	1	0	6	215				
SON	6651	broad.mit.edu	37	21	34923961	34923961	+	Silent	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:34923961C>T	ENST00000356577.4	+	3	2899	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	SON_ENST00000290239.6_Silent_p.T808T|SON_ENST00000300278.4_Silent_p.T808T|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.T808T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	808	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T808T(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTAGCAACCAGCTCCATGG	0.512																																						ENST00000356577.4																			2	Substitution - coding silent(2)	p.T808T(2)	endometrium(2)	breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2422-2424)acC>acT		SON DNA binding protein							132.0	132.0	132.0					21																	34923961		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923961C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2424C>T	21.37:g.34923961C>T						SON_ENST00000381679.4_Silent_p.T808T|SON_ENST00000300278.4_Silent_p.T808T|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.T808T	p.T808T	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	2899	+			808			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.2424C>T	CCDS13629.1																																																																																				0.512	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		9	920	0	0	0	1	0	9	920				
SLC27A3	11000	broad.mit.edu	37	1	153747855	153747855	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:153747855G>A	ENST00000368661.3	+	1	88	c.23G>A	c.(22-24)cGc>cAc	p.R8H	SLC27A3_ENST00000271857.2_Missense_Mutation_p.R89H|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	8					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCGCACGCGCGCTCCCTGG	0.677																																						ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(265-267)cGc>cAc		solute carrier family 27 (fatty acid transporter), member 3							52.0	58.0	56.0					1																	153747855		2203	4300	6503	SO:0001583	missense	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153747855G>A	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.23G>A	1.37:g.153747855G>A	ENSP00000357650:p.Arg8His					SLC27A3_ENST00000368661.3_Missense_Mutation_p.R8H|SLC27A3_ENST00000484014.1_3'UTR	p.R89H			Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	1026	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		8					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.266G>A	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541870	0.65198	.	.	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.62105	0.05;0.2	4.32	4.32	0.51571	.	.	.	.	.	T	0.42810	0.1219	N	0.08118	0	0.28144	N	0.929672	D	0.76494	0.999	P	0.56751	0.805	T	0.46965	-0.9153	9	0.87932	D	0	-3.5406	12.3256	0.55009	0.0:0.0:1.0:0.0	.	8	Q5K4L6	S27A3_HUMAN	H	89;8	ENSP00000271857:R89H;ENSP00000357650:R8H	ENSP00000271857:R89H	R	+	2	0	SLC27A3	152014479	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	1.460000	0.35244	1.973000	0.57446	0.462000	0.41574	CGC		0.677	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		20	329	0	0	0	1	0	20	329				
NOVA1	4857	broad.mit.edu	37	14	27064659	27064659	+	Silent	SNP	A	A	T	rs115769795	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:27064659A>T	ENST00000344429.5	-	2	240	c.237T>A	c.(235-237)acT>acA	p.T79T	NOVA1_ENST00000267422.7_5'UTR|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1_ENST00000465357.2_Silent_p.T79T|NOVA1_ENST00000539517.2_Silent_p.T79T|NOVA1-AS1_ENST00000547786.1_RNA|NOVA1_ENST00000551754.1_5'UTR|NOVA1_ENST00000547619.1_Silent_p.T79T|NOVA1_ENST00000574031.1_Silent_p.T79T	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	79	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGTGGCTCCAGTTTCTTTTT	0.423																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(235-237)acT>acA		neuro-oncological ventral antigen 1							165.0	155.0	158.0					14																	27064659		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:27064659A>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.237T>A	14.37:g.27064659A>T						NOVA1_ENST00000547619.1_Silent_p.T79T|NOVA1_ENST00000551754.1_5'UTR|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000574031.1_Silent_p.T79T|NOVA1_ENST00000465357.2_Silent_p.T79T|NOVA1_ENST00000344429.5_Silent_p.T79T	p.T79T	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	2	554	-			79			KH 1.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000344429.5	37	c.237T>A	CCDS9635.1																																																																																				0.423	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491		6	464	0	0	0	1	0	6	464				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		4	91	0	0	0	1	0	4	91				
ANKZF1	55139	broad.mit.edu	37	2	220096743	220096743	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:220096743T>C	ENST00000323348.5	+	3	416	c.242T>C	c.(241-243)tTc>tCc	p.F81S	ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000361242.4_5'Flank|ANKZF1_ENST00000410034.3_Missense_Mutation_p.F81S|ANKZF1_ENST00000409849.1_Intron|ATG9A_ENST00000396761.2_5'Flank|ATG9A_ENST00000409422.1_5'Flank|ATG9A_ENST00000409618.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	81						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCAGACCTTCCAGAACCAC	0.438																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(241-243)tTc>tCc		ankyrin repeat and zinc finger domain containing 1							88.0	87.0	87.0					2																	220096743		1888	4109	5997	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220096743T>C	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.242T>C	2.37:g.220096743T>C	ENSP00000321617:p.Phe81Ser					ANKZF1_ENST00000410034.3_Missense_Mutation_p.F81S|ANKZF1_ENST00000409849.1_Intron	p.F81S	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	416	+		Renal(207;0.0474)	81					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.242T>C	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839907	0.51057	.	.	ENSG00000163516	ENST00000323348;ENST00000453432;ENST00000410034;ENST00000447157;ENST00000436226	T;T;T	0.52754	0.65;0.65;0.65	5.12	5.12	0.69794	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.050567	0.85682	D	0.000000	T	0.66992	0.2846	M	0.92604	3.325	0.53688	D	0.999979	D	0.54601	0.967	P	0.52909	0.713	T	0.75459	-0.3310	10	0.66056	D	0.02	-8.426	11.2524	0.49034	0.0:0.0:0.0:1.0	.	81	Q9H8Y5	ANKZ1_HUMAN	S	81;16;81;81;81	ENSP00000321617:F81S;ENSP00000386337:F81S;ENSP00000399667:F81S	ENSP00000321617:F81S	F	+	2	0	ANKZF1	219804987	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	4.365000	0.59486	2.150000	0.67090	0.383000	0.25322	TTC		0.438	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		5	338	0	0	0	1	0	5	338				
TMPRSS15	5651	broad.mit.edu	37	21	19653400	19653400	+	Silent	SNP	G	G	A	rs148756781		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:19653400G>A	ENST00000284885.3	-	22	2658	c.2625C>T	c.(2623-2625)aaC>aaT	p.N875N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	875	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGGCAATGTCGTTGTCCTTTC	0.348																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2623-2625)aaC>aaT		transmembrane protease, serine 15		G		2,4404	4.2+/-10.8	0,2,2201	201.0	190.0	194.0		2625	0.3	0.2	21	dbSNP_134	194	0,8600		0,0,4300	no	coding-synonymous	TMPRSS15	NM_002772.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		875/1020	19653400	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19653400G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2625C>T	21.37:g.19653400G>A							p.N875N	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			22	2658	-			875			Peptidase S1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.2625C>T	CCDS13571.1																																																																																				0.348	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		7	606	0	0	0	1	0	7	606				
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340.0	303.0	316.0					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		8	823	0	0	0	1	0	8	823				
RBP3	5949	broad.mit.edu	37	10	48389530	48389530	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr10:48389530C>T	ENST00000224600.4	-	1	1461	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	450	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGACGGAGGCGTCAGCAAAA	0.617																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1348-1350)Gcc>Acc		retinol binding protein 3, interstitial	Vitamin A(DB00162)						66.0	57.0	60.0					10																	48389530		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389530C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1348G>A	10.37:g.48389530C>T	ENSP00000224600:p.Ala450Thr						p.A450T	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1461	-			450			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1348G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143091	0.37825	.	.	ENSG00000107618	ENST00000224600	T	0.64260	-0.09	5.29	4.29	0.51040	Interphotoreceptor retinol-binding (2);	0.373325	0.28296	N	0.015863	T	0.67392	0.2888	N	0.21545	0.675	0.33964	D	0.645929	D	0.89917	1.0	D	0.81914	0.995	T	0.76498	-0.2937	10	0.59425	D	0.04	-20.5537	15.7345	0.77831	0.1457:0.8543:0.0:0.0	.	450	P10745	RET3_HUMAN	T	450	ENSP00000224600:A450T	ENSP00000224600:A450T	A	-	1	0	RBP3	48009536	0.604000	0.26932	0.052000	0.19188	0.192000	0.23643	1.115000	0.31209	2.483000	0.83821	0.561000	0.74099	GCC		0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		5	206	0	0	0	1	0	5	206				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		10	250	0	0	0	1	0	10	250				
ZNF551	90233	broad.mit.edu	37	19	58199100	58199100	+	Missense_Mutation	SNP	G	G	A	rs138423649		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:58199100G>A	ENST00000282296.5	+	3	1642	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H			Q7Z340	ZN551_HUMAN	zinc finger protein 551	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCTTTAGCCGCAAATTTATC	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21000	0.0		0.0	False		,,,				2504	0.0					ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1456-1458)cGc>cAc		zinc finger protein 551		G	HIS/ARG	0,4406		0,0,2203	77.0	75.0	76.0		1409	-3.3	0.0	19	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	no	missense	ZNF551	NM_138347.3	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	470/655	58199100	3,13003	2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199100G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1457G>A	19.37:g.58199100G>A	ENSP00000282296:p.Arg486His					ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron	p.R486H	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1642	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	486					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1457G>A	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.294|4.294	0.053749|0.053749	0.08291|0.08291	0.0|0.0	3.49E-4|3.49E-4	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.48|2.48	-3.34|-3.34	0.04943|0.04943	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	4.615670|.	0.00805|.	U|.	0.001456|.	T|T	0.27098|0.27098	0.0664|0.0664	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	.|B	.|0.15719	.|0.014	.|B	.|0.06405	.|0.002	T|T	0.32534|0.32534	-0.9903|-0.9903	7|8	0.19590|0.13108	T|T	0.45|0.6	.|.	6.9251|6.9251	0.24410|0.24410	0.4892:0.0:0.5108:0.0|0.4892:0.0:0.5108:0.0	.|.	.|486	.|Q7Z340	.|ZN551_HUMAN	V|H	102|486;470;269	.|.	ENSP00000437781:A102V|ENSP00000282296:R470H	A|R	-|+	2|2	0|0	AC004017.1|ZNF551	62890912|62890912	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-4.824000|-4.824000	0.00181|0.00181	-0.805000|-0.805000	0.04404|0.04404	-0.300000|-0.300000	0.09419|0.09419	GCG|CGC		0.423	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		5	455	0	0	0	1	0	5	455				
PHF12	57649	broad.mit.edu	37	17	27239855	27239855	+	Silent	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:27239855C>T	ENST00000332830.4	-	9	2544	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	PHF12_ENST00000268756.3_Silent_p.R578R|PHF12_ENST00000577226.1_Silent_p.R578R|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCCAGCCTTGCCGGTGTGAGA	0.637																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1732-1734)cgG>cgA		PHD finger protein 12							43.0	48.0	46.0					17																	27239855		2203	4300	6503	SO:0001819	synonymous_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27239855C>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1734G>A	17.37:g.27239855C>T						PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.R578R|PHF12_ENST00000268756.3_Silent_p.R578R	p.R578R			Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		9	2080	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		578			Interaction with SIN3A.			Silent	SNP	ENST00000332830.4	37	c.1734G>A	CCDS32598.1																																																																																				0.637	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		6	328	0	0	0	1	0	6	328				
GREB1	9687	broad.mit.edu	37	2	11772081	11772081	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:11772081G>A	ENST00000381486.2	+	27	4958	c.4658G>A	c.(4657-4659)cGt>cAt	p.R1553H	GREB1_ENST00000396123.1_Missense_Mutation_p.R551H|GREB1_ENST00000234142.5_Missense_Mutation_p.R1553H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1553						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACCACCGGCCGTCACGAACAT	0.443																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(4657-4659)cGt>cAt		growth regulation by estrogen in breast cancer 1							98.0	95.0	96.0					2																	11772081		1927	4125	6052	SO:0001583	missense	9687					integral to membrane		g.chr2:11772081G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4658G>A	2.37:g.11772081G>A	ENSP00000370896:p.Arg1553His					GREB1_ENST00000396123.1_Missense_Mutation_p.R551H|GREB1_ENST00000234142.5_Missense_Mutation_p.R1553H	p.R1553H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	27	4958	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1553					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4658G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554458	0.86231	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.55930	0.49;0.49;0.49	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76591	-0.2903	10	0.72032	D	0.01	-21.4125	19.3358	0.94319	0.0:0.0:1.0:0.0	.	1553	Q4ZG55	GREB1_HUMAN	H	1553;1553;551	ENSP00000370896:R1553H;ENSP00000234142:R1553H;ENSP00000379429:R551H	ENSP00000234142:R1553H	R	+	2	0	GREB1	11689532	1.000000	0.71417	0.963000	0.40424	0.471000	0.32888	9.343000	0.97047	2.573000	0.86826	0.557000	0.71058	CGT		0.443	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		13	282	0	0	0	1	0	13	282				
PLEKHA7	144100	broad.mit.edu	37	11	16872763	16872763	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:16872763C>T	ENST00000355661.3	-	8	681	c.671G>A	c.(670-672)cGc>cAc	p.R224H	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R224H|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R224H			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	224	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.R224H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCGGCTTATGCGATCCTCAGG	0.483																																						ENST00000355661.3																			1	Substitution - Missense(1)	p.R224H(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(670-672)cGc>cAc		pleckstrin homology domain containing, family A member 7							105.0	98.0	100.0					11																	16872763		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16872763C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.671G>A	11.37:g.16872763C>T	ENSP00000347883:p.Arg224His					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R224H|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R224H	p.R224H			Q6IQ23	PKHA7_HUMAN			8	681	-			224			PH.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.671G>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	8.567	0.879093	0.17395	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000528376	T;T;T;T	0.75821	-0.97;-0.97;-0.97;2.73	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.095653	0.64402	D	0.000001	T	0.57021	0.2025	N	0.25094	0.71	0.43047	D	0.99464	B;B	0.23442	0.006;0.085	B;B	0.22880	0.006;0.042	T	0.53725	-0.8398	10	0.02654	T	1	-20.3034	13.6784	0.62469	0.0:0.9262:0.0:0.0738	.	224;224	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	H	224;224;224;118	ENSP00000435389:R224H;ENSP00000347883:R224H;ENSP00000416895:R224H;ENSP00000435806:R118H	ENSP00000347883:R224H	R	-	2	0	PLEKHA7	16829339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.732000	0.55021	2.605000	0.88082	0.655000	0.94253	CGC		0.483	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		5	319	0	0	0	1	0	5	319				
PIK3C2A	5286	broad.mit.edu	37	11	17190613	17190613	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:17190613G>C	ENST00000265970.7	-	1	675	c.676C>G	c.(676-678)Cta>Gta	p.L226V	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	226					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTGTCAAATAGTTTTGCCATG	0.378																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(676-678)Cta>Gta		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						61.0	58.0	59.0					11																	17190613		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190613G>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.676C>G	11.37:g.17190613G>C	ENSP00000265970:p.Leu226Val					PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	p.L226V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			1	675	-			226					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.676C>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283209	0.23392	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.68903	-0.36	5.53	4.62	0.57501	.	0.150075	0.46145	N	0.000306	T	0.45458	0.1343	N	0.24115	0.695	0.80722	D	1	P;B	0.36683	0.565;0.058	B;B	0.25884	0.064;0.017	T	0.41395	-0.9511	10	0.30078	T	0.28	-7.8251	10.3363	0.43852	0.0778:0.1736:0.7486:0.0	.	226;226	F5H5W9;O00443	.;P3C2A_HUMAN	V	226	ENSP00000265970:L226V	ENSP00000265970:L226V	L	-	1	2	PIK3C2A	17147189	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.116000	0.50399	1.335000	0.45486	-0.218000	0.12543	CTA		0.378	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		5	181	0	0	0	1	0	5	181				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	169	0	0	0	1	0	4	169				
