#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
FAM171B	165215	broad.mit.edu	37	2	187627272	187627272	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:187627272A>T	ENST00000304698.5	+	8	2406	c.2203A>T	c.(2203-2205)Atc>Ttc	p.I735F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	735						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.I735F(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCAGCCCAAGATCCTTTACTT	0.488																																						ENST00000304698.5																			1	Substitution - Missense(1)	p.I735F(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2203-2205)Atc>Ttc		family with sequence similarity 171, member B							87.0	91.0	90.0					2																	187627272		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187627272A>T	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2203A>T	2.37:g.187627272A>T	ENSP00000304108:p.Ile735Phe						p.I735F	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			8	2406	+			735					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.2203A>T	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.982432	0.53827	.	.	ENSG00000144369	ENST00000304698	T	0.34072	1.38	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	L	0.40543	1.245	0.47621	D	0.999474	D;D	0.60575	0.988;0.988	P;P	0.56343	0.796;0.796	T	0.40683	-0.9550	10	0.72032	D	0.01	-17.4439	7.5775	0.27944	0.787:0.1426:0.0703:0.0	.	735;736	Q6P995;A8K122	F171B_HUMAN;.	F	735	ENSP00000304108:I735F	ENSP00000304108:I735F	I	+	1	0	FAM171B	187335517	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.768000	0.47645	2.299000	0.77371	0.528000	0.53228	ATC		0.488	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		25	63	0	0	0	1	0	25	63				
CRYAA	1409	broad.mit.edu	37	21	44589279	44589279	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr21:44589279G>A	ENST00000291554.2	+	1	162	c.70G>A	c.(70-72)Gac>Aac	p.D24N	CRYAA_ENST00000398132.1_5'Flank|CRYAA_ENST00000398133.1_5'Flank|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	24					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)	p.D24N(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCGGCTGTTCGACCAGTTTTT	0.617																																						ENST00000291554.2																			1	Substitution - Missense(1)	p.D24N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(70-72)Gac>Aac		crystallin, alpha A							130.0	134.0	132.0					21																	44589279		2203	4300	6503	SO:0001583	missense	1409				anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	g.chr21:44589279G>A		CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.70G>A	21.37:g.44589279G>A	ENSP00000291554:p.Asp24Asn					CRYAA_ENST00000482775.1_3'UTR	p.D24N	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN			1	162	+			24					Q53X53	Missense_Mutation	SNP	ENST00000291554.2	37	c.70G>A	CCDS13695.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058959	0.93846	.	.	ENSG00000160202	ENST00000291554	D	0.88818	-2.43	4.88	4.88	0.63580	Alpha-crystallin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95398	0.8506	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96326	0.9240	10	0.87932	D	0	-35.9483	18.0021	0.89200	0.0:0.0:1.0:0.0	.	24	P02489	CRYAA_HUMAN	N	24	ENSP00000291554:D24N	ENSP00000291554:D24N	D	+	1	0	CRYAA	43462348	1.000000	0.71417	0.997000	0.53966	0.763000	0.43281	8.858000	0.92256	2.256000	0.74724	0.609000	0.83330	GAC		0.617	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1			32	117	0	0	0	1	0	32	117				
MYBPC3	4607	broad.mit.edu	37	11	47360202	47360202	+	Missense_Mutation	SNP	C	C	T	rs397515953		TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:47360202C>T	ENST00000545968.1	-	23	2231	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725H|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R726H	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	726	Ig-like C2-type 5.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R726H(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGTCTCCACGCGGACCCGGCC	0.642																																						ENST00000399249.2																			2	Substitution - Missense(2)	p.R726H(2)	prostate(2)	breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(2176-2178)cGc>cAc		myosin binding protein C, cardiac							50.0	51.0	51.0					11																	47360202		2061	4180	6241	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47360202C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2177G>A	11.37:g.47360202C>T	ENSP00000442795:p.Arg726His					MYBPC3_ENST00000545968.1_Missense_Mutation_p.R726H|MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725H	p.R726H			Q14896	MYPC3_HUMAN		Lung(87;0.176)	22	2231	-			725			Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2177G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656730	0.29425	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.68479	-0.33;-0.33;-0.33	5.4	2.25	0.28309	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43656	0.1257	N	0.05554	-0.025	0.33747	D	0.620183	B	0.17667	0.023	B	0.25759	0.063	T	0.41805	-0.9488	9	0.23302	T	0.38	.	8.6969	0.34301	0.0:0.614:0.0:0.386	.	725	Q14896	MYPC3_HUMAN	H	726;726;725	ENSP00000442795:R726H;ENSP00000382193:R726H;ENSP00000256993:R725H	ENSP00000256993:R725H	R	-	2	0	MYBPC3	47316778	0.785000	0.28726	0.271000	0.24616	0.987000	0.75469	1.327000	0.33746	0.182000	0.20032	0.563000	0.77884	CGC		0.642	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			10	26	0	0	0	1	0	10	26				
SPAG16	79582	broad.mit.edu	37	2	214878685	214878685	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:214878685A>G	ENST00000331683.5	+	13	1506	c.1411A>G	c.(1411-1413)Aga>Gga	p.R471G	SPAG16_ENST00000374309.3_Missense_Mutation_p.R377G	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	471					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R471G(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAAAGATGCAGATGTACTTT	0.343																																						ENST00000331683.5																			2	Substitution - Missense(2)	p.R471G(2)	prostate(2)	endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1411-1413)Aga>Gga		sperm associated antigen 16							125.0	124.0	124.0					2																	214878685		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214878685A>G	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1411A>G	2.37:g.214878685A>G	ENSP00000332592:p.Arg471Gly					SPAG16_ENST00000374309.3_Missense_Mutation_p.R377G	p.R471G	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	13	1506	+		Renal(323;0.00461)	471					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1411A>G	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443749	0.43429	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.59906	0.23;0.23;0.23	5.01	3.85	0.44370	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000002	T	0.68952	0.3057	L	0.59436	1.845	0.80722	D	1	D;P;D;P	0.76494	0.998;0.925;0.999;0.939	D;P;D;P	0.77557	0.947;0.691;0.99;0.795	T	0.65063	-0.6259	10	0.28530	T	0.3	.	12.0437	0.53466	0.8461:0.1539:0.0:0.0	.	377;322;411;471	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	G	471;377;95	ENSP00000332592:R471G;ENSP00000363428:R377G;ENSP00000416600:R95G	ENSP00000332592:R471G	R	+	1	2	SPAG16	214586930	1.000000	0.71417	0.955000	0.39395	0.671000	0.39405	2.048000	0.41278	0.831000	0.34780	0.533000	0.62120	AGA		0.343	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		4	245	0	0	0	1	0	4	245				