CARD9	64170	broad.mit.edu	37	9	139265516	139265516	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:139265516G>A	ENST00000371732.5	-	4	569	c.404C>T	c.(403-405)gCg>gTg	p.A135V	CARD9_ENST00000315908.7_Missense_Mutation_p.A135V|CARD9_ENST00000371734.3_Missense_Mutation_p.A135V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	135					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCTCAGCAGCGCGGTCAGGTC	0.612																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(403-405)gCg>gTg		caspase recruitment domain family, member 9							44.0	39.0	41.0					9																	139265516		2199	4297	6496	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139265516G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.404C>T	9.37:g.139265516G>A	ENSP00000360797:p.Ala135Val					CARD9_ENST00000315908.7_Missense_Mutation_p.A135V|CARD9_ENST00000371734.3_Missense_Mutation_p.A135V	p.A135V	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	4	569	-		Myeloproliferative disorder(178;0.0511)	135					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.404C>T	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	5.443	0.266829	0.10294	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.35421	1.31;1.31;1.31	4.72	1.27	0.21489	.	0.911173	0.09365	N	0.812180	T	0.19446	0.0467	N	0.17838	0.53	0.09310	N	1	B;B;B;B	0.20261	0.043;0.003;0.01;0.01	B;B;B;B	0.14578	0.011;0.008;0.002;0.002	T	0.24657	-1.0154	10	0.30078	T	0.28	-20.6527	2.4605	0.04540	0.297:0.0:0.2608:0.4422	.	31;135;135;135	B4DIK5;Q9H257-2;Q5SXM5;Q9H257	.;.;.;CARD9_HUMAN	V	135	ENSP00000360799:A135V;ENSP00000360797:A135V;ENSP00000323719:A135V	ENSP00000323719:A135V	A	-	2	0	CARD9	138385337	0.000000	0.05858	0.178000	0.23040	0.090000	0.18270	0.365000	0.20348	0.393000	0.25203	-0.253000	0.11424	GCG		0.612	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		11	146	0	0	0	1	0	11	146				
ALDH16A1	126133	broad.mit.edu	37	19	49964157	49964157	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:49964157G>A	ENST00000293350.4	+	5	740		c.e5+1		ALDH16A1_ENST00000433981.2_Splice_Site|ALDH16A1_ENST00000455361.2_Splice_Site|ALDH16A1_ENST00000540132.1_Splice_Site|CTD-3148I10.9_ENST00000599536.1_5'Flank	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTGGCTGTGGGTAAATGATGG	0.557																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.e5+1		aldehyde dehydrogenase 16 family, member A1							88.0	82.0	84.0					19																	49964157		2203	4300	6503	SO:0001630	splice_region_variant	126133						oxidoreductase activity|protein binding	g.chr19:49964157G>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.577+1G>A	19.37:g.49964157G>A						ALDH16A1_ENST00000540132.1_Splice_Site|ALDH16A1_ENST00000433981.2_Splice_Site|ALDH16A1_ENST00000455361.2_Splice_Site		NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	5	740	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)						B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Splice_Site	SNP	ENST00000293350.4	37		CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966777	0.74131	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0276	0.71682	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALDH16A1	54655969	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.134000	0.50538	2.704000	0.92352	0.585000	0.79938	.		0.557	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329	Intron	10	306	0	0	0	1	0	10	306				
CASP10	843	broad.mit.edu	37	2	202073970	202073970	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:202073970C>T	ENST00000272879.5	+	9	1284	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L	CASP10_ENST00000346817.5_Missense_Mutation_p.S324L|CASP10_ENST00000286186.6_Missense_Mutation_p.S367L|CASP10_ENST00000448480.1_Missense_Mutation_p.S324L|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.S300L	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	367					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTCTACTCTTCGGATGAGGCC	0.527																																						ENST00000286186.6																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1099-1101)tCg>tTg		caspase 10, apoptosis-related cysteine peptidase							155.0	140.0	145.0					2																	202073970		2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202073970C>T	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1100C>T	2.37:g.202073970C>T	ENSP00000272879:p.Ser367Leu					CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.S324L|CASP10_ENST00000272879.5_Missense_Mutation_p.S367L|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.S300L|CASP10_ENST00000448480.1_Missense_Mutation_p.S324L	p.S367L	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN			9	1535	+			367					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.1100C>T	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299455	0.60195	.	.	ENSG00000003400	ENST00000286186;ENST00000272879;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.05	5.05	0.67936	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.342415	0.29087	N	0.013181	T	0.49440	0.1557	M	0.89353	3.025	0.31327	N	0.68525	D;D;D;D;D	0.89917	0.978;1.0;1.0;0.994;0.995	P;D;D;P;P	0.72982	0.759;0.947;0.979;0.772;0.768	T	0.61242	-0.7102	10	0.52906	T	0.07	.	10.695	0.45894	0.1465:0.7121:0.1414:0.0	.	300;324;367;324;367	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4	.;.;CASPA_HUMAN;.;.	L	367;367;324;300;324	ENSP00000286186:S367L;ENSP00000272879:S367L;ENSP00000237865:S324L;ENSP00000314599:S300L;ENSP00000396835:S324L	ENSP00000272879:S367L	S	+	2	0	CASP10	201782215	0.000000	0.05858	0.017000	0.16124	0.020000	0.10135	0.844000	0.27654	2.361000	0.80049	0.650000	0.86243	TCG		0.527	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		8	482	0	0	0	1	0	8	482				
KCNA4	3739	broad.mit.edu	37	11	30033662	30033662	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:30033662C>G	ENST00000328224.6	-	2	1797	c.564G>C	c.(562-564)gaG>gaC	p.E188D	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	188					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TCATTTGGGTCTCAAAGCGTA	0.493																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(562-564)gaG>gaC		potassium voltage-gated channel, shaker-related subfamily, member 4							65.0	65.0	65.0					11																	30033662		2020	4160	6180	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033662C>G	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.564G>C	11.37:g.30033662C>G	ENSP00000328511:p.Glu188Asp						p.E188D	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1797	-			188						Missense_Mutation	SNP	ENST00000328224.6	37	c.564G>C	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967116	0.53507	.	.	ENSG00000182255	ENST00000328224	T	0.78246	-1.16	4.81	3.88	0.44766	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.83510	0.5270	H	0.96398	3.815	0.58432	D	0.999993	P	0.43938	0.822	B	0.41135	0.348	D	0.85507	0.1195	10	0.87932	D	0	.	9.2552	0.37579	0.0:0.7634:0.0:0.2366	.	188	P22459	KCNA4_HUMAN	D	188	ENSP00000328511:E188D	ENSP00000328511:E188D	E	-	3	2	KCNA4	29990238	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.176000	0.31957	1.001000	0.39076	0.561000	0.74099	GAG		0.493	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		11	279	0	0	0	1	0	11	279				
FAM8A1	51439	broad.mit.edu	37	6	17608527	17608527	+	Missense_Mutation	SNP	T	T	C	rs200658703		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:17608527T>C	ENST00000259963.3	+	5	1254	c.1199T>C	c.(1198-1200)aTt>aCt	p.I400T		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	400	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCTTATGACATTGTAGCAGGA	0.398																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(1198-1200)aTt>aCt		family with sequence similarity 8, member A1							95.0	90.0	91.0					6																	17608527		2203	4300	6503	SO:0001583	missense	51439					integral to membrane		g.chr6:17608527T>C	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1199T>C	6.37:g.17608527T>C	ENSP00000259963:p.Ile400Thr						p.I400T	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		5	1254	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	400			RDD.		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.1199T>C	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375621	0.82682	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.63	5.63	0.86233	RDD (1);	0.101193	0.64402	D	0.000002	T	0.72061	0.3414	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.76288	-0.3014	9	0.72032	D	0.01	-7.7083	15.837	0.78805	0.0:0.0:0.0:1.0	.	400	Q9UBU6	FA8A1_HUMAN	T	150;400	.	ENSP00000259963:I400T	I	+	2	0	FAM8A1	17716506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.940000	0.70187	2.143000	0.66587	0.455000	0.32223	ATT		0.398	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			5	367	0	0	0	1	0	5	367				
CSNK2A1	1457	broad.mit.edu	37	20	470440	470440	+	Missense_Mutation	SNP	T	T	C	rs61730060	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr20:470440T>C	ENST00000217244.3	-	10	1082	c.707A>G	c.(706-708)cAt>cGt	p.H236R	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.H100R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.H236R(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATAATTGTCATGTCCATGGAA	0.373																																						ENST00000217244.3																			2	Substitution - Missense(2)	p.H236R(2)	lung(1)|central_nervous_system(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(706-708)cAt>cGt		casein kinase 2, alpha 1 polypeptide							94.0	83.0	87.0					20																	470440		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:470440T>C	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.707A>G	20.37:g.470440T>C	ENSP00000217244:p.His236Arg					CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R	p.H236R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		10	1082	-		Breast(17;0.231)	236			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.707A>G	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.018985	0.54576	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.096383	0.85682	D	0.000000	T	0.35566	0.0936	N	0.01640	-0.785	0.80722	D	1	B	0.16166	0.016	B	0.13407	0.009	T	0.27088	-1.0084	10	0.40728	T	0.16	-5.9305	14.2644	0.66107	0.0:0.0:0.0:1.0	.	236	P68400	CSK21_HUMAN	R	236;236;236;236;100	ENSP00000383086:H236R;ENSP00000339247:H236R;ENSP00000217244:H236R;ENSP00000383076:H100R	ENSP00000217244:H236R	H	-	2	0	CSNK2A1	418440	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.791000	0.85805	2.213000	0.71641	0.477000	0.44152	CAT		0.373	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		5	188	0	0	0	1	0	5	188				
MST1R	4486	broad.mit.edu	37	3	49932714	49932714	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:49932714G>A	ENST00000296474.3	-	14	3184	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1053					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACTCTTTCCGCAGCAGTGGC	0.567																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(3157-3159)Cgg>Tgg		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							150.0	144.0	146.0					3																	49932714		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49932714G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3157C>T	3.37:g.49932714G>A	ENSP00000296474:p.Arg1053Trp					MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	p.R1053W	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	14	3184	-			1053					B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3157C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.332890	0.41297	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.10288	2.89;2.89	5.84	1.71	0.24356	.	0.615148	0.17959	N	0.156241	T	0.18173	0.0436	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	P	0.53185	0.72	T	0.04065	-1.0980	10	0.62326	D	0.03	-2.2724	8.0852	0.30769	0.1508:0.0:0.6705:0.1787	.	1053	Q04912	RON_HUMAN	W	1053;1004	ENSP00000296474:R1053W;ENSP00000341325:R1004W	ENSP00000296474:R1053W	R	-	1	2	MST1R	49907718	0.000000	0.05858	0.363000	0.25875	0.029000	0.11900	0.091000	0.15046	0.826000	0.34661	-0.215000	0.12644	CGG		0.567	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			8	712	0	0	0	1	0	8	712				
FAM120A	23196	broad.mit.edu	37	9	96326634	96326634	+	Missense_Mutation	SNP	G	G	A	rs369844257		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:96326634G>A	ENST00000277165.6	+	18	3363	c.3169G>A	c.(3169-3171)Gag>Aag	p.E1057K	FAM120A_ENST00000340893.4_Missense_Mutation_p.E1011K|AL353629.1_ENST00000582353.1_RNA|FAM120A_ENST00000333936.5_Missense_Mutation_p.E1085K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1057	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGTGATGGCCGAGGAGAAGCC	0.537																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(3169-3171)Gag>Aag		family with sequence similarity 120A		G	LYS/GLU	0,4406		0,0,2203	71.0	80.0	77.0		3169	5.3	1.0	9		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM120A	NM_014612.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1057/1119	96326634	1,13005	2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96326634G>A	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.3169G>A	9.37:g.96326634G>A	ENSP00000277165:p.Glu1057Lys					FAM120A_ENST00000340893.4_Missense_Mutation_p.E1011K|FAM120A_ENST00000333936.5_Missense_Mutation_p.E1085K	p.E1057K	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			18	3363	+			1057			RNA binding.		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.3169G>A	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013611	0.54468	0.0	1.16E-4	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.47528	1.46;1.44;1.41;0.84	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000005	T	0.38692	0.1050	N	0.24115	0.695	0.51012	D	0.999903	P;B;P	0.45428	0.858;0.179;0.588	B;B;B	0.40009	0.316;0.024;0.142	T	0.37934	-0.9684	10	0.54805	T	0.06	-19.3722	18.9618	0.92680	0.0:0.0:1.0:0.0	.	1011;1085;1057	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	K	1057;1085;1011;433	ENSP00000277165:E1057K;ENSP00000334918:E1085K;ENSP00000344698:E1011K;ENSP00000412440:E433K	ENSP00000277165:E1057K	E	+	1	0	FAM120A	95366455	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.874000	0.63064	2.472000	0.83506	0.591000	0.81541	GAG		0.537	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		7	476	0	0	0	1	0	7	476				
KRTAP4-6	81871	broad.mit.edu	37	17	39296431	39296431	+	Silent	SNP	A	A	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:39296431A>G	ENST00000345847.4	-	1	308	c.309T>C	c.(307-309)acT>acC	p.T103T		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	103	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GACGGCAGCAAGTGGGCTGGC	0.652																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(307-309)acT>acC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296431A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.309T>C	17.37:g.39296431A>G							p.T103T	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	308	-			99			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.309T>C	CCDS54125.1																																																																																				0.652	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	183	0	0	0	1	0	4	183				
SEPHS2	22928	broad.mit.edu	37	16	30456632	30456632	+	Missense_Mutation	SNP	G	G	T	rs202134725		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:30456632G>T	ENST00000478753.2	-	1	870	c.417C>A	c.(415-417)ttC>ttA	p.F139L	SEPHS2_ENST00000542752.1_Missense_Mutation_p.F82L|SEPHS2_ENST00000500504.2_Missense_Mutation_p.F139L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	139					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGGGGTAAAAGAAGTCCGTGG	0.602																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(415-417)ttC>ttA		selenophosphate synthetase 2							51.0	52.0	52.0					16																	30456632		2009	4152	6161	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456632G>T	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.417C>A	16.37:g.30456632G>T	ENSP00000418669:p.Phe139Leu					SEPHS2_ENST00000542752.1_Missense_Mutation_p.F82L|SEPHS2_ENST00000500504.2_Missense_Mutation_p.F139L	p.F139L			Q99611	SPS2_HUMAN			1	870	-			139					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.417C>A		.	.	.	.	.	.	.	.	.	.	G	19.46	3.831271	0.71258	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.28666	1.6;1.6;1.6	5.46	3.49	0.39957	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.82056	2.57	0.80722	D	1	P;P	0.40144	0.704;0.582	P;B	0.49085	0.6;0.331	T	0.42531	-0.9446	10	0.62326	D	0.03	-18.3451	6.8368	0.23941	0.2644:0.0:0.7356:0.0	.	139;82	Q99611;F5H8F9	SPS2_HUMAN;.	L	139;82;90;139	ENSP00000418669:F139L;ENSP00000443601:F82L;ENSP00000426234:F139L	ENSP00000390233:F90L	F	-	3	2	SEPHS2	30364133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.645000	0.37238	1.450000	0.47717	0.655000	0.94253	TTC		0.602	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		10	221	1	0	0.000442599	1	0.000448423	10	221				
NBPF1	55672	broad.mit.edu	37	1	16892284	16892284	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:16892284G>C	ENST00000430580.2	-	27	3795	c.2908C>G	c.(2908-2910)Ctg>Gtg	p.L970V		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	970	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTGCCTCCAGCAGCTCCCTG	0.493																																						ENST00000430580.2																			0											c.(2908-2910)Ctg>Gtg		neuroblastoma breakpoint family, member 1							25.0	21.0	22.0					1																	16892284		1481	2588	4069	SO:0001583	missense	55672					cytoplasm		g.chr1:16892284G>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2908C>G	1.37:g.16892284G>C	ENSP00000474456:p.Leu970Val						p.L970V	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	27	3795	-			970			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2908C>G																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		16	3413	0	0	0	1	0	16	3413				
BRWD3	254065	broad.mit.edu	37	X	79971717	79971717	+	Missense_Mutation	SNP	T	T	A	rs146207659		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:79971717T>A	ENST00000373275.4	-	20	2480	c.2264A>T	c.(2263-2265)gAc>gTc	p.D755V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	755					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GATTTCTATGTCACCTTTTGC	0.323																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(2263-2265)gAc>gTc		bromodomain and WD repeat domain containing 3							178.0	152.0	161.0					X																	79971717		2202	4300	6502	SO:0001583	missense	254065							g.chrX:79971717T>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2264A>T	X.37:g.79971717T>A	ENSP00000362372:p.Asp755Val					BRWD3_ENST00000473691.1_5'UTR	p.D755V	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			20	2480	-			755					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.2264A>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388054	0.82902	.	.	ENSG00000165288	ENST00000373275	T	0.32753	1.44	5.17	5.17	0.71159	.	0.093262	0.64402	D	0.000001	T	0.39384	0.1076	L	0.46614	1.455	0.80722	D	1	P	0.52692	0.955	P	0.52793	0.709	T	0.10405	-1.0631	9	.	.	.	-18.5315	14.1257	0.65219	0.0:0.0:0.0:1.0	.	755	Q6RI45	BRWD3_HUMAN	V	755	ENSP00000362372:D755V	.	D	-	2	0	BRWD3	79858373	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	6.301000	0.72782	1.910000	0.55303	0.441000	0.28932	GAC		0.323	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		15	201	0	0	0	1	0	15	201				
GPR116	221395	broad.mit.edu	37	6	46830721	46830721	+	Silent	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:46830721G>A	ENST00000283296.7	-	15	2391	c.2103C>T	c.(2101-2103)ggC>ggT	p.G701G	GPR116_ENST00000362015.4_Silent_p.G701G|GPR116_ENST00000456426.2_Silent_p.G559G|GPR116_ENST00000265417.7_Silent_p.G701G|GPR116_ENST00000545669.1_Silent_p.G130G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	701					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGATGGTCCCGCCAATGGGAC	0.537																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2101-2103)ggC>ggT		G protein-coupled receptor 116							104.0	106.0	105.0					6																	46830721		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46830721G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2103C>T	6.37:g.46830721G>A						GPR116_ENST00000456426.2_Silent_p.G559G|GPR116_ENST00000545669.1_Silent_p.G130G|GPR116_ENST00000265417.7_Silent_p.G701G|GPR116_ENST00000362015.4_Silent_p.G701G	p.G701G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		15	2391	-			701					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.2103C>T	CCDS4919.1																																																																																				0.537	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		6	546	0	0	0	1	0	6	546				
CNTN6	27255	broad.mit.edu	37	3	1418745	1418745	+	Missense_Mutation	SNP	G	G	A	rs140014929		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:1418745G>A	ENST00000446702.2	+	17	2779	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I	CNTN6_ENST00000539053.1_Missense_Mutation_p.V646I|CNTN6_ENST00000350110.2_Missense_Mutation_p.V718I			Q9UQ52	CNTN6_HUMAN	contactin 6	718	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V718I(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCTGAACTCGTCATTACGTG	0.373																																						ENST00000446702.2																			2	Substitution - Missense(2)	p.V718I(2)	large_intestine(1)|pancreas(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2152-2154)Gtc>Atc		contactin 6		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	188.0	178.0	182.0		2152	-0.1	1.0	3	dbSNP_134	182	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTN6	NM_014461.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	718/1029	1418745	2,13004	2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1418745G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2152G>A	3.37:g.1418745G>A	ENSP00000407822:p.Val718Ile					CNTN6_ENST00000539053.1_Missense_Mutation_p.V646I|CNTN6_ENST00000350110.2_Missense_Mutation_p.V718I	p.V718I			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	17	2779	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	718			Fibronectin type-III 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2152G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392335	0.42410	2.27E-4	1.16E-4	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.53857	0.6;0.6;0.6	5.76	-0.13	0.13498	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.235772	0.29684	N	0.011465	T	0.40372	0.1114	L	0.43152	1.355	0.44395	D	0.997306	B	0.15930	0.015	B	0.10450	0.005	T	0.20405	-1.0276	10	0.32370	T	0.25	.	11.0846	0.48080	0.3437:0.0:0.6563:0.0	.	718	Q9UQ52	CNTN6_HUMAN	I	718;646;718	ENSP00000407822:V718I;ENSP00000442791:V646I;ENSP00000341882:V718I	ENSP00000341882:V718I	V	+	1	0	CNTN6	1393745	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	3.636000	0.54317	0.098000	0.17522	0.655000	0.94253	GTC		0.373	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		14	407	0	0	0	1	0	14	407				
ZNF626	199777	broad.mit.edu	37	19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408																																						ENST00000601440.1																			1	Substitution - Missense(1)	p.Y408C(1)	lung(1)	breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1222-1224)tAc>tGc		zinc finger protein 626							59.0	62.0	61.0					19																	20807460		2156	4279	6435	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807460T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1223A>G	19.37:g.20807460T>C	ENSP00000469958:p.Tyr408Cys					CTC-513N18.7_ENST00000595094.1_lincRNA	p.Y408C	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1369	-			408					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1223A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.833357	0.00579	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31845	0.965	0.20074	N	0.999937	B	0.06786	0.001	B	0.15052	0.012	T	0.20739	-1.0266	8	0.34782	T	0.22	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	408	Q68DY1	ZN626_HUMAN	C	408;332;408	.	ENSP00000445201:Y408C	Y	-	2	0	ZNF626	20599300	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.822000	0.00096	0.243000	0.21327	0.240000	0.17902	TAC		0.408	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		7	547	0	0	0	1	0	7	547				
CSMD1	64478	broad.mit.edu	37	8	3263557	3263557	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr8:3263557C>T	ENST00000520002.1	-	16	2816	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H	CSMD1_ENST00000400186.3_Missense_Mutation_p.R754H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R753H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R754H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R753H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R753H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R754H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	754	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCTTCACAGCGGGGCACGGT	0.532																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(2260-2262)cGc>cAc		CUB and Sushi multiple domains 1							48.0	50.0	49.0					8																	3263557		1996	4177	6173	SO:0001583	missense	64478					integral to membrane		g.chr8:3263557C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2261G>A	8.37:g.3263557C>T	ENSP00000430733:p.Arg754His					CSMD1_ENST00000542608.1_Missense_Mutation_p.R753H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R753H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R754H|CSMD1_ENST00000520002.1_Missense_Mutation_p.R754H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R753H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R754H	p.R754H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2816	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	754			Sushi 4.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2261G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.072882	0.93950	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	L	0.42008	1.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.65364	-0.6186	10	0.15066	T	0.55	.	19.0906	0.93225	0.0:1.0:0.0:0.0	.	754;754	E5RIG2;Q96PZ7	.;CSMD1_HUMAN	H	754;754;616;753;753;753	ENSP00000383047:R754H;ENSP00000430733:R754H;ENSP00000441462:R753H;ENSP00000446243:R753H;ENSP00000441675:R753H	ENSP00000320445:R616H	R	-	2	0	CSMD1	3250964	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.287000	0.78681	2.486000	0.83907	0.591000	0.81541	CGC		0.532	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		11	170	0	0	0	1	0	11	170				
CYP2A13	1553	broad.mit.edu	37	19	41597726	41597726	+	Silent	SNP	C	C	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:41597726C>A	ENST00000330436.3	+	5	744	c.744C>A	c.(742-744)atC>atA	p.I248I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	248					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	AGGACTTCATCGCCAAGAAGG	0.557																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(742-744)atC>atA		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						161.0	122.0	135.0					19																	41597726		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41597726C>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.744C>A	19.37:g.41597726C>A							p.I248I	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			5	744	+			248					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.744C>A	CCDS12571.1																																																																																				0.557	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		7	327	1	0	1.02788e-11	1	1.09168e-11	7	327				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	181	0	0	0	1	0	6	181				
FRG1	2483	broad.mit.edu	37	4	190878596	190878596	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr4:190878596G>A	ENST00000226798.4	+	6	698	c.476G>A	c.(475-477)tGc>tAc	p.C159Y	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	159					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.C159Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTTATTAGATGCAATGAAGCA	0.368																																						ENST00000226798.4																			1	Substitution - Missense(1)	p.C159Y(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(475-477)tGc>tAc		FSHD region gene 1							24.0	26.0	25.0					4																	190878596		2173	4277	6450	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878596G>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.476G>A	4.37:g.190878596G>A	ENSP00000226798:p.Cys159Tyr					FRG1_ENST00000514482.1_3'UTR	p.C159Y	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	698	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	159					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.476G>A	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	9.077	0.998266	0.19043	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.42900	2.03;0.96	4.19	4.19	0.49359	Actin cross-linking (1);	0.048605	0.85682	D	0.000000	T	0.32912	0.0845	N	0.13140	0.3	0.44745	D	0.997744	P	0.42357	0.777	P	0.46850	0.529	T	0.07501	-1.0769	10	0.22706	T	0.39	-19.1697	14.4711	0.67517	0.0:0.0:1.0:0.0	.	159	Q14331	FRG1_HUMAN	Y	159;31;96	ENSP00000226798:C159Y;ENSP00000435943:C96Y	ENSP00000226798:C159Y	C	+	2	0	FRG1	191115590	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	6.069000	0.71209	2.063000	0.61619	0.454000	0.30748	TGC		0.368	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		6	201	0	0	0	1	0	6	201				
SI	6476	broad.mit.edu	37	3	164786914	164786914	+	Missense_Mutation	SNP	C	C	T	rs149498200		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:164786914C>T	ENST00000264382.3	-	4	387	c.325G>A	c.(325-327)Gtt>Att	p.V109I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	109	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGATTATCAACGAAGAAGCAC	0.363										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(325-327)Gtt>Att		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)	C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	71.0	69.0	70.0		325	5.9	0.2	3	dbSNP_134	70	0,8600		0,0,4300	no	missense	SI	NM_001041.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	109/1828	164786914	2,13004	2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164786914C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.325G>A	3.37:g.164786914C>T	ENSP00000264382:p.Val109Ile	HNSCC(35;0.089)					p.V109I	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			4	387	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	109			P-type 1.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.325G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.146805	0.37923	4.54E-4	0.0	ENSG00000090402	ENST00000264382	D	0.85171	-1.95	5.91	5.91	0.95273	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (3);	0.720617	0.14150	N	0.338066	T	0.82116	0.4967	L	0.57536	1.79	0.09310	N	1	P	0.35363	0.497	B	0.30029	0.11	T	0.77469	-0.2576	10	0.66056	D	0.02	.	13.0201	0.58781	0.2008:0.7992:0.0:0.0	.	109	P14410	SUIS_HUMAN	I	109	ENSP00000264382:V109I	ENSP00000264382:V109I	V	-	1	0	SI	166269608	0.005000	0.15991	0.209000	0.23619	0.343000	0.28985	1.081000	0.30791	2.802000	0.96397	0.655000	0.94253	GTT		0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		20	198	0	0	0	1	0	20	198				
PSMC6	5706	broad.mit.edu	37	14	53194224	53194224	+	Silent	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:53194224C>T	ENST00000606149.1	+	14	1075	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	STYX_ENST00000354586.4_5'Flank|PSMC6_ENST00000557557.1_3'UTR|STYX_ENST00000442123.2_5'Flank|PSMC6_ENST00000445930.2_Silent_p.F367F	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	353					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					CAGGTATGTTCGCAATTCGTG	0.323																																						ENST00000445930.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19						c.(1099-1101)ttC>ttT		proteasome (prosome, macropain) 26S subunit, ATPase, 6							62.0	56.0	58.0					14																	53194224		2203	4300	6503	SO:0001819	synonymous_variant	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53194224C>T		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.1059C>T	14.37:g.53194224C>T						PSMC6_ENST00000606149.1_Silent_p.F353F|PSMC6_ENST00000557557.1_3'UTR	p.F367F			P62333	PRS10_HUMAN			14	1107	+	Breast(41;0.176)		353					B2R975|P49719|Q6IBU3|Q92524	Silent	SNP	ENST00000606149.1	37	c.1101C>T																																																																																					0.323	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		6	173	0	0	0	1	0	6	173				
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						ENST00000327064.4																			2	Substitution - Missense(2)	p.A202V(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(604-606)gCc>gTc		coactivator-associated arginine methyltransferase 1							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	795	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		9	1145	0	0	0	1	0	9	1145				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	72	0	0	0	1	0	4	72				
RBM14	10432	broad.mit.edu	37	11	66392698	66392698	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:66392698G>A	ENST00000310137.4	+	2	1490	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	451	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCCTACGCCGCACAAGCCAC	0.617																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1351-1353)Gca>Aca		RNA binding motif protein 14							67.0	73.0	71.0					11																	66392698		2191	4273	6464	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392698G>A	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1351G>A	11.37:g.66392698G>A	ENSP00000311747:p.Ala451Thr					RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409738.4_Intron	p.A451T	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1490	+			451			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1351G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503682	0.44558	.	.	ENSG00000239306	ENST00000310137	D	0.83250	-1.7	5.75	5.75	0.90469	.	0.113754	0.64402	D	0.000012	D	0.84906	0.5576	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.86495	0.1800	10	0.72032	D	0.01	-2.6928	15.4418	0.75190	0.0:0.0:1.0:0.0	.	451	Q96PK6	RBM14_HUMAN	T	451	ENSP00000311747:A451T	ENSP00000311747:A451T	A	+	1	0	RBM14	66149274	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	3.650000	0.54424	2.720000	0.93068	0.655000	0.94253	GCA		0.617	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		8	790	0	0	0	1	0	8	790				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			9	640	0	0	0	1	0	9	640				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			8	220	0	0	0	1	0	8	220				