STAT3	6774	broad.mit.edu	37	17	40498723	40498723	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:40498723G>A	ENST00000264657.5	-	3	449	c.137C>T	c.(136-138)gCg>gTg	p.A46V	STAT3_ENST00000585517.1_Missense_Mutation_p.A46V|STAT3_ENST00000404395.3_Missense_Mutation_p.A46V|STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000588969.1_Missense_Mutation_p.A46V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	46					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A46V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTTGCTGGCCGCATATGCCCT	0.433									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			2	Substitution - Missense(2)	p.A46V(2)	large_intestine(1)|prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(136-138)gCg>gTg		signal transducer and activator of transcription 3 (acute-phase response factor)							158.0	158.0	158.0					17																	40498723		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40498723G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.137C>T	17.37:g.40498723G>A	ENSP00000264657:p.Ala46Val					STAT3_ENST00000585517.1_Missense_Mutation_p.A46V|STAT3_ENST00000588969.1_Missense_Mutation_p.A46V|STAT3_ENST00000404395.3_Missense_Mutation_p.A46V|STAT3_ENST00000389272.3_5'UTR	p.A46V	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	3	449	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	46					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.137C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848324	0.91277	.	.	ENSG00000168610	ENST00000264657;ENST00000404395	T;T	0.51325	0.71;0.71	5.66	5.66	0.87406	STAT transcription factor, protein interaction (4);	0.219698	0.46758	D	0.000267	T	0.57577	0.2063	L	0.42632	1.34	0.80722	D	1	D;D;D	0.60160	0.987;0.981;0.981	P;P;P	0.56865	0.785;0.808;0.808	T	0.47156	-0.9139	10	0.30078	T	0.28	-22.3549	20.1041	0.97884	0.0:0.0:1.0:0.0	.	46;46;46	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	V	46	ENSP00000264657:A46V;ENSP00000384943:A46V	ENSP00000264657:A46V	A	-	2	0	STAT3	37752249	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	7.774000	0.85478	2.826000	0.97356	0.655000	0.94253	GCG		0.433	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		5	289	0	0	0	1	0	5	289				
PROSC	11212	broad.mit.edu	37	8	37623076	37623076	+	Silent	SNP	G	G	A	rs202002761		TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:37623076G>A	ENST00000328195.3	+	2	199	c.132G>A	c.(130-132)gcG>gcA	p.A44A		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	44					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)	p.A44A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	GGCTAGTGGCGGTCAGCAAAA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19070	0.0		0.0	False		,,,				2504	0.001					ENST00000328195.3																			1	Substitution - coding silent(1)	p.A44A(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(130-132)gcG>gcA		proline synthetase co-transcribed homolog (bacterial)	L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)						178.0	185.0	183.0					8																	37623076		2203	4300	6503	SO:0001819	synonymous_variant	11212						pyridoxal phosphate binding	g.chr8:37623076G>A	AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.132G>A	8.37:g.37623076G>A							p.A44A	NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		2	199	+		Lung NSC(58;0.174)	44					Q6FI94	Silent	SNP	ENST00000328195.3	37	c.132G>A	CCDS6096.1	.	.	.	.	.	.	.	.	.	.	G	9.310	1.055423	0.19907	.	.	ENSG00000147471	ENST00000521494	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51888	-0.8648	4	.	.	.	-13.8262	4.3518	0.11158	0.192:0.364:0.3104:0.1336	.	.	.	.	Q	13	.	.	R	+	2	0	PROSC	37742234	0.000000	0.05858	0.085000	0.20634	0.944000	0.59088	-2.610000	0.00885	-3.556000	0.00142	-1.796000	0.00623	CGG		0.532	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1	NM_007198		14	268	0	0	0	1	0	14	268				
GOT1L1	137362	broad.mit.edu	37	8	37794557	37794557	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:37794557C>T	ENST00000307599.4	-	5	637	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	180					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.V180I(3)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATCACAAGGACACAGCCATGT	0.557																																						ENST00000307599.4																			3	Substitution - Missense(3)	p.V180I(3)	prostate(2)|large_intestine(1)	central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(538-540)Gtc>Atc		glutamic-oxaloacetic transaminase 1-like 1							115.0	122.0	120.0					8																	37794557		2049	4190	6239	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37794557C>T	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.538G>A	8.37:g.37794557C>T	ENSP00000303077:p.Val180Ile						p.V180I	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		5	637	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	180					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.538G>A	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	C	4.284	0.051921	0.08291	.	.	ENSG00000169154	ENST00000307599	D	0.90620	-2.7	4.75	-8.21	0.01041	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.547984	0.16256	N	0.222495	T	0.75845	0.3905	N	0.16656	0.425	0.39023	D	0.959784	B	0.16396	0.017	B	0.19946	0.027	T	0.58640	-0.7601	10	0.05525	T	0.97	-3.7742	13.8319	0.63386	0.0:0.1881:0.0:0.8119	.	180	Q8NHS2	AATC2_HUMAN	I	180	ENSP00000303077:V180I	ENSP00000303077:V180I	V	-	1	0	GOT1L1	37913714	0.000000	0.05858	0.005000	0.12908	0.124000	0.20399	-1.584000	0.02114	-1.815000	0.01222	-0.263000	0.10527	GTC		0.557	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		6	80	0	0	0	1	0	6	80				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	46	0	0	0	1	0	5	46				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	157	0	0	0	1	0	4	157				