MAVS	57506	broad.mit.edu	37	20	3844972	3844972	+	Missense_Mutation	SNP	G	G	A	rs201823260		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr20:3844972G>A	ENST00000428216.2	+	6	823	c.695G>A	c.(694-696)cGt>cAt	p.R232H	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.R91H	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	232					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCCTGGCCCGTTCCACCCCC	0.622																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(694-696)cGt>cAt		mitochondrial antiviral signaling protein		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	71.0	68.0	69.0		272,695	4.7	0.8	20		69	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MAVS	NM_001206491.1,NM_020746.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	91/400,232/541	3844972	1,13005	2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3844972G>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.695G>A	20.37:g.3844972G>A	ENSP00000401980:p.Arg232His					MAVS_ENST00000416600.2_Missense_Mutation_p.R91H|MAVS_ENST00000358134.6_3'UTR	p.R232H	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			6	823	+			232					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.695G>A	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437866	0.83885	0.0	1.16E-4	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.55760	0.5;1.96	4.72	4.72	0.59763	.	0.780557	0.11868	N	0.521739	T	0.63450	0.2512	L	0.46157	1.445	0.30885	N	0.731009	D	0.76494	0.999	P	0.61003	0.882	T	0.62243	-0.6895	10	0.59425	D	0.04	-5.5757	13.4262	0.61026	0.0:0.0:1.0:0.0	.	232	Q7Z434	MAVS_HUMAN	H	91;232	ENSP00000413749:R91H;ENSP00000401980:R232H	ENSP00000413749:R91H	R	+	2	0	MAVS	3792972	0.901000	0.30685	0.753000	0.31225	0.997000	0.91878	4.000000	0.57039	2.634000	0.89283	0.650000	0.86243	CGT		0.622	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		6	405	0	0	0	1	0	6	405				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	0							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	405	0	0	0	1	0	8	405				
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																						ENST00000414583.2																			0																																																			0							g.chr22:24659578A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G								NR_003714.1						0	3103	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		6	116	0	0	0	1	0	6	116				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	389	0	0	0	1	0	8	389				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr15:20170029C>T	ENST00000338912.5	-	0	242									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CCTGGAACTTCTGTGCATAGC	0.547																																						ENST00000338912.5																			0																				159.0	154.0	156.0					15																	20170029		2104	4233	6337			0							g.chr15:20170029C>T	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170029C>T														0	242	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			7	578	0	0	0	1	0	7	578				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	178	0	0	0	1	0	6	178				
CRNN	49860	broad.mit.edu	37	1	152382749	152382749	+	Missense_Mutation	SNP	G	G	A	rs3814301		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:152382749G>A	ENST00000271835.3	-	3	871	c.809C>T	c.(808-810)aCc>aTc	p.T270I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	270	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCGTGGGTCTCAGTCCC	0.612																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(808-810)aCc>aTc		cornulin							260.0	258.0	259.0					1																	152382749		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382749G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.809C>T	1.37:g.152382749G>A	ENSP00000271835:p.Thr270Ile					RP1-91G5.3_ENST00000411804.1_RNA	p.T270I	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	871	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		270			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.809C>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	0.808	-0.753180	0.03041	.	.	ENSG00000143536	ENST00000271835	T	0.05081	3.5	4.62	-2.55	0.06288	.	1.825870	0.02459	N	0.086358	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	10	0.25751	T	0.34	.	6.7479	0.23472	0.4196:0.1215:0.4589:0.0	.	270	Q9UBG3	CRNN_HUMAN	I	270	ENSP00000271835:T270I	ENSP00000271835:T270I	T	-	2	0	CRNN	150649373	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.781000	0.04648	-0.647000	0.05444	-2.160000	0.00327	ACC		0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		8	1087	0	0	0	1	0	8	1087				
POLD1	5424	broad.mit.edu	37	19	50909518	50909518	+	Missense_Mutation	SNP	C	C	T	rs376711125		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:50909518C>T	ENST00000440232.2	+	11	1375	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	POLD1_ENST00000595904.1_Missense_Mutation_p.T441M|POLD1_ENST00000599857.1_Missense_Mutation_p.T441M	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	441					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCCAAGCAGACGGGCCGGCGG	0.622								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1321-1323)aCg>aTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit		C	MET/THR	0,4406		0,0,2203	68.0	72.0	70.0		1322	-2.9	0.7	19		70	2,8598	2.2+/-6.3	0,2,4298	no	missense	POLD1	NM_002691.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	441/1108	50909518	2,13004	2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50909518C>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1322C>T	19.37:g.50909518C>T	ENSP00000406046:p.Thr441Met					POLD1_ENST00000599857.1_Missense_Mutation_p.T441M|POLD1_ENST00000595904.1_Missense_Mutation_p.T441M	p.T441M	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	11	1375	+		all_neural(266;0.0571)	441					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.1322C>T	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	C	2.450	-0.326515	0.05350	0.0	2.33E-4	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.16073	2.37	4.54	-2.9	0.05648	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.206121	0.46758	N	0.000280	T	0.01835	0.0058	N	0.00061	-2.33	0.23010	N	0.998434	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.43196	-0.9406	10	0.02654	T	1	-18.2908	6.7083	0.23262	0.1254:0.5005:0.0:0.3741	.	441;441	E7EVW0;P28340	.;DPOD1_HUMAN	M	441;442	ENSP00000406046:T441M	ENSP00000366129:T442M	T	+	2	0	POLD1	55601330	0.997000	0.39634	0.675000	0.29917	0.992000	0.81027	1.237000	0.32695	-0.404000	0.07610	-0.302000	0.09304	ACG		0.622	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			6	383	0	0	0	1	0	6	383				
THBS1	7057	broad.mit.edu	37	15	39884787	39884787	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr15:39884787C>T	ENST00000260356.5	+	17	2716	c.2551C>T	c.(2551-2553)Cgc>Tgc	p.R851C	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	851					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGACTCAGACCGCATTGGAGA	0.453																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2551-2553)Cgc>Tgc		thrombospondin 1	Becaplermin(DB00102)						48.0	42.0	44.0					15																	39884787		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39884787C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2551C>T	15.37:g.39884787C>T	ENSP00000260356:p.Arg851Cys						p.R851C	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	17	2716	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	851					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.2551C>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345471	0.82022	.	.	ENSG00000137801	ENST00000260356	D	0.98400	-4.91	5.0	5.0	0.66597	.	0.492001	0.15344	N	0.267319	D	0.98510	0.9503	L	0.58101	1.795	0.58432	D	0.999996	B;D	0.89917	0.151;1.0	B;D	0.63381	0.075;0.914	D	0.99748	1.1017	10	0.66056	D	0.02	-5.5658	18.6342	0.91371	0.0:1.0:0.0:0.0	.	766;851	B4E3J7;P07996	.;TSP1_HUMAN	C	851	ENSP00000260356:R851C	ENSP00000260356:R851C	R	+	1	0	THBS1	37672079	0.997000	0.39634	0.999000	0.59377	0.996000	0.88848	6.081000	0.71309	2.474000	0.83562	0.655000	0.94253	CGC		0.453	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		4	94	0	0	0	1	0	4	94				
ADAM21	8747	broad.mit.edu	37	14	70924812	70924812	+	Missense_Mutation	SNP	C	C	T	rs370238293		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:70924812C>T	ENST00000603540.1	+	2	854	c.596C>T	c.(595-597)tCt>tTt	p.S199F	ADAM21_ENST00000267499.3_Missense_Mutation_p.S199F|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	199					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAACCAAAATCTGCTGGTGAC	0.448																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(595-597)tCt>tTt		ADAM metallopeptidase domain 21							74.0	76.0	75.0					14																	70924812		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924812C>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.596C>T	14.37:g.70924812C>T	ENSP00000474385:p.Ser199Phe					ADAM21_ENST00000267499.3_Missense_Mutation_p.S199F|RP11-486O13.4_ENST00000556646.1_lincRNA	p.S199F	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	854	+			199					O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.596C>T	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043355	0.19748	.	.	ENSG00000139985	ENST00000267499	T	0.01215	5.16	3.49	3.49	0.39957	.	0.378699	0.19013	U	0.125029	T	0.02230	0.0069	M	0.68593	2.085	0.26948	N	0.966098	B	0.32876	0.388	B	0.37422	0.249	T	0.24764	-1.0151	10	0.40728	T	0.16	.	10.6601	0.45698	0.0:1.0:0.0:0.0	.	199	Q9UKJ8	ADA21_HUMAN	F	199	ENSP00000267499:S199F	ENSP00000267499:S199F	S	+	2	0	ADAM21	69994565	0.001000	0.12720	0.813000	0.32504	0.022000	0.10575	0.380000	0.20602	1.947000	0.56498	0.557000	0.71058	TCT		0.448	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			5	359	0	0	0	1	0	5	359				
KRTAP4-11	653240	broad.mit.edu	37	17	39274214	39274214	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:39274214G>C	ENST00000391413.2	-	1	392	c.354C>G	c.(352-354)agC>agG	p.S118R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	118	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				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)			gtctgcagcagctggacacac	0.652																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(352-354)agC>agG		keratin associated protein 4-11							4.0	8.0	7.0					17																	39274214		642	1521	2163	SO:0001583	missense	653240					keratin filament		g.chr17:39274214G>C	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.354C>G	17.37:g.39274214G>C	ENSP00000375232:p.Ser118Arg						p.S118R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	392	-		Breast(137;0.000496)	118			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.354C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.702454	0.30232	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.63	2.63	0.31362	.	.	.	.	.	T	0.05914	0.0154	M	0.92691	3.335	0.25757	N	0.984995	B	0.18166	0.026	B	0.19391	0.025	T	0.23013	-1.0200	9	0.37606	T	0.19	.	5.3088	0.15819	0.1185:0.2126:0.6689:0.0	.	118	Q9BYQ6	KR411_HUMAN	R	118	ENSP00000375232:S118R	ENSP00000375232:S118R	S	-	3	2	KRTAP4-11	36527740	0.000000	0.05858	0.722000	0.30670	0.015000	0.08874	0.147000	0.16202	0.630000	0.30394	-0.413000	0.06143	AGC		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	204	0	0	0	1	0	5	204				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		6	201	0	0	0	1	0	6	201				
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1																			6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)																																																0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C														0	1111	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		5	344	0	0	0	1	0	5	344				
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:155255062C>G	ENST00000461007.1	+	0	3978				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CACCTTCCCCCCCAGACCCAG	0.627																																						ENST00000285718.7																			0																																																			0							g.chrX:155255062C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255062C>G						WASH6P_ENST00000461007.1_RNA								0	1367	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.627	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		6	129	0	0	0	1	0	6	129				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	162	0	0	0	1	0	5	162				
WASH6P	653440	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:155255043G>A	ENST00000461007.1	+	0	3959				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000285718.7																			0																																																			0							g.chrX:155255043G>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255043G>A						WASH6P_ENST00000461007.1_RNA								0	1348	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.642	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		6	118	0	0	0	1	0	6	118				
RHBDF1	64285	broad.mit.edu	37	16	108512	108512	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:108512G>A	ENST00000262316.6	-	18	2537	c.2395C>T	c.(2395-2397)Cgg>Tgg	p.R799W		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	799					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CAGCGTTTCCGGTACAGGTCG	0.552																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(2395-2397)Cgg>Tgg		rhomboid 5 homolog 1 (Drosophila)							148.0	160.0	156.0					16																	108512		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:108512G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2395C>T	16.37:g.108512G>A	ENSP00000262316:p.Arg799Trp						p.R799W	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			18	2537	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	799					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.2395C>T	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	15.51	2.856054	0.51376	.	.	ENSG00000007384	ENST00000262316	T	0.55930	0.49	5.07	4.11	0.48088	.	0.052909	0.85682	D	0.000000	T	0.53465	0.1798	M	0.81942	2.565	0.80722	D	1	P	0.51449	0.945	B	0.42188	0.379	T	0.60875	-0.7176	10	0.87932	D	0	-26.6161	8.6392	0.33968	0.0821:0.0:0.7579:0.16	.	799	Q96CC6	RHDF1_HUMAN	W	799	ENSP00000262316:R799W	ENSP00000262316:R799W	R	-	1	2	RHBDF1	48512	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	7.637000	0.83313	1.270000	0.44297	-0.229000	0.12294	CGG		0.552	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		29	551	0	0	0	1	0	29	551				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							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			7	348	0	0	0	1	0	7	348				
SDK1	221935	broad.mit.edu	37	7	4119186	4119186	+	Silent	SNP	G	G	A	rs377121090		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:4119186G>A	ENST00000404826.2	+	22	3433	c.3294G>A	c.(3292-3294)acG>acA	p.T1098T	SDK1_ENST00000389531.3_Silent_p.T1098T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1098	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACGGGAAAACGTCCATCTCCA	0.572																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3292-3294)acG>acA		sidekick cell adhesion molecule 1							147.0	127.0	134.0					7																	4119186		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4119186G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3294G>A	7.37:g.4119186G>A						SDK1_ENST00000389531.3_Silent_p.T1098T	p.T1098T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	22	3433	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1098			Fibronectin type-III 5.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3294G>A	CCDS34590.1																																																																																				0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		7	468	0	0	0	1	0	7	468				
KCNJ6	3763	broad.mit.edu	37	21	39087258	39087258	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr21:39087258C>T	ENST00000609713.1	-	3	791	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	KCNJ6_ENST00000288309.6_Missense_Mutation_p.G68S|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	68					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CTCACGTTGCCGTGATGAACA	0.488																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(202-204)Ggc>Agc		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						262.0	246.0	251.0					21																	39087258		2047	4181	6228	SO:0001583	missense	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39087258C>T	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.202G>A	21.37:g.39087258C>T	ENSP00000477437:p.Gly68Ser					KCNJ6_ENST00000288309.6_Missense_Mutation_p.G68S	p.G68S	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			3	791	-			68					Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	c.202G>A	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941544	0.73557	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.93659	-3.26;-3.26	5.95	5.95	0.96441	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.96463	0.8846	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94767	0.7941	10	0.33141	T	0.24	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	68	P48051	IRK6_HUMAN	S	68	ENSP00000383330:G68S;ENSP00000288309:G68S	ENSP00000288309:G68S	G	-	1	0	KCNJ6	38009128	1.000000	0.71417	0.994000	0.49952	0.624000	0.37722	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GGC		0.488	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		23	560	0	0	0	1	0	23	560				
TIMM50	92609	broad.mit.edu	37	19	39971399	39971399	+	5'Flank	SNP	A	A	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:39971399A>C	ENST00000607714.1	+	0	0				TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000599794.1_5'Flank|TIMM50_ENST00000314349.4_Missense_Mutation_p.H72P			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCTTCCGTCCACCCGCCCCTC	0.697																																						ENST00000314349.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(214-216)cAc>cCc		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							24.0	29.0	28.0					19																	39971399		2197	4300	6497	SO:0001631	upstream_gene_variant	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39971399A>C	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8			19.37:g.39971399A>C	Exception_encountered						p.H72P	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	348	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		47					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.215A>C		.	.	.	.	.	.	.	.	.	.	A	11.34	1.610993	0.28712	.	.	ENSG00000105197	ENST00000314349	.	.	.	3.79	-5.34	0.02705	.	0.896444	0.09581	N	0.782788	T	0.28466	0.0704	N	0.08118	0	0.33969	D	0.646621	B	0.25105	0.118	B	0.25884	0.064	T	0.28744	-1.0034	8	.	.	.	-2.5013	14.058	0.64781	0.2434:0.0:0.7566:0.0	.	72	Q3ZCQ8-2	.	P	72	.	.	H	+	2	0	TIMM50	44663239	0.013000	0.17824	0.005000	0.12908	0.060000	0.15804	-0.673000	0.05239	-1.401000	0.02058	-0.609000	0.04063	CAC		0.697	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		12	75	0	0	0	1	0	12	75				
SMAD4	4089	broad.mit.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	rs80338963		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413																																						ENST00000342988.3																			43	Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)	pancreas(26)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|small_intestine(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM040450|CM041789|CM981228	SMAD4	M	rs80338963	c.(1081-1083)Cgc>Tgc		SMAD family member 4							179.0	149.0	159.0					18																	48591918		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591918C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1081C>T	18.37:g.48591918C>T	ENSP00000341551:p.Arg361Cys					SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1619	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	361		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1081C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820743	0.90873	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98164	-4.76;-4.76	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.94021	3.485	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	361	Q13485	SMAD4_HUMAN	C	361	ENSP00000341551:R361C;ENSP00000381452:R361C	ENSP00000341551:R361C	R	+	1	0	SMAD4	46845916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		10	287	0	0	0	1	0	10	287				
WDR82	80335	broad.mit.edu	37	3	52292632	52292632	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:52292632C>A	ENST00000296490.3	-	8	1113	c.832G>T	c.(832-834)Gat>Tat	p.D278Y		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	278					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGTTTACCATCCAACACAGCT	0.448																																						ENST00000296490.3																			0											c.(832-834)Gat>Tat		WD repeat domain 82							171.0	159.0	163.0					3																	52292632		1955	4145	6100	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52292632C>A	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.832G>T	3.37:g.52292632C>A	ENSP00000296490:p.Asp278Tyr						p.D278Y	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	8	1113	-			278					A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.832G>T	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143216	0.77888	.	.	ENSG00000164091	ENST00000296490	T	0.18502	2.21	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.31065	0.9	0.80722	D	1	P	0.45531	0.86	P	0.57009	0.811	T	0.00708	-1.1600	10	0.66056	D	0.02	-12.5223	20.1957	0.98242	0.0:1.0:0.0:0.0	.	278	Q6UXN9	WDR82_HUMAN	Y	278	ENSP00000296490:D278Y	ENSP00000296490:D278Y	D	-	1	0	WDR82	52267672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.581000	0.82535	2.780000	0.95670	0.563000	0.77884	GAT		0.448	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222		31	485	1	0	1.88708e-17	1	2.03224e-17	31	485				
IFNL3	282617	broad.mit.edu	37	19	39735442	39735442	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:39735442C>T	ENST00000413851.2	-	1	204	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	56					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GCATCTTTGGCCCTCTTAAAG	0.622																																						ENST00000413851.2																			0											c.(166-168)Gcc>Acc		interferon, lambda 3							21.0	23.0	23.0					19																	39735442		2203	4292	6495	SO:0001583	missense	282617							g.chr19:39735442C>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.166G>A	19.37:g.39735442C>T	ENSP00000409000:p.Ala56Thr						p.A56T	NM_172139.2	NP_742151.2					1	204	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.166G>A	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817179	0.32145	.	.	ENSG00000197110	ENST00000413851	T	0.36699	1.24	2.97	2.97	0.34412	.	0.260216	0.27509	N	0.019046	T	0.33876	0.0878	M	0.67700	2.07	0.30374	N	0.782632	B	0.25105	0.118	B	0.21360	0.034	T	0.39187	-0.9626	10	0.51188	T	0.08	-6.9809	9.5565	0.39341	0.0:1.0:0.0:0.0	.	56	Q8IZI9	IL28B_HUMAN	T	56	ENSP00000409000:A56T	ENSP00000409000:A56T	A	-	1	0	IL28B	44427282	0.052000	0.20516	0.529000	0.27951	0.663000	0.39108	0.475000	0.22164	1.697000	0.51169	0.194000	0.17425	GCC		0.622	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		4	161	0	0	0	1	0	4	161				
IGHV4-61	28391	broad.mit.edu	37	14	107095454	107095454	+	RNA	SNP	A	A	G	rs199512044	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:107095454A>G	ENST00000390630.2	-	0	147				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		AGAGACCCACAGTGAGCCCTG	0.617																																						ENST00000390630.2																			0																				19.0	36.0	31.0					14																	107095454		1772	4034	5806			0							g.chr14:107095454A>G	M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095454A>G														0	147	-									RNA	SNP	ENST00000390630.2	37																																																																																						0.617	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324623.1	NG_001019		5	154	0	0	0	1	0	5	154				
FBXO6	26270	broad.mit.edu	37	1	11728956	11728956	+	Silent	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:11728956C>T	ENST00000376753.4	+	2	376	c.241C>T	c.(241-243)Cta>Tta	p.L81L		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	81	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTACTTCCTACGGAGCCT	0.602																																					NSCLC(54;506 1562 46490 51389)	ENST00000376753.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6						c.(241-243)Cta>Tta		F-box protein 6							53.0	59.0	57.0					1																	11728956		2203	4300	6503	SO:0001819	synonymous_variant	26270				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding	g.chr1:11728956C>T	AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"""F-boxes /  ""other"""""	13585	protein-coding gene	gene with protein product		605647	"""F-box only protein 6"""			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.241C>T	1.37:g.11728956C>T							p.L81L	NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	2	376	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	81			FBA.		B1AK42|B2RC88|Q9UKT3	Silent	SNP	ENST00000376753.4	37	c.241C>T	CCDS133.1																																																																																				0.602	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438		6	273	0	0	0	1	0	6	273				
MST1L	11223	broad.mit.edu	37	1	17083808	17083808	+	RNA	SNP	G	G	A	rs140260478	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:17083808G>A	ENST00000455405.2	-	0	780							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GCGACCTTGTGCATACTCGGT	0.562													.|||	293	0.0585064	0.0802	0.0648	5008	,	,		26767	0.0357		0.0477	False		,,,				2504	0.0593					ENST00000455405.2																			0																																																			0							g.chr1:17083808G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083808G>A														0	780	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.562	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		6	111	0	0	0	1	0	6	111				
ALG1L2	644974	broad.mit.edu	37	3	129817105	129817105	+	RNA	SNP	A	A	G			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:129817105A>G	ENST00000507643.1	+	0	687				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										CTGATCCTGAAGGCAAGCTAA	0.527																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817105A>G	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817105A>G										C9J202	AG1L2_HUMAN			0	687	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.527	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		9	170	0	0	0	1	0	9	170				
COQ9	57017	broad.mit.edu	37	16	57486804	57486804	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:57486804C>T	ENST00000262507.6	+	3	403	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	112					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.P112S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGAGTTTGTGCCCGCCCACGG	0.592																																						ENST00000262507.6																			2	Substitution - Missense(2)	p.P112S(2)	lung(1)|prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(334-336)Ccc>Tcc		coenzyme Q9							107.0	93.0	98.0					16																	57486804		2198	4300	6498	SO:0001583	missense	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486804C>T	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.334C>T	16.37:g.57486804C>T	ENSP00000262507:p.Pro112Ser					COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S	p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	403	+			112					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	c.334C>T	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697474	0.88830	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.69185	2.1	0.58432	D	0.999995	D;P;D;P;D	0.89917	1.0;0.811;1.0;0.816;1.0	D;P;D;B;D	0.97110	0.999;0.554;0.999;0.288;1.0	T	0.79902	-0.1607	9	0.59425	D	0.04	-10.8459	17.3209	0.87235	0.0:1.0:0.0:0.0	.	112;112;112;112;112	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	S	112	.	ENSP00000262507:P112S	P	+	1	0	COQ9	56044305	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	7.783000	0.85696	2.325000	0.78763	0.650000	0.86243	CCC		0.592	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		10	380	0	0	0	1	0	10	380				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	171	0	0	0	1	0	5	171				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		5	307	0	0	0	1	0	5	307				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		8	197	0	0	0	1	0	8	197				
FNBP1	23048	broad.mit.edu	37	9	132662311	132662311	+	Silent	SNP	G	G	A	rs138991769	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:132662311G>A	ENST00000446176.2	-	15	1806	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	FNBP1_ENST00000355681.3_Silent_p.D511D|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000420781.1_Silent_p.D531D|FNBP1_ENST00000443566.2_Silent_p.D168D	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	540	Interaction with DNM1 and DNM3.|Interaction with PDE6G. {ECO:0000250}.|Interaction with RND2. {ECO:0000250}.|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CAAACTCGTCGTCAAAATCCG	0.507			T	MLL	AML								G|||	15	0.00299521	0.0113	0.0	5008	,	,		15608	0.0		0.0	False		,,,				2504	0.0					ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.(1591-1593)gaC>gaT		formin binding protein 1		G		25,4059		0,25,2017	123.0	124.0	124.0		1620	-4.3	0.2	9	dbSNP_134	124	1,8385		0,1,4192	no	coding-synonymous	FNBP1	NM_015033.2		0,26,6209	AA,AG,GG		0.0119,0.6121,0.2085		540/618	132662311	26,12444	2042	4193	6235	SO:0001819	synonymous_variant	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132662311G>A	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1620C>T	9.37:g.132662311G>A						FNBP1_ENST00000443566.2_Silent_p.D168D|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000446176.2_Silent_p.D540D|FNBP1_ENST00000355681.3_Silent_p.D511D	p.D531D			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	15	1811	-		Ovarian(14;0.000536)	540			Interaction with PDE6G (By similarity).|Interaction with RND2 (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Silent	SNP	ENST00000446176.2	37	c.1593C>T	CCDS48040.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	7.682	0.689202	0.14973	0.006121	1.19E-4	ENSG00000187239	ENST00000449089	.	.	.	4.98	-4.27	0.03744	.	.	.	.	.	T	0.55049	0.1896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61608	-0.7028	4	.	.	.	-27.8124	14.3521	0.66711	0.641:0.0:0.359:0.0	.	.	.	.	M	492	.	.	T	-	2	0	FNBP1	131702132	0.000000	0.05858	0.181000	0.23098	0.939000	0.58152	-1.892000	0.01610	-0.781000	0.04548	-0.390000	0.06520	ACG		0.507	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			6	359	0	0	0	1	0	6	359				
FIGN	55137	broad.mit.edu	37	2	164466403	164466403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:164466403G>A	ENST00000333129.3	-	3	2253	c.1939C>T	c.(1939-1941)Cga>Tga	p.R647*	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	647					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATTAAAAGTCGTTTCATGAAG	0.443																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1939-1941)Cga>Tga		fidgetin							99.0	97.0	98.0					2																	164466403		2014	4168	6182	SO:0001587	stop_gained	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466403G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1939C>T	2.37:g.164466403G>A	ENSP00000333836:p.Arg647*					FIGN_ENST00000409634.1_Intron	p.R647*	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	2253	-			647					B3KWM0|Q9H6M5|Q9NVZ9	Nonsense_Mutation	SNP	ENST00000333129.3	37	c.1939C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	39	7.338110	0.98221	.	.	ENSG00000182263	ENST00000333129	.	.	.	5.77	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.9622	13.5518	0.61736	0.0:0.0:0.708:0.292	.	.	.	.	X	647	.	ENSP00000333836:R647X	R	-	1	2	FIGN	164174649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.912000	0.56386	1.382000	0.46385	0.467000	0.42956	CGA		0.443	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		22	355	0	0	0	1	0	22	355				
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2407-2409)gfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255142_16255143delGA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2407_2408delGA	1.37:g.16255152_16255153delGA	ENSP00000364912:p.Glu803fs						p.E803fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2611_2612	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	803			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.2407_2408delGA	CCDS164.1																																																																																				0.431	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		7	477						7	477	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16946455	16946456	+	lincRNA	INS	-	-	GCTCACGCTGCA			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:16946455_16946456insGCTCACGCTGCA	ENST00000412962.1	-	0	1063_1064				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CAGCTCCTCCTGCTCACGCTGC	0.678																																						ENST00000412962.1																			0																																																			0							g.chr1:16946455_16946456insGCTCACGCTGCA	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.16946455_16946456insGCTCACGCTGCA														0	1063_1064	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.678	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	100						7	100	---	---	---	---
B4GALT2	8704	broad.mit.edu	37	1	44455987	44455988	+	Frame_Shift_Ins	INS	-	-	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:44455987_44455988insC	ENST00000356836.6	+	7	1776_1777	c.986_987insC	c.(985-990)aacacgfs	p.T330fs	B4GALT2_ENST00000434555.2_Frame_Shift_Ins_p.T264fs|CCDC24_ENST00000372318.3_5'Flank|B4GALT2_ENST00000372324.1_Frame_Shift_Ins_p.T330fs|B4GALT2_ENST00000309519.7_Frame_Shift_Ins_p.T359fs	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	330					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	AAGATTCAAAACACGAAGCTGA	0.465																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(985-987)aacfs		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)																																			SO:0001589	frameshift_variant	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44455987_44455988insC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.987dupC	1.37:g.44455988_44455988dupC	ENSP00000349293:p.Thr330fs					B4GALT2_ENST00000372324.1_Frame_Shift_Ins_p.N329fs|B4GALT2_ENST00000434555.2_Frame_Shift_Ins_p.N263fs|B4GALT2_ENST00000309519.7_Frame_Shift_Ins_p.N358fs	p.N329fs	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			7	1776_1777	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	329					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Frame_Shift_Ins	INS	ENST00000356836.6	37	c.986_987insC	CCDS506.1																																																																																				0.465	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	1787						7	1787	---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67390426	67390426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:67390426delT	ENST00000371026.3	-	1	144	c.89delA	c.(88-90)aagfs	p.K30fs	WDR78_ENST00000371023.3_Frame_Shift_Del_p.K30fs|MIER1_ENST00000371012.2_5'Flank|MIER1_ENST00000371016.1_5'Flank|MIER1_ENST00000371018.3_5'Flank|MIER1_ENST00000371014.1_5'Flank|MIER1_ENST00000401041.1_5'Flank|MIER1_ENST00000355977.6_5'Flank|WDR78_ENST00000431318.1_5'UTR|MIER1_ENST00000357692.2_5'Flank|WDR78_ENST00000371022.3_Frame_Shift_Del_p.K30fs	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	30					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCACCACCCCTTTTTTTGGCC	0.622																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(88-90)agfs		WD repeat domain 78							98.0	98.0	98.0					1																	67390426		2203	4300	6503	SO:0001589	frameshift_variant	79819							g.chr1:67390426delT	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.89delA	1.37:g.67390426delT	ENSP00000360065:p.Lys30fs					WDR78_ENST00000371023.3_Frame_Shift_Del_p.K30fs|WDR78_ENST00000371022.3_Frame_Shift_Del_p.K30fs|WDR78_ENST00000431318.1_5'UTR	p.K30fs	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			1	144	-			30					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Frame_Shift_Del	DEL	ENST00000371026.3	37	c.89delA	CCDS635.1																																																																																				0.622	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		9	635						9	635	---	---	---	---