PLXNA4	91584	broad.mit.edu	37	7	132193088	132193088	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:132193088T>C	ENST00000359827.3	-	2	1327	c.365A>G	c.(364-366)tAc>tGc	p.Y122C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y122C|PLXNA4_ENST00000423507.2_Missense_Mutation_p.Y122C|PLXNA4_ENST00000378539.5_Missense_Mutation_p.Y122C			Q9HCM2	PLXA4_HUMAN	plexin A4	122	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.Y122C(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTCTCCTTGTAGTCTATGAG	0.552																																						ENST00000359827.3																			3	Substitution - Missense(3)	p.Y122C(3)	prostate(3)	NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(364-366)tAc>tGc		plexin A4							57.0	54.0	55.0					7																	132193088		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193088T>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.365A>G	7.37:g.132193088T>C	ENSP00000352882:p.Tyr122Cys					PLXNA4_ENST00000378539.5_Missense_Mutation_p.Y122C|PLXNA4_ENST00000423507.2_Missense_Mutation_p.Y122C|PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y122C	p.Y122C			Q9HCM2	PLXA4_HUMAN			2	1327	-			122			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.365A>G	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.674677	0.67928	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.40469	U	0.001099	T	0.26340	0.0643	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.994;0.992	T	0.04885	-1.0920	10	0.40728	T	0.16	.	15.4065	0.74884	0.0:0.0:0.0:1.0	.	122;122;122	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	C	122	ENSP00000323194:Y122C;ENSP00000352882:Y122C;ENSP00000392772:Y122C;ENSP00000367800:Y122C	ENSP00000323194:Y122C	Y	-	2	0	PLXNA4	131843628	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.051000	0.60960	0.379000	0.24179	TAC		0.552	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		4	95	0	0	0	1	0	4	95				
NLRX1	79671	broad.mit.edu	37	11	119045200	119045200	+	Silent	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:119045200C>T	ENST00000409109.1	+	6	1475	c.888C>T	c.(886-888)ggC>ggT	p.G296G	NLRX1_ENST00000409991.1_Silent_p.G296G|NLRX1_ENST00000409265.4_Silent_p.G296G|NLRX1_ENST00000525863.1_Silent_p.G296G|NLRX1_ENST00000292199.2_Silent_p.G296G	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	296	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.G296G(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGCCATTGGCCGTATCCCCA	0.547																																						ENST00000409109.1																			2	Substitution - coding silent(2)	p.G296G(2)	prostate(2)	cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(886-888)ggC>ggT		NLR family member X1							141.0	144.0	143.0					11																	119045200		2200	4295	6495	SO:0001819	synonymous_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045200C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.888C>T	11.37:g.119045200C>T						NLRX1_ENST00000409991.1_Silent_p.G296G|NLRX1_ENST00000292199.2_Silent_p.G296G|NLRX1_ENST00000409265.4_Silent_p.G296G|NLRX1_ENST00000525863.1_Silent_p.G296G	p.G296G			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1475	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	296			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	c.888C>T	CCDS8416.1																																																																																				0.547	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		5	260	0	0	0	1	0	5	260				
ZNF831	128611	broad.mit.edu	37	20	57769548	57769548	+	Silent	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr20:57769548G>A	ENST00000371030.2	+	1	3474	c.3474G>A	c.(3472-3474)acG>acA	p.T1158T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1158							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T1158T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCAGGGACGTCCCGGAGCC	0.672																																						ENST00000371030.2																			1	Substitution - coding silent(1)	p.T1158T(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3472-3474)acG>acA		zinc finger protein 831							44.0	51.0	48.0					20																	57769548		2038	4178	6216	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769548G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3474G>A	20.37:g.57769548G>A							p.T1158T	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3474	+	all_lung(29;0.0085)		1158					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3474G>A	CCDS42894.1																																																																																				0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		30	78	0	0	0	1	0	30	78				
TNKS	8658	broad.mit.edu	37	8	9564325	9564325	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:9564325G>T	ENST00000310430.6	+	8	1300	c.1274G>T	c.(1273-1275)gGa>gTa	p.G425V	TNKS_ENST00000520408.1_Missense_Mutation_p.G425V|TNKS_ENST00000518281.1_Missense_Mutation_p.G188V|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	425					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.G425V(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATTCAGCATGGAGCTTGTGTT	0.373																																						ENST00000310430.6																			3	Substitution - Missense(3)	p.G425V(3)	prostate(3)	NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(1273-1275)gGa>gTa		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							92.0	81.0	85.0					8																	9564325		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9564325G>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1274G>T	8.37:g.9564325G>T	ENSP00000311579:p.Gly425Val					TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Missense_Mutation_p.G425V|TNKS_ENST00000518281.1_Missense_Mutation_p.G188V	p.G425V	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	8	1300	+			425					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.1274G>T	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309273	0.81247	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.73258	-0.73;-0.73;1.14	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.91400	0.5142	10	0.87932	D	0	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	425;425	E7EWY6;O95271	.;TNKS1_HUMAN	V	425;425;188	ENSP00000428299:G425V;ENSP00000311579:G425V;ENSP00000429890:G188V	ENSP00000311579:G425V	G	+	2	0	TNKS	9601735	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	9.792000	0.99085	2.836000	0.97738	0.655000	0.94253	GGA		0.373	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		4	146	1	0	0.00909568	1	0.00995376	4	146				
FAM192A	80011	broad.mit.edu	37	16	57206263	57206263	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr16:57206263T>C	ENST00000309137.8	-	4	506	c.248A>G	c.(247-249)gAt>gGt	p.D83G	FAM192A_ENST00000567439.1_Missense_Mutation_p.D83G|FAM192A_ENST00000569266.1_Missense_Mutation_p.D83G|FAM192A_ENST00000389447.5_Missense_Mutation_p.D83G|FAM192A_ENST00000566077.1_Missense_Mutation_p.D6G|FAM192A_ENST00000564108.1_Missense_Mutation_p.D83G	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	83						nucleus (GO:0005634)		p.D83G(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						CTCATCTTCATCTAAGCCTCT	0.368																																						ENST00000309137.8																			1	Substitution - Missense(1)	p.D83G(1)	prostate(1)	endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						c.(247-249)gAt>gGt		family with sequence similarity 192, member A							138.0	113.0	120.0					16																	57206263		1831	4092	5923	SO:0001583	missense	80011					nucleus		g.chr16:57206263T>C		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.248A>G	16.37:g.57206263T>C	ENSP00000335808:p.Asp83Gly					FAM192A_ENST00000567439.1_Missense_Mutation_p.D83G|FAM192A_ENST00000564108.1_Missense_Mutation_p.D83G|FAM192A_ENST00000569266.1_Missense_Mutation_p.D83G|FAM192A_ENST00000566077.1_Missense_Mutation_p.D6G|FAM192A_ENST00000389447.5_Missense_Mutation_p.D83G	p.D83G	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN			4	506	-			83						Missense_Mutation	SNP	ENST00000309137.8	37	c.248A>G	CCDS42168.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.599793	0.87055	.	.	ENSG00000172775	ENST00000309137;ENST00000389447	.	.	.	5.42	5.42	0.78866	NEFA-interacting nuclear protein NIP30, N-terminal (1);	0.136951	0.64402	N	0.000003	T	0.76821	0.4041	M	0.88906	2.99	0.80722	D	1	P	0.47191	0.891	P	0.50708	0.648	T	0.82382	-0.0485	9	0.87932	D	0	-6.7122	15.7747	0.78204	0.0:0.0:0.0:1.0	.	83	Q9GZU8	F192A_HUMAN	G	83	.	ENSP00000335808:D83G	D	-	2	0	FAM192A	55763764	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.390000	0.79816	2.194000	0.70268	0.533000	0.62120	GAT		0.368	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		3	137	0	0	0	1	0	3	137				
PRAMEF2	65122	broad.mit.edu	37	1	12921277	12921277	+	Missense_Mutation	SNP	A	A	T	rs3204826	byFrequency	TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:12921277A>T	ENST00000240189.2	+	4	1155	c.1068A>T	c.(1066-1068)ttA>ttT	p.L356F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	356					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L356F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCGTGTTAGAGGGCTGTC	0.542																																						ENST00000240189.2																			1	Substitution - Missense(1)	p.L356F(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(1066-1068)ttA>ttT		PRAME family member 2							161.0	158.0	159.0					1																	12921277		2201	4291	6492	SO:0001583	missense	65122							g.chr1:12921277A>T		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1068A>T	1.37:g.12921277A>T	ENSP00000240189:p.Leu356Phe						p.L356F	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1155	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	356						Missense_Mutation	SNP	ENST00000240189.2	37	c.1068A>T	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	4.042	0.005354	0.07866	.	.	ENSG00000120952	ENST00000240189	T	0.02236	4.38	0.824	-1.65	0.08291	.	0.092787	0.43416	N	0.000565	T	0.02929	0.0087	M	0.71581	2.175	0.09310	N	1	P	0.36768	0.569	B	0.37480	0.251	T	0.30592	-0.9973	10	0.48119	T	0.1	.	4.7095	0.12865	0.3828:0.0:0.6172:0.0	.	356	O60811	PRAM2_HUMAN	F	356	ENSP00000240189:L356F	ENSP00000240189:L356F	L	+	3	2	PRAMEF2	12843864	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-0.033000	0.12246	-0.776000	0.04578	-1.447000	0.01057	TTA		0.542	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		6	92	0	0	0	1	0	6	92				
INTS2	57508	broad.mit.edu	37	17	59984779	59984779	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:59984779C>A	ENST00000444766.3	-	8	1270	c.1195G>T	c.(1195-1197)Gct>Tct	p.A399S	INTS2_ENST00000251334.6_Missense_Mutation_p.A391S	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	399					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.A399S(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTGAGTCCAGCGATCCCCATC	0.413																																						ENST00000444766.3																			2	Substitution - Missense(2)	p.A399S(2)	prostate(2)	NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(1195-1197)Gct>Tct		integrator complex subunit 2							86.0	79.0	82.0					17																	59984779		1955	4157	6112	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59984779C>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1195G>T	17.37:g.59984779C>A	ENSP00000414237:p.Ala399Ser					INTS2_ENST00000251334.6_Missense_Mutation_p.A391S	p.A399S	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			8	1270	-			399					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.1195G>T	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909592	0.92107	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.55760	0.5	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.67306	0.2879	L	0.42245	1.32	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	T	0.61574	-0.7035	9	.	.	.	-15.0078	20.2087	0.98285	0.0:1.0:0.0:0.0	.	399	Q9H0H0	INT2_HUMAN	S	399;398	ENSP00000414237:A399S	.	A	-	1	0	INTS2	57339561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.791000	0.96007	0.655000	0.94253	GCT		0.413	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		2	6	1	0	0.0784	1	0.0842074	2	6				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	43	0	0	0	1	0	4	43				
PRAMEF2	65122	broad.mit.edu	37	1	12921385	12921385	+	Silent	SNP	C	C	T	rs199716299	byFrequency	TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:12921385C>T	ENST00000240189.2	+	4	1263	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	392					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.D392D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCTATTGACGCCCTGAAGG	0.557													.|||	2	0.000399361	0.0015	0.0	5008	,	,		26175	0.0		0.0	False		,,,				2504	0.0					ENST00000240189.2																			1	Substitution - coding silent(1)	p.D392D(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(1174-1176)gaC>gaT		PRAME family member 2							99.0	101.0	100.0					1																	12921385		2202	4295	6497	SO:0001819	synonymous_variant	65122							g.chr1:12921385C>T		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1176C>T	1.37:g.12921385C>T							p.D392D	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1263	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	392						Silent	SNP	ENST00000240189.2	37	c.1176C>T	CCDS149.1																																																																																				0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		12	58	0	0	0	1	0	12	58				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		5	30	0	0	0	1	0	5	30				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	46	0	0	0	1	0	3	46				