LRRC53	100144878	broad.mit.edu	37	1	74957824	74957826	+	Intron	DEL	CTT	CTT	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1.0			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			12	919						12	919	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	lincRNA	INS	-	-	TT	rs57730437|rs371916849		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:121137698_121137699insTT	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							CTACTTACATCTTTTTGTCTTT	0.441																																						ENST00000437515.1																			0																																																			0							g.chr1:121137698_121137699insTT																													1.37:g.121137701_121137702dupTT														0	329	-									RNA	INS	ENST00000417218.1	37																																																																																						0.441	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			11	152						11	152	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142716575	142716578	+	lincRNA	DEL	AAAC	AAAC	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:142716575_142716578delAAAC	ENST00000610091.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422																																						ENST00000595144.1																			0																																																			0							g.chr1:142716575_142716578delAAAC																													1.37:g.142716583_142716586delAAAC														0	418	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.422	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			10	263						10	263	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-	rs149440400		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:154680586_154680588delGCT	ENST00000271915.4	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)cagctc>ctc	p.Q687del	KCNN3_ENST00000361147.4_In_Frame_Del_p.Q382del|KCNN3_ENST00000358505.2_In_Frame_Del_p.Q374del|KCNN3_ENST00000515643.1_5'UTR	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	692					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GCAGACAGGAGCTGCTGCTGCTG	0.64																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(2059-2064)ctc>c		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154680586_154680588delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.2060_2062delAGC	1.37:g.154680595_154680597delGCT	ENSP00000271915:p.Gln687del					KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000515643.1_5'UTR	p.QL687del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		8	2375_2377	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		692					B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.2060_2062delAGC	CCDS30880.1																																																																																				0.640	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		7	498						7	498	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2092-2094)cafs		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)			61,4205		23,15,2095	67.0	69.0	68.0			3.8	1.0	1		69	81,8173		35,11,4081	no	frameshift	MTR	NM_000254.2		58,26,6176	A1A1,A1R,RR		0.9813,1.4299,1.1342			237024474	142,12378	2203	4300	6503	SO:0001589	frameshift_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024474delA	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2093delA	1.37:g.237024474delA	ENSP00000355536:p.Gln698fs					MTR_ENST00000535889.1_Intron	p.Q698fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2487	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	698			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL	ENST00000366577.5	37	c.2093delA	CCDS1614.1																																																																																				0.308	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		8	379						8	379	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)atafs	p.I410fs	SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	410					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1228-1230)tafs		structural maintenance of chromosomes 6							82.0	78.0	80.0					2																	17898126		2203	4297	6500	SO:0001589	frameshift_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17898126delT	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1228delA	2.37:g.17898126delT	ENSP00000404092:p.Ile410fs					SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs	p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			14	1497	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		410					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Frame_Shift_Del	DEL	ENST00000448223.2	37	c.1228delA	CCDS1690.1																																																																																				0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		9	250						9	250	---	---	---	---
WBP1	23559	broad.mit.edu	37	2	74687550	74687550	+	Frame_Shift_Del	DEL	T	T	-	rs8469	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:74687550delT	ENST00000233615.2	+	4	826	c.552delT	c.(550-552)cctfs	p.P184fs	MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000393972.3_Frame_Shift_Del_p.P218fs|WBP1_ENST00000409737.1_Frame_Shift_Del_p.P181fs	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	184							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GTGCCCCCCCTCATCAGGAGG	0.612																																						ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(652-654)ccfs		WW domain binding protein 1							52.0	70.0	64.0					2																	74687550		2203	4299	6502	SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74687550delT	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.552delT	2.37:g.74687550delT	ENSP00000233615:p.Pro184fs					WBP1_ENST00000409737.1_Frame_Shift_Del_p.P181fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000233615.2_Frame_Shift_Del_p.P184fs	p.P218fs			Q96G27	WBP1_HUMAN			5	857	+			184					B2RE02|O95637	Frame_Shift_Del	DEL	ENST00000233615.2	37	c.654delT	CCDS1943.1																																																																																				0.612	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		10	638						10	638	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		7	943						7	943	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					ENST00000175756.5																			1	Deletion - In frame(1)	p.T378_G379delTG(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1111-1119)cag>ca		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	p.QTG371del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		371					B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			9	15						9	15	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:42679035_42679036insC	ENST00000232978.8	+	13	2027_2028	c.1839_1840insC	c.(1840-1842)cccfs	p.P614fs	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	614					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(1837-1842)agccccfs		natural killer-tumor recognition sequence																																				SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679035_42679036insC		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1847dupC	3.37:g.42679043_42679043dupC	ENSP00000232978:p.Pro614fs					RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	p.SP613fs	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2027_2028	+			613						Frame_Shift_Ins	INS	ENST00000232978.8	37	c.1839_1840insC	CCDS2702.1																																																																																				0.421	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		10	955						10	955	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)gagdel	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(220-222)del		vestigial like 3 (Drosophila)				1,38,3879		0,0,1,6,26,1926						5.1	1.0			64	3,85,7944		0,0,3,22,41,3950	no	codingComplex	VGLL3	NM_016206.2		0,0,4,28,67,5876	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0956,0.9954,1.0628				4,123,11823				SO:0001651	inframe_deletion	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027857_87027859delCTC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.220_222delGAG	3.37:g.87027866_87027868delCTC	ENSP00000381436:p.Glu74del					VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	583_585	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	74						In_Frame_Del	DEL	ENST00000398399.2	37	c.220_222delGAG	CCDS43110.1																																																																																				0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		7	179						7	179	---	---	---	---
OR5H8	79289	broad.mit.edu	37	3	98031434	98031434	+	lincRNA	DEL	A	A	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333																																						ENST00000508616.1																			0																																																			0							g.chr3:98031434delA																													3.37:g.98031434delA						OR5H8P_ENST00000394191.2_RNA								0	149	+									RNA	DEL	ENST00000508616.1	37																																																																																						0.333	RP11-325B23.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359282.1			13	129						13	129	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			9	970						9	970	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85611708	85611709	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr4:85611708_85611709delCA	ENST00000295888.4	-	61	9720_9721	c.9313_9314delTG	c.(9313-9315)tggfs	p.W3105fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.W3088fs|RN7SL552P_ENST00000462094.2_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3105	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCCATCTCCCACACACACACA	0.51																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9262-9264)gfs		WD repeat and FYVE domain containing 3																																				SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85611708_85611709delCA	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9313_9314delTG	4.37:g.85611718_85611719delCA	ENSP00000295888:p.Trp3105fs					WDFY3_ENST00000295888.4_Frame_Shift_Del_p.W3105fs	p.W3088fs			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	60	9669_9670	-		Hepatocellular(203;0.114)	3105					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	c.9262_9263delTG	CCDS3609.1																																																																																				0.510	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		8	352						8	352	---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89381265	89381266	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr4:89381265_89381266insA	ENST00000264350.3	+	3	562_563	c.409_410insA	c.(409-411)gaafs	p.E137fs	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	137					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CATTTTACAAGAAAAAAAAATA	0.272																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(409-411)aaafs		HECT and RLD domain containing E3 ubiquitin protein ligase 5																																				SO:0001589	frameshift_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89381265_89381266insA	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.418dupA	4.37:g.89381274_89381274dupA	ENSP00000264350:p.Glu137fs					HERC5_ENST00000508695.1_3'UTR	p.K137fs	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	3	562_563	+		Hepatocellular(203;0.114)	137					B2RTQ1|Q69G20	Frame_Shift_Ins	INS	ENST00000264350.3	37	c.409_410insA	CCDS3630.1																																																																																				0.272	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		8	240						8	240	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105412094	105412096	+	In_Frame_Del	DEL	GAG	GAG	-	rs146939312		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr4:105412094_105412096delGAG	ENST00000426831.1	-	1	371_373	c.357_359delCTC	c.(355-360)tcctcg>tcg	p.119_120SS>S	AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000394767.2_In_Frame_Del_p.288_289SS>S|AC004053.1_ENST00000500179.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	119	Poly-Ser.				negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.S120A(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGAGGAGGACGAGGAGGAGGAGG	0.606																																						ENST00000394767.2																			1	Substitution - Missense(1)	p.S120A(1)	large_intestine(1)	kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(862-867)tcg>tc		CXXC finger protein 4				3,4263		0,3,2130						2.7	1.0			75	7,8245		0,7,4119	no	coding	CXXC4	NM_025212.1		0,10,6249	A1A1,A1R,RR		0.0848,0.0703,0.0799				10,12508				SO:0001651	inframe_deletion	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412094_105412096delGAG		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.357_359delCTC	4.37:g.105412103_105412105delGAG	ENSP00000412267:p.Ser123del					AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000426831.1_In_Frame_Del_p.SS121del|CXXC4_ENST00000466963.1_Intron	p.SS290del	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1314_1316	-			121						In_Frame_Del	DEL	ENST00000426831.1	37	c.864_866delCTC																																																																																					0.606	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		7	319						7	319	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	0							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT						NPR3_ENST00000265074.8_3'UTR	p.GC105fs							1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		8	421						8	421	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31617055	31617055	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:31617055delG	ENST00000375964.6	-	4	657	c.344delC	c.(343-345)cctfs	p.P115fs	BAG6_ENST00000404765.2_Frame_Shift_Del_p.P115fs|BAG6_ENST00000375976.4_Frame_Shift_Del_p.P115fs|BAG6_ENST00000439687.2_Frame_Shift_Del_p.P115fs|BAG6_ENST00000211379.5_Frame_Shift_Del_p.P115fs|BAG6_ENST00000362049.6_Frame_Shift_Del_p.P115fs	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	115					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.P115fs*53(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCGAGTACCAGGGGGGGATCC	0.592																																						ENST00000404765.2																			1	Deletion - Frameshift(1)	p.P115fs*53(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(343-345)ctfs		BCL2-associated athanogene 6							88.0	103.0	98.0					6																	31617055		1511	2709	4220	SO:0001589	frameshift_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31617055delG	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.344delC	6.37:g.31617055delG	ENSP00000365131:p.Pro115fs					BAG6_ENST00000375976.4_Frame_Shift_Del_p.P115fs|BAG6_ENST00000439687.2_Frame_Shift_Del_p.P115fs|BAG6_ENST00000211379.5_Frame_Shift_Del_p.P115fs|BAG6_ENST00000375964.6_Frame_Shift_Del_p.P115fs|BAG6_ENST00000362049.6_Frame_Shift_Del_p.P115fs	p.P115fs			P46379	BAG6_HUMAN			4	633	-			115					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Frame_Shift_Del	DEL	ENST00000375964.6	37	c.344delC	CCDS47403.1																																																																																				0.592	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		7	483						7	483	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)aggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1570-1572)ggfs		zinc finger protein 318							215.0	222.0	219.0					6																	43323502		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323502delT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1570delA	6.37:g.43323502delT	ENSP00000354964:p.Arg526fs					ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1647	-			526					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.1570delA	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		8	1863						8	1863	---	---	---	---