C1orf85	112770	broad.mit.edu	37	1	156263002	156263002	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:156263002T>C	ENST00000362007.1	-	6	1082		c.e6-2		C1orf85_ENST00000482579.1_Splice_Site	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85						intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					AGCATCGACCTAGAGCAAGCA	0.622																																						ENST00000362007.1																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14						c.e6-2		chromosome 1 open reading frame 85							67.0	63.0	64.0					1																	156263002		2203	4300	6503	SO:0001630	splice_region_variant	112770				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr1:156263002T>C	BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.1056-2A>G	1.37:g.156263002T>C						C1orf85_ENST00000472870.1_Intron		NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN			6	1082	-	Hepatocellular(266;0.158)							A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Splice_Site	SNP	ENST00000362007.1	37		CCDS1139.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.920697	0.33908	.	.	ENSG00000198715	ENST00000362007	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2007	0.59765	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf85	154529626	1.000000	0.71417	0.984000	0.44739	0.249000	0.25844	5.689000	0.68234	2.217000	0.71921	0.379000	0.24179	.		0.622	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580	Intron	3	121	0	0	0	1	0	3	121				
MT-CO1	4512	broad.mit.edu	37	M	6460	6460	+	Silent	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chrM:6460G>A	ENST00000361624.2	+	1	557	c.557G>A	c.(556-558)tGa>tAa	p.*186*	MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TQ_ENST00000387372.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	186					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCTCTTCGTCTGATCCGTCCT	0.473																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(556-558)tGa>tAa		mitochondrially encoded cytochrome c oxidase I																																				SO:0001819	synonymous_variant	4512							g.chrM:6460G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.557G>A	M.37:g.6460G>A							p.186_186ins*							1	557	+								Q34770	Nonsense_Mutation	SNP	ENST00000361624.2	37	c.557G>A																																																																																					0.473	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		10	62	0	0	0	1	0	10	62				
FAM213A	84293	broad.mit.edu	37	10	82185669	82185669	+	Silent	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr10:82185669C>T	ENST00000372181.1	+	3	788	c.318C>T	c.(316-318)ggC>ggT	p.G106G	FAM213A_ENST00000372188.1_Silent_p.G106G|FAM213A_ENST00000372187.5_Silent_p.G106G|FAM213A_ENST00000372185.1_Silent_p.G95G	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	106	Thioredoxin fold. {ECO:0000250}.				oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)	p.G106G(1)									ACCAGCTGGGCGTCCCCCTCT	0.522																																						ENST00000372181.1																			1	Substitution - coding silent(1)	p.G106G(1)	prostate(1)								c.(316-318)ggC>ggT		family with sequence similarity 213, member A							122.0	112.0	115.0					10																	82185669		2203	4300	6503	SO:0001819	synonymous_variant	84293					extracellular region		g.chr10:82185669C>T	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.318C>T	10.37:g.82185669C>T						FAM213A_ENST00000372185.1_Silent_p.G95G|FAM213A_ENST00000372187.5_Silent_p.G106G|FAM213A_ENST00000372188.1_Silent_p.G106G	p.G106G	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN			3	788	+			106					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Silent	SNP	ENST00000372181.1	37	c.318C>T	CCDS7368.1																																																																																				0.522	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			36	87	0	0	0	1	0	36	87				
GABRG1	2565	broad.mit.edu	37	4	46067560	46067560	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:46067560G>T	ENST00000295452.4	-	4	530	c.363C>A	c.(361-363)gaC>gaA	p.D121E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	121					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D121E(1)|p.D121D(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTAAACGACTGTCAAACCAGG	0.294																																						ENST00000295452.4																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.D121E(1)|p.D121D(1)	prostate(1)|lung(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(361-363)gaC>gaA		gamma-aminobutyric acid (GABA) A receptor, gamma 1							45.0	46.0	46.0					4																	46067560		2203	4299	6502	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067560G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.363C>A	4.37:g.46067560G>T	ENSP00000295452:p.Asp121Glu						p.D121E	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	530	-			121					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.363C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883612	0.72410	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.93366	-3.21	5.08	-0.518	0.11943	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.96762	0.8943	M	0.93241	3.395	0.49483	D	0.999792	D	0.89917	1.0	D	0.91635	0.999	D	0.95627	0.8686	10	0.87932	D	0	.	10.469	0.44624	0.4008:0.0:0.5992:0.0	.	121	Q8N1C3	GBRG1_HUMAN	E	121	ENSP00000295452:D121E	ENSP00000295452:D121E	D	-	3	2	GABRG1	45762317	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.422000	0.34826	-0.039000	0.13602	0.508000	0.49915	GAC		0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		14	62	1	0	1.5842e-08	1	1.91424e-08	14	62				
TMTC3	160418	broad.mit.edu	37	12	88568465	88568465	+	Silent	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:88568465T>C	ENST00000266712.6	+	9	1501	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	427					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)		p.D427D(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GAAATTGGGATTGGGAGTCTG	0.343																																						ENST00000266712.6																			1	Substitution - coding silent(1)	p.D427D(1)	prostate(1)	NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1279-1281)gaT>gaC		transmembrane and tetratricopeptide repeat containing 3							131.0	118.0	123.0					12																	88568465		2203	4298	6501	SO:0001819	synonymous_variant	160418					integral to membrane	binding	g.chr12:88568465T>C		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.1281T>C	12.37:g.88568465T>C							p.D427D	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			9	1501	+			427					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Silent	SNP	ENST00000266712.6	37	c.1281T>C	CCDS9032.1																																																																																				0.343	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		9	201	0	0	0	1	0	9	201				