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aaafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413																																						ENST00000332797.6																			2	Deletion - Frameshift(2)	p.N117fs*5(2)	large_intestine(2)	autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(343-345)aafs		coiled-coil domain containing 28A							112.0	108.0	109.0					6																	139097330		2203	4300	6503	SO:0001589	frameshift_variant	25901							g.chr6:139097330delA	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.343delA	6.37:g.139097330delA	ENSP00000332716:p.Lys116fs						p.K116fs	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	2	498	+			116					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Frame_Shift_Del	DEL	ENST00000332797.6	37	c.343delA	CCDS5192.1																																																																																				0.413	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		9	368						9	368	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:146350671_146350672insT	ENST00000282753.1	+	1	253_254	c.18_19insT	c.(19-21)tttfs	p.F7fs	GRM1_ENST00000392299.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.F7fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.F7fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	7					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCTCCTTTTGTTTTTTTTCCC	0.644																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(16-21)ttttttfs		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)		,	13,4249		0,13,2118					,	5.4	0.9			109	6,8248		0,6,4121	no	frameshift,frameshift	GRM1	NM_001114329.1,NM_000838.3	,	0,19,6239	A1A1,A1R,RR		0.0727,0.305,0.1518	,	,		19,12497				SO:0001589	frameshift_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350671_146350672insT	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.26dupT	6.37:g.146350679_146350679dupT	ENSP00000282753:p.Phe7fs					GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs	p.FF6fs			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	488_489	+		Ovarian(120;0.0387)	6					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Frame_Shift_Ins	INS	ENST00000282753.1	37	c.18_19insT	CCDS5209.1																																																																																				0.644	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	823						7	823	---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr6:151358163_151358164insA	ENST00000367321.3	+	26	3031_3032	c.2757_2758insA	c.(2758-2760)aaafs	p.K920fs	AL133260.1_ENST00000408542.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	920	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.48																																						ENST00000367321.3																			1	Deletion - Frameshift(1)	p.L914fs*14(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2755-2760)gaaaaafs		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like																																				SO:0001589	frameshift_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151358163_151358164insA	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2763dupA	6.37:g.151358169_151358169dupA	ENSP00000356290:p.Lys920fs						p.EK919fs	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	26	3031_3032	+		Ovarian(120;0.128)	919			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Frame_Shift_Ins	INS	ENST00000367321.3	37	c.2757_2758insA	CCDS5228.1																																																																																				0.480	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		8	428						8	428	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284925	38284934	+	RNA	DEL	TGTGACTGTG	TGTGACTGTG	-	rs375819662|rs376724176|rs369527599|rs371351064|rs147429736	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:38284925_38284934delTGTGACTGTG	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										tgagtgtgtctgtgactgtgtgtAATTAAA	0.371																																						ENST00000436911.2																			0																																																			0							g.chr7:38284925_38284934delTGTGACTGTG	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284925_38284934delTGTGACTGTG														0	330	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.371	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		9	141						9	141	---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94174999	94174999	+	Frame_Shift_Del	DEL	A	A	-	rs74907120		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:94174999delA	ENST00000297273.4	+	12	1906	c.1619delA	c.(1618-1620)caafs	p.Q540fs		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	540						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAATAATCCAAAAAAAAGCA	0.294																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(1618-1620)cafs		CAS1 domain containing 1							95.0	84.0	88.0					7																	94174999		2203	4299	6502	SO:0001589	frameshift_variant	64921					integral to membrane		g.chr7:94174999delA	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1619delA	7.37:g.94174999delA	ENSP00000297273:p.Gln540fs						p.Q540fs	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		12	1906	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		540					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Frame_Shift_Del	DEL	ENST00000297273.4	37	c.1619delA	CCDS5636.1																																																																																				0.294	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		7	208						7	208	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	266						7	266	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480397	73480397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr8:73480397delA	ENST00000523207.1	+	2	1016	c.428delA	c.(427-429)caafs	p.Q143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGATATCATCAAAAAAAAGAA	0.448																																						ENST00000523207.1																			1	Deletion - Frameshift(1)	p.E146fs*3(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(427-429)cafs		potassium voltage-gated channel, Shab-related subfamily, member 2							106.0	112.0	110.0					8																	73480397		2203	4300	6503	SO:0001589	frameshift_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480397delA	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.428delA	8.37:g.73480397delA	ENSP00000430846:p.Gln143fs						p.Q143fs	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1016	+	Breast(64;0.137)		143					Q7Z7D0|Q9BXD3	Frame_Shift_Del	DEL	ENST00000523207.1	37	c.428delA	CCDS6209.1																																																																																				0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		11	551						11	551	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G	rs375659563		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e36-1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455173_110455174insG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4394-1->G	8.37:g.110455175_110455175dupG		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4497	+								Q567P2|Q9UF27	Splice_Site	INS	ENST00000378402.5	37		CCDS47911.1																																																																																				0.322	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	8	396						8	396	---	---	---	---
ANXA13	312	broad.mit.edu	37	8	124707761	124707762	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr8:124707761_124707762insT	ENST00000419625.1	-	6	523_524	c.451_452insA	c.(451-453)atcfs	p.I151fs	ANXA13_ENST00000262219.6_Frame_Shift_Ins_p.I192fs	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	151					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AGACACCAGGATTTTTTTTAGG	0.411																																						ENST00000262219.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(574-576)cctfs		annexin A13																																				SO:0001589	frameshift_variant	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124707761_124707762insT	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.452dupA	8.37:g.124707769_124707769dupT	ENSP00000390809:p.Ile151fs					ANXA13_ENST00000419625.1_Frame_Shift_Ins_p.P151fs	p.P192fs	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	641_642	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		151					Q9BQR5	Frame_Shift_Ins	INS	ENST00000419625.1	37	c.574_575insA	CCDS47917.1																																																																																				0.411	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		9	820						9	820	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974777	21974780	+	Frame_Shift_Del	DEL	GCCA	GCCA	-	rs587782206		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr9:21974777_21974780delGCCA	ENST00000304494.5	-	1	317_320	c.47_50delTGGC	c.(46-51)ctggccfs	p.LA16fs	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	16			L -> P (in a biliary tract tumor and a familial melanoma).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCGGCCGTGGCCAGCCAGTCAGC	0.755		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1352	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(6)|Substitution - Missense(4)|Insertion - In frame(2)|Deletion - In frame(1)	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.A17fs*5(1)|p.L16_A17insAT(1)|p.S7_A19del(1)|p.A17T(1)|p.L16R(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(170)|central_nervous_system(164)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(35)|kidney(31)|pancreas(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM023346|CM980321	CDKN2A	M		c.(46-51)ccfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974777_21974780delGCCA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.47_50delTGGC	9.37:g.21974781_21974784delGCCA	ENSP00000307101:p.Leu16fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.LA16fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.LA16fs	p.LA16fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	317_320	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	16		L -> P (in a biliary tract tumor and a familial melanoma).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.47_50delTGGC	CCDS6510.1																																																																																				0.755	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		7	206						7	206	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		11	743						11	743	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6432090	6432092	+	In_Frame_Del	DEL	TCC	TCC	-	rs370763825|rs145320037		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:6432090_6432092delTCC	ENST00000609360.1	-	2	585_587	c.486_488delGGA	c.(484-489)gaggat>gat	p.E162del	APBB1_ENST00000389906.2_In_Frame_Del_p.E162del|APBB1_ENST00000299402.6_In_Frame_Del_p.E162del|APBB1_ENST00000311051.3_In_Frame_Del_p.E162del	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		atcatcatcatcctcctcctcct	0.635																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.E162D(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(484-489)gat>ga		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)																																				SO:0001651	inframe_deletion	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432090_6432092delTCC	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.486_488delGGA	11.37:g.6432099_6432101delTCC	ENSP00000477213:p.Glu162del					APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000533407.1_Intron	p.ED162del	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	585_587	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	162			Glu-rich.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	In_Frame_Del	DEL	ENST00000609360.1	37	c.486_488delGGA																																																																																					0.635	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		9	152						9	152	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.				potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CCCGCGTGACTGGTGGTGGTGGT	0.66																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(193-198)cag>ca		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034029_30034031delTGG	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.195_197delCCA	11.37:g.30034038_30034040delTGG	ENSP00000328511:p.His65del						p.HQ65del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1428_1430	-			65			Poly-His.			In_Frame_Del	DEL	ENST00000328224.6	37	c.195_197delCCA	CCDS41629.1																																																																																				0.660	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		8	373						8	373	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					ENST00000535633.1																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e12-2		NADPH oxidase 4			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000525196.1_Intron		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1313	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37		CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	17	702						17	702	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2338-2343)agt>ag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del	p.SD780del			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2372_2374	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		9	331						9	331	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13154583	13154583	+	5'Flank	DEL	G	G	-	rs398076428|rs59113920	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:13154583delG	ENST00000014930.4	-	0	0				HEBP1_ENST00000536942.1_5'Flank|RP11-377D9.3_ENST00000543321.1_lincRNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1						circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCTGCTGAGCGGGGGCCCCCG	0.731													GGGG|GGGGG|GGGG|insertion	2433	0.485823	0.3949	0.4986	5008	,	,		11429	0.378		0.6064	False		,,,				2504	0.5869					ENST00000543321.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr12:13154583delG	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771		12.37:g.13154583delG	Exception_encountered					HTR7P1_ENST00000535469.1_RNA								0	31	+								A8K1G2|Q9Y5Z5	RNA	DEL	ENST00000014930.4	37		CCDS31749.1																																																																																				0.731	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			7	9						7	9	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)accfs	p.T538fs	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TATCTCATGGTTTTTTTGGTG	0.532																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1612-1614)ccfs		keratin 73				2,4262		1,0,2131	239.0	258.0	252.0			2.0	0.6	12		254	19,8235		8,3,4116	no	frameshift	KRT73	NM_175068.2		9,3,6247	A1A1,A1R,RR		0.2302,0.0469,0.1678			53001991	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	319101					keratin filament	structural molecule activity	g.chr12:53001991delT	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1612delA	12.37:g.53001991delT	ENSP00000307014:p.Thr538fs					RP11-641A6.2_ENST00000551089.1_RNA	p.T538fs	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1646	-			538			Tail.		Q32MB2	Frame_Shift_Del	DEL	ENST00000305748.3	37	c.1612delA	CCDS8834.1																																																																																				0.532	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		7	834						7	834	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759192	55759192	+	Frame_Shift_Del	DEL	T	T	-	rs398102300|rs75456529	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:55759192delT	ENST00000343399.3	+	1	298	c.298delT	c.(298-300)tttfs	p.F102fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGCTCAGCTATTTTTTTTCAT	0.438													|||unknown(NO_COVERAGE)	81	0.0161741	0.0	0.0	5008	,	,		20060	0.0724		0.002	False		,,,				2504	0.0061					ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(298-300)ttfs		olfactory receptor, family 6, subfamily C, member 75				2,4262		0,2,2130	132.0	126.0	128.0			-5.1	0.0	12	dbSNP_131	128	4,8250		0,4,4123	no	frameshift	OR6C75	NM_001005497.1		0,6,6253	A1A1,A1R,RR		0.0485,0.0469,0.0479			55759192	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759192delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.298delT	12.37:g.55759192delT	ENSP00000368987:p.Phe102fs						p.F102fs	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	298	+			102						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.298delT	CCDS31820.1																																																																																				0.438	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			7	709						7	709	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88566417	88566417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr12:88566417delT	ENST00000266712.6	+	8	1314	c.1094delT	c.(1093-1095)cttfs	p.L365fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	365					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCATCGAACCTTTTTTTTCCA	0.313																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1093-1095)ctfs		transmembrane and tetratricopeptide repeat containing 3				18,4246		6,6,2120	135.0	127.0	130.0			5.5	1.0	12		131	19,8235		6,7,4114	no	frameshift	TMTC3	NM_181783.3		12,13,6234	A1A1,A1R,RR		0.2302,0.4221,0.2956			88566417	37,12481	2203	4299	6502	SO:0001589	frameshift_variant	160418					integral to membrane	binding	g.chr12:88566417delT		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1094delT	12.37:g.88566417delT	ENSP00000266712:p.Leu365fs						p.L365fs	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1314	+			365					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	c.1094delT	CCDS9032.1																																																																																				0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		7	579						7	579	---	---	---	---
HMGB1	3146	broad.mit.edu	37	13	31036851	31036852	+	Splice_Site	INS	-	-	A	rs551442918		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr13:31036851_31036852insA	ENST00000405805.1	-	4	1237		c.e4-2		HMGB1_ENST00000341423.5_Splice_Site|HMGB1_ENST00000399489.1_Splice_Site|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000326004.4_Splice_Site|HMGB1_ENST00000339872.4_Splice_Site|HMGB1_ENST00000399494.1_Splice_Site			P09429	HMGB1_HUMAN	high mobility group box 1						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		AAGGCCGAACTAAAAAAAAAAT	0.376																																						ENST00000405805.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.e4-2		high mobility group box 1																																				SO:0001630	splice_region_variant	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31036851_31036852insA	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.297-2->T	13.37:g.31036861_31036861dupA						HMGB1_ENST00000399494.1_Splice_Site|HMGB1_ENST00000326004.4_Splice_Site|HMGB1_ENST00000399489.1_Splice_Site|HMGB1_ENST00000339872.4_Splice_Site|HMGB1_ENST00000341423.5_Splice_Site				P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	4	1237	-		Lung SC(185;0.0257)						A5D8W9|Q14321|Q5T7C3|Q6IBE1	Splice_Site	INS	ENST00000405805.1	37		CCDS9335.1																																																																																				0.376	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128	Intron	9	239						9	239	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs374912343|rs371270332|rs2178778|rs587678559|rs201742006|rs367992314	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		ctctctctctctctctctTTTTTTTTT	0.415																																						ENST00000390441.2																			0																																																			0							g.chr14:22409533_22409539delCTCTCTC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409533_22409539delCTCTCTC														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.415	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		16	28						16	28	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-	rs528863117		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)accctc>acc	p.L11del	LRP10_ENST00000546834.1_In_Frame_Del_p.L11del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	11					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.67																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(13-18)acc>ac		low density lipoprotein receptor-related protein 10																																				SO:0001651	inframe_deletion	26020				endocytosis	coated pit|integral to membrane		g.chr14:23341527_23341529delCCT	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.15_17delCCT	14.37:g.23341536_23341538delCCT	ENSP00000352601:p.Leu11del					LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	1	706_708	+	all_cancers(95;4.69e-05)		5					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	In_Frame_Del	DEL	ENST00000359591.4	37	c.15_17delCCT	CCDS9578.1																																																																																				0.670	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			8	456						8	456	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)gaafs	p.E1294fs	CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3880-3882)afs		apoptotic chromatin condensation inducer 1																																				SO:0001589	frameshift_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528502_23528503delTC	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3880_3881delGA	14.37:g.23528512_23528513delTC	ENSP00000262710:p.Glu1294fs		OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs	p.E1294fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4207_4208	-	all_cancers(95;1.36e-05)		1294			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Del	DEL	ENST00000262710.1	37	c.3880_3881delGA	CCDS9587.1																																																																																				0.629	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		7	283						7	283	---	---	---	---