COL3A1	1281	broad.mit.edu	37	2	189875581	189875581	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:189875581A>T	ENST00000304636.3	+	50	4389	c.4219A>T	c.(4219-4221)Aaa>Taa	p.K1407*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.K1104*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1407	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.K1407*(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGAAATAGCAAATTCACCTA	0.398																																						ENST00000304636.3																			1	Substitution - Nonsense(1)	p.K1407*(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(4219-4221)Aaa>Taa		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						100.0	92.0	95.0					2																	189875581		2203	4300	6503	SO:0001587	stop_gained	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189875581A>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.4219A>T	2.37:g.189875581A>T	ENSP00000304408:p.Lys1407*					COL3A1_ENST00000317840.5_Nonsense_Mutation_p.K1104*	p.K1407*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		50	4389	+			1407			Fibrillar collagen NC1.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Nonsense_Mutation	SNP	ENST00000304636.3	37	c.4219A>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	A	42	9.696377	0.99241	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	15.6613	0.77190	1.0:0.0:0.0:0.0	.	.	.	.	X	1407;1104	.	ENSP00000304408:K1407X	K	+	1	0	COL3A1	189583826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.652000	0.67959	2.100000	0.63781	0.533000	0.62120	AAA		0.398	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		5	115	0	0	0	1	0	5	115				
FAM86HP	729375	broad.mit.edu	37	3	129821682	129821682	+	RNA	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr3:129821682G>T	ENST00000500074.2	-	0	463									family with sequence similarity 86, member H, pseudogene																		GGAGCCCGCTGGTGCTCCCAG	0.642																																						ENST00000500074.2																			0																																																			0							g.chr3:129821682G>T			3q22.1	2011-07-01			ENSG00000253540	ENSG00000253540			42359	pseudogene	pseudogene							Standard	NR_024252		Approved		uc011ble.1		OTTHUMG00000159796		3.37:g.129821682G>T														0	463	-									RNA	SNP	ENST00000500074.2	37																																																																																						0.642	FAM86HP-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000358348.1			4	37	1	0	0.00621372	1	0.00706658	4	37				
CD48	962	broad.mit.edu	37	1	160654892	160654892	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:160654892G>T	ENST00000368046.3	-	2	257	c.170C>A	c.(169-171)aCc>aAc	p.T57N	RP11-404F10.2_ENST00000588034.1_RNA|CD48_ENST00000368045.3_Missense_Mutation_p.T57N|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000443928.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	57	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.T57N(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATAAAACCAGGTTAGTTGTTT	0.438																																						ENST00000368045.3																			1	Substitution - Missense(1)	p.T57N(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(169-171)aCc>aAc		CD48 molecule							81.0	87.0	85.0					1																	160654892		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160654892G>T	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.170C>A	1.37:g.160654892G>T	ENSP00000357025:p.Thr57Asn					CD48_ENST00000368046.3_Missense_Mutation_p.T57N	p.T57N			P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	209	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		57			Ig-like C2-type 1.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.170C>A	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359118	0.41801	.	.	ENSG00000117091	ENST00000368046;ENST00000368045	T;T	0.65178	-0.14;-0.14	3.6	-0.529	0.11901	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.832872	0.11313	N	0.576939	T	0.54498	0.1862	M	0.61703	1.905	0.09310	N	1	P;D;D	0.64830	0.638;0.994;0.994	P;D;D	0.77557	0.623;0.99;0.99	T	0.38394	-0.9663	10	0.39692	T	0.17	-13.1019	2.6221	0.04919	0.1065:0.3488:0.3659:0.1788	.	57;57;57	Q8MGR0;Q6IAZ2;P09326	.;.;CD48_HUMAN	N	57	ENSP00000357025:T57N;ENSP00000357024:T57N	ENSP00000357024:T57N	T	-	2	0	CD48	158921516	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.171000	0.09883	-0.088000	0.12506	0.462000	0.41574	ACC		0.438	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		4	112	1	0	0.00909568	1	0.00995376	4	112				
CNGA3	1261	broad.mit.edu	37	2	99012981	99012981	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:99012981A>G	ENST00000272602.2	+	7	1387	c.1348A>G	c.(1348-1350)Acg>Gcg	p.T450A	CNGA3_ENST00000436404.2_Missense_Mutation_p.T432A|CNGA3_ENST00000409937.1_Missense_Mutation_p.T454A|CNGA3_ENST00000393504.1_Missense_Mutation_p.T450A			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	450					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.T450A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAACAAGAAGACGGTGGATGA	0.537																																						ENST00000393504.1																			1	Substitution - Missense(1)	p.T450A(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(1348-1350)Acg>Gcg		cyclic nucleotide gated channel alpha 3							63.0	61.0	62.0					2																	99012981		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012981A>G	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1348A>G	2.37:g.99012981A>G	ENSP00000272602:p.Thr450Ala					CNGA3_ENST00000272602.2_Missense_Mutation_p.T450A|CNGA3_ENST00000409937.1_Missense_Mutation_p.T454A|CNGA3_ENST00000436404.2_Missense_Mutation_p.T432A	p.T450A	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	1765	+			450					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1348A>G	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	A	8.661	0.900579	0.17686	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05	4.85	4.85	0.62838	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	N	0.12663	0.25	0.51482	D	0.999929	B;B;B	0.19073	0.004;0.01;0.033	B;B;B	0.17722	0.008;0.007;0.019	D	0.86332	0.1699	10	0.11485	T	0.65	.	13.5522	0.61738	1.0:0.0:0.0:0.0	.	454;432;450	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	A	450;432;450;454	ENSP00000377140:T450A;ENSP00000410070:T432A;ENSP00000272602:T450A;ENSP00000386761:T454A	ENSP00000272602:T450A	T	+	1	0	CNGA3	98379413	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.312000	0.33574	2.033000	0.60031	0.460000	0.39030	ACG		0.537	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		17	37	0	0	0	1	0	17	37				