TMED10	10972	broad.mit.edu	37	14	75601711	75601712	+	Splice_Site	INS	-	-	A	rs200389497	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e5-2		transmembrane emp24-like trafficking protein 10 (yeast)																																				SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75601711_75601712insA	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.539-2->T	14.37:g.75601720_75601720dupA						TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	5	590	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	INS	ENST00000303575.4	37		CCDS9840.1																																																																																				0.426	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	9	292						9	292	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000557258.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.65																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1078-1083)tca>tc		forkhead box N3			,	89,4171		9,71,2050					,	-2.3	1.0			26	192,8028		26,140,3944	no	coding,coding	FOXN3	NM_005197.3,NM_001085471.1	,	35,211,5994	A1A1,A1R,RR		2.3358,2.0892,2.2516	,	,		281,12199				SO:0001651	inframe_deletion	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89629149_89629151delGAG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1080_1082delCTC	14.37:g.89629158_89629160delGAG	ENSP00000343288:p.Ser361del					FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del	p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1196_1198	-			360					Q96II7|Q9UIE7	In_Frame_Del	DEL	ENST00000345097.4	37	c.1080_1082delCTC	CCDS41977.1																																																																																				0.650	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		11	141						11	141	---	---	---	---
CHEK2P2	646096	broad.mit.edu	37	15	20490739	20490739	+	RNA	DEL	G	G	-	rs143465906|rs397973810|rs537853281|rs61277225	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr15:20490739delG	ENST00000555186.1	+	0	568					NR_038836.1				checkpoint kinase 2 pseudogene 2																		GTTACAACCTGtttttttttt	0.423																																						ENST00000555186.1																			0																																																			0							g.chr15:20490739delG			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20490739delG								NR_038836.1						0	568	+									RNA	DEL	ENST00000555186.1	37																																																																																						0.423	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		11	281						11	281	---	---	---	---
EIF3C	8663	broad.mit.edu	37	16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)gagdel	p.E294del	EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(871-873)del		eukaryotic translation initiation factor 3, subunit C																																				SO:0001651	inframe_deletion	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734579_28734581delGAG	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.871_873delGAG	16.37:g.28734588_28734590delGAG	ENSP00000332604:p.Glu294del					EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del	p.E294del			Q99613	EIF3C_HUMAN			9	1057_1059	+			294			Poly-Glu.			In_Frame_Del	DEL	ENST00000331666.6	37	c.871_873delGAG	CCDS10638.1																																																																																				0.562	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		14	3577						14	3577	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)agcdel	p.S629del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		cagcagcggtagcagcagcagca	0.616																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1855-1857)del		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913786_67913788delAGC	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1855_1857delAGC	16.37:g.67913795_67913797delAGC	ENSP00000351811:p.Ser629del						p.S629del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2094_2096	+		Ovarian(137;0.0563)	629			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1855_1857delAGC	CCDS10849.1																																																																																				0.616	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		8	292						8	292	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Frame_Shift_Del	DEL	G	G	-	rs137852790|rs137852791|rs587782705		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:7578475delG	ENST00000269305.4	-	5	644	c.455delC	c.(454-456)ccgfs	p.P153fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	153	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGTGCCGGGCGGGGGTGTGGA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		132	Substitution - Missense(84)|Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)	large_intestine(22)|central_nervous_system(18)|upper_aerodigestive_tract(15)|oesophagus(10)|skin(9)|haematopoietic_and_lymphoid_tissue(8)|ovary(8)|prostate(8)|urinary_tract(7)|stomach(6)|bone(5)|breast(4)|lung(3)|liver(3)|vulva(2)|soft_tissue(2)|thyroid(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM941327	TP53	M		c.(454-456)cgfs	Other conserved DNA damage response genes	tumor protein p53							51.0	52.0	52.0					17																	7578475		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578475delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.455delC	17.37:g.7578475delG	ENSP00000269305:p.Pro153fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs	p.P153fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	587	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	153		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.455delC	CCDS11118.1																																																																																				0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	314						19	314	---	---	---	---
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		7	497						7	497	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4573-4575)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027202_27027204delAGC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4573_4575delAGC	17.37:g.27027211_27027213delAGC	ENSP00000319104:p.Ser1528del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			34	4856_4858	+	Lung NSC(42;0.00431)		1528			Poly-Ser.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.4573_4575delAGC	CCDS32596.1																																																																																				0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		10	1079						10	1079	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			7	71						7	71	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs199734221		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCAGCTCCCCCGGGGCCTCCGT	0.53																																						ENST00000576266.1																			0																																																			0							g.chr18:112519_112520insA			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112519_112520insA														0	153_154	+									RNA	INS	ENST00000608049.1	37																																																																																						0.530	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			7	85						7	85	---	---	---	---
CCDC130	81576	broad.mit.edu	37	19	13873132	13873134	+	In_Frame_Del	DEL	AGG	AGG	-	rs148655062		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:13873132_13873134delAGG	ENST00000586600.1	+	10	1096_1098	c.593_595delAGG	c.(592-597)caggag>cag	p.E202del	MRI1_ENST00000040663.6_5'Flank|CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000319545.8_5'Flank|CCDC130_ENST00000221554.8_In_Frame_Del_p.E202del			P13994	CC130_HUMAN	coiled-coil domain containing 130	202					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAAGCCATCCAGGAGGAGGAGGA	0.586																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(592-597)cag>c		coiled-coil domain containing 130																																				SO:0001651	inframe_deletion	81576				response to virus		protein binding	g.chr19:13873132_13873134delAGG	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.593_595delAGG	19.37:g.13873141_13873143delAGG	ENSP00000465776:p.Glu202del					CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_In_Frame_Del_p.QE198del	p.QE198del			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		10	1096_1098	+			198					Q9BQ72	In_Frame_Del	DEL	ENST00000586600.1	37	c.593_595delAGG	CCDS12296.1																																																																																				0.586	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		9	525						9	525	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)caa>ca		calcium homeostasis endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron	p.QQ339del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156_1158	-			339			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		8	144						8	144	---	---	---	---
PLEKHG2	64857	broad.mit.edu	37	19	39908633	39908653	+	In_Frame_Del	DEL	GAGGGGGTGGCCCCCGGCTAC	GAGGGGGTGGCCCCCGGCTAC	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:39908633_39908653delGAGGGGGTGGCCCCCGGCTAC	ENST00000409794.3	+	9	1821_1841	c.971_991delGAGGGGGTGGCCCCCGGCTAC	c.(970-993)ggagggggtggcccccggctacga>gga	p.GGGPRLR325del	PLEKHG2_ENST00000409797.2_In_Frame_Del_p.GGGPRLR325del|PLEKHG2_ENST00000425673.1_In_Frame_Del_p.GGGPRLR325del|PLEKHG2_ENST00000458508.2_In_Frame_Del_p.GGGPRLR266del|PLEKHG2_ENST00000378550.1_In_Frame_Del_p.GGGPRLR325del	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	325	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P286T(1)|p.P328T(1)|p.P269T(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGAGGAGGCGGAGGGGGTGGCCCCCGGCTACGAGGGGGTGA	0.661																																						ENST00000425673.1																			3	Substitution - Missense(3)	p.P286T(1)|p.P328T(1)|p.P269T(1)	lung(3)	breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(970-993)gga>g		pleckstrin homology domain containing, family G (with RhoGef domain) member 2																																				SO:0001651	inframe_deletion	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39908633_39908653delGAGGGGGTGGCCCCCGGCTAC	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.971_991delGAGGGGGTGGCCCCCGGCTAC	19.37:g.39908633_39908653delGAGGGGGTGGCCCCCGGCTAC	ENSP00000386733:p.Gly325_Arg331del					PLEKHG2_ENST00000409797.2_In_Frame_Del_p.GGGGPRLR324del|PLEKHG2_ENST00000378550.1_In_Frame_Del_p.GGGGPRLR324del|PLEKHG2_ENST00000458508.2_In_Frame_Del_p.GGGGPRLR265del|PLEKHG2_ENST00000409794.3_In_Frame_Del_p.GGGGPRLR324del	p.GGGGPRLR324del			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		9	1296_1316	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		324			PH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	In_Frame_Del	DEL	ENST00000409794.3	37	c.971_991delGAGGGGGTGGCCCCCGGCTAC	CCDS33022.2																																																																																				0.661	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		8	31						8	31	---	---	---	---
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566																																						ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50474857_50474861delGACGC	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50474857_50474861delGACGC														0	998	+									RNA	DEL	ENST00000602139.1	37																																																																																						0.566	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		7	202						7	202	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-	rs547594353	byFrequency	TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(901-903)del		GDNF-inducible zinc finger protein 1				7,68,4189		0,0,7,1,66,2058						-8.0	0.0			52	1,62,8191		0,0,1,3,56,4067	no	codingComplex	GZF1	NM_022482.3		0,0,8,4,122,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7633,1.7589,1.1024				8,130,12380				SO:0001651	inframe_deletion	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345921_23345923delGAG	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.901_903delGAG	20.37:g.23345930_23345932delGAG	ENSP00000338290:p.Glu306del					GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron	p.E306del			Q9H116	GZF1_HUMAN			2	978_980	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		306					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	In_Frame_Del	DEL	ENST00000338121.5	37	c.901_903delGAG	CCDS13151.1																																																																																				0.532	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		12	263						12	263	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-	rs556869373		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_ENST00000405486.1_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000407260.4_In_Frame_Del_p.312_313EE>E|RANGAP1_ENST00000356244.3_In_Frame_Del_p.367_368EE>E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1099-1104)gaa>ga		Ran GTPase activating protein 1																																				SO:0001651	inframe_deletion	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650469_41650471delTCC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1101_1103delGGA	22.37:g.41650478_41650480delTCC	ENSP00000401470:p.Glu368del					RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del	p.EE367del			P46060	RAGP1_HUMAN			10	2570_2572	-			367			Asp/Glu-rich (highly acidic).		Q96JJ2	In_Frame_Del	DEL	ENST00000455915.2	37	c.1101_1103delGGA	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		26	492						26	492	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(736-741)ttc>t		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610573_42610575delAGG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.737_739delCCT	22.37:g.42610582_42610584delAGG	ENSP00000352463:p.Ser246del					TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	873_875	-			246			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.737_739delCCT	CCDS14033.1																																																																																				0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		11	368						11	368	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs372076984|rs144357389		TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	768						7	768	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	147733548	147733548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IX-01A-11D-A40W-08	TCGA-3A-A9IX-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c89b7e9-17d2-4c9c-9d18-525ec4ee555e	d2d39866-9aa7-4bd7-875d-cd3f1337f21c	g.chrX:147733548delA	ENST00000370460.2	+	2	555	c.76delA	c.(76-78)aaafs	p.K27fs	AFF2_ENST00000370457.5_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370458.1_Frame_Shift_Del_p.K27fs|AFF2_ENST00000342251.3_Frame_Shift_Del_p.K27fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	27					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTGCACTTAAAAAAAGGGA	0.378																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(76-78)aafs		AF4/FMR2 family, member 2							178.0	171.0	173.0					X																	147733548		2203	4300	6503	SO:0001589	frameshift_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147733548delA	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.76delA	X.37:g.147733548delA	ENSP00000359489:p.Lys27fs					AFF2_ENST00000342251.3_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370457.5_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370458.1_Frame_Shift_Del_p.K27fs	p.K27fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			2	555	+	Acute lymphoblastic leukemia(192;6.56e-05)		27					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Frame_Shift_Del	DEL	ENST00000370460.2	37	c.76delA	CCDS14684.1																																																																																				0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		7	598						7	598	---	---	---	---