FBXL2	25827	broad.mit.edu	37	3	33400492	33400492	+	Silent	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr3:33400492C>T	ENST00000484457.1	+	3	190	c.99C>T	c.(97-99)tgC>tgT	p.C33C	FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000538892.1_Silent_p.C33C|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Silent_p.C33C|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2									p.C33C(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TAACTTTGTGCCGATGTGCAC	0.289																																						ENST00000484457.1																			2	Substitution - coding silent(2)	p.C33C(2)	prostate(2)	endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(97-99)tgC>tgT		F-box and leucine-rich repeat protein 2							46.0	46.0	46.0					3																	33400492		2200	4296	6496	SO:0001819	synonymous_variant	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33400492C>T	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.99C>T	3.37:g.33400492C>T						FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538892.1_Silent_p.C33C|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Silent_p.C33C|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_Intron	p.C33C	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			3	190	+			33			F-box.			Silent	SNP	ENST00000484457.1	37	c.99C>T	CCDS2658.1																																																																																				0.289	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		3	53	0	0	0	1	0	3	53				
C1QL2	165257	broad.mit.edu	37	2	119915187	119915187	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:119915187C>G	ENST00000272520.3	-	1	1278	c.659G>C	c.(658-660)tGg>tCg	p.W220S		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	220	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.W220S(1)		NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GAGGTCCGCCCACATGCTGGT	0.647										HNSCC(49;0.14)																												ENST00000272520.3																			1	Substitution - Missense(1)	p.W220S(1)	prostate(1)	NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(658-660)tGg>tCg		complement component 1, q subcomponent-like 2							48.0	53.0	51.0					2																	119915187		2201	4300	6501	SO:0001583	missense	165257					collagen		g.chr2:119915187C>G	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.659G>C	2.37:g.119915187C>G	ENSP00000272520:p.Trp220Ser	HNSCC(49;0.14)					p.W220S	NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN			1	1278	-			220			C1q.			Missense_Mutation	SNP	ENST00000272520.3	37	c.659G>C	CCDS42737.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081779	0.76528	.	.	ENSG00000144119	ENST00000272520	T	0.74209	-0.82	4.87	4.87	0.63330	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	T	0.81692	0.4876	L	0.45744	1.44	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.80256	-0.1458	9	.	.	.	.	16.7477	0.85477	0.0:1.0:0.0:0.0	.	220	Q7Z5L3	C1QL2_HUMAN	S	220	ENSP00000272520:W220S	.	W	-	2	0	C1QL2	119631657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.762000	0.62250	2.541000	0.85698	0.561000	0.74099	TGG		0.647	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		6	37	0	0	0	1	0	6	37				
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:47696425A>C	ENST00000393328.2	-	6	763	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000393331.3_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)																												ENST00000393331.3																			5	Substitution - Missense(5)	p.F133C(3)|p.F133S(2)	prostate(5)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)tTc>tGc		speckle-type POZ protein							119.0	120.0	120.0					17																	47696425		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696425A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.398T>G	17.37:g.47696425A>C	ENSP00000377001:p.Phe133Cys	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C	p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	868	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.398T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055575	0.75960	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67321	-0.5700	10	0.54805	T	0.06	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	C	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133C;ENSP00000377004:F133C;ENSP00000240327:F133C;ENSP00000425905:F133C;ENSP00000420908:F133C;ENSP00000426986:F133C;ENSP00000420960:F133C;ENSP00000426262:F133C;ENSP00000424119:F133C	ENSP00000240327:F133C	F	-	2	0	SPOP	45051424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		59	155	0	0	0	1	0	59	155				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	47	0	0	0	1	0	3	47				
ANKRD17	26057	broad.mit.edu	37	4	74005375	74005375	+	Silent	SNP	T	T	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:74005375T>G	ENST00000358602.4	-	15	3074	c.2958A>C	c.(2956-2958)ggA>ggC	p.G986G	ANKRD17_ENST00000509867.2_Silent_p.G873G|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	986	Gln-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G986G(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACTGGCTGTCCAACTATCA	0.562																																						ENST00000358602.4																			2	Substitution - coding silent(2)	p.G986G(2)	prostate(2)	NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(2956-2958)ggA>ggC		ankyrin repeat domain 17							80.0	69.0	73.0					4																	74005375		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74005375T>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2958A>C	4.37:g.74005375T>G						ANKRD17_ENST00000509867.2_Silent_p.G873G|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR	p.G986G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		15	3074	-	Breast(15;0.000295)		986			Gln-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.2958A>C	CCDS34004.1																																																																																				0.562	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		5	32	0	0	0	1	0	5	32				
DHX9	1660	broad.mit.edu	37	1	182812496	182812496	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:182812496A>G	ENST00000367549.3	+	3	289	c.179A>G	c.(178-180)aAt>aGt	p.N60S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	60	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.N60S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCACAAAGCAATGCTGCCAGA	0.363																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			1	Substitution - Missense(1)	p.N60S(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(178-180)aAt>aGt		DEAH (Asp-Glu-Ala-His) box helicase 9							106.0	102.0	103.0					1																	182812496		1824	4077	5901	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182812496A>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.179A>G	1.37:g.182812496A>G	ENSP00000356520:p.Asn60Ser						p.N60S	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			3	289	+			60			DRBM 1.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.179A>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582292	0.86748	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.75260	-0.92	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.86957	0.6058	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88723	0.3231	10	0.72032	D	0.01	.	15.1117	0.72362	1.0:0.0:0.0:0.0	.	60	Q08211	DHX9_HUMAN	S	60	ENSP00000356520:N60S	ENSP00000356520:N60S	N	+	2	0	DHX9	181079119	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.469000	0.90395	2.263000	0.75096	0.533000	0.62120	AAT		0.363	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		3	135	0	0	0	1	0	3	135				
DCDC1	341019	broad.mit.edu	37	11	31312310	31312310	+	Missense_Mutation	SNP	G	G	C	rs377121072		TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:31312310G>C	ENST00000452803.1	-	7	1045	c.844C>G	c.(844-846)Ctt>Gtt	p.L282V	DCDC1_ENST00000597505.1_Missense_Mutation_p.L282V	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	282					intracellular signal transduction (GO:0035556)			p.L282V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTAATAGAAAGAACAGGCTTG	0.393																																						ENST00000597505.1																			1	Substitution - Missense(1)	p.L282V(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(844-846)Ctt>Gtt		doublecortin domain containing 1							90.0	90.0	90.0					11																	31312310		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31312310G>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.844C>G	11.37:g.31312310G>C	ENSP00000389792:p.Leu282Val					DCDC1_ENST00000452803.1_Missense_Mutation_p.L282V	p.L282V			P59894	DCDC1_HUMAN			5	843	-	Lung SC(675;0.225)		282					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.844C>G	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930331	0.52866	.	.	ENSG00000188682	ENST00000452803	D	0.93659	-3.26	5.48	4.55	0.56014	Doublecortin domain (1);	0.000000	0.44902	D	0.000419	D	0.91321	0.7263	L	0.49640	1.575	0.25490	N	0.987657	P	0.51537	0.946	P	0.46253	0.509	D	0.85414	0.1139	10	0.48119	T	0.1	-35.828	10.6125	0.45429	0.0:0.1341:0.7085:0.1574	.	282	P59894	DCDC1_HUMAN	V	282	ENSP00000389792:L282V	ENSP00000389792:L282V	L	-	1	0	DCDC1	31268886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.940000	0.49003	1.395000	0.46643	0.655000	0.94253	CTT		0.393	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		37	91	0	0	0	1	0	37	91				
SEPT9	10801	broad.mit.edu	37	17	75478262	75478262	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:75478262C>T	ENST00000427177.1	+	4	884	c.758C>T	c.(757-759)gCc>gTc	p.A253V	SEPT9_ENST00000588690.1_Missense_Mutation_p.A89V|SEPT9_ENST00000431235.2_Missense_Mutation_p.A89V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A29V|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000329047.8_Missense_Mutation_p.A235V|SEPT9_ENST00000541152.2_Missense_Mutation_p.A2V|SEPT9_ENST00000427674.2_Missense_Mutation_p.A89V|SEPT9_ENST00000449803.2_Missense_Mutation_p.A89V|SEPT9_ENST00000592951.1_Missense_Mutation_p.A2V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A141V|SEPT9_ENST00000591088.1_Missense_Mutation_p.A2V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A235V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A62V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A234V|SEPT9_ENST00000590917.1_Missense_Mutation_p.A2V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A246V	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	253					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A235V(2)|p.A141V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGCGACATGGCCGACACCCCC	0.652																																						ENST00000329047.8																			3	Substitution - Missense(3)	p.A235V(2)|p.A141V(1)	prostate(3)	autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(703-705)gCc>gTc		septin 9							17.0	22.0	20.0					17																	75478262		2050	4181	6231	SO:0001583	missense	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75478262C>T	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.758C>T	17.37:g.75478262C>T	ENSP00000391249:p.Ala253Val					SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000591088.1_Missense_Mutation_p.A2V|SEPT9_ENST00000431235.2_Missense_Mutation_p.A89V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A29V|SEPT9_ENST00000590917.1_Missense_Mutation_p.A2V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A234V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A246V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A62V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A141V|SEPT9_ENST00000592951.1_Missense_Mutation_p.A2V|SEPT9_ENST00000427177.1_Missense_Mutation_p.A253V|SEPT9_ENST00000449803.2_Missense_Mutation_p.A89V|SEPT9_ENST00000427674.2_Missense_Mutation_p.A89V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A235V|SEPT9_ENST00000588690.1_Missense_Mutation_p.A89V|SEPT9_ENST00000541152.2_Missense_Mutation_p.A2V	p.A235V	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		3	1516	+			253					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.704C>T	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	c	19.88	3.909234	0.72868	.	.	ENSG00000184640	ENST00000427177;ENST00000397613;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674;ENST00000541152;ENST00000431235;ENST00000427180	T;T;T;T;T;T	0.47869	1.28;0.89;1.29;1.29;0.89;0.83	4.99	4.99	0.66335	.	2.794540	0.01175	U	0.006959	T	0.62998	0.2474	L	0.47716	1.5	0.32529	N	0.535257	B;P;P;D;B;B;B	0.59767	0.073;0.617;0.649;0.986;0.003;0.003;0.005	B;B;B;P;B;B;B	0.60886	0.059;0.173;0.228;0.88;0.001;0.004;0.002	T	0.47849	-0.9085	10	0.25751	T	0.34	.	12.7932	0.57545	0.0:0.9207:0.0:0.0793	.	29;234;141;214;246;235;253	Q9UHD8-9;Q9UHD8-7;Q9UHD8-8;Q1WWK5;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;.;.;SEPT9_HUMAN	V	253;2;89;235;246;89;29;2;141	ENSP00000391249:A253V;ENSP00000400181:A89V;ENSP00000329161:A235V;ENSP00000405877:A246V;ENSP00000403194:A89V;ENSP00000415624:A141V	ENSP00000329161:A235V	A	+	2	0	SEPT9	72989857	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	4.727000	0.61993	2.319000	0.78375	0.627000	0.83407	GCC		0.652	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		3	13	0	0	0	1	0	3	13				
C1orf101	257044	broad.mit.edu	37	1	244716060	244716060	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:244716060G>A	ENST00000366534.4	+	9	1027	c.973G>A	c.(973-975)Ggt>Agt	p.G325S	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366531.3_Missense_Mutation_p.G174S|C1orf101_ENST00000366533.4_Missense_Mutation_p.G325S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	325						CatSper complex (GO:0036128)		p.G325S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCTTCCTGATGGTGGAATTAC	0.284																																						ENST00000366534.4																			1	Substitution - Missense(1)	p.G325S(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(973-975)Ggt>Agt		chromosome 1 open reading frame 101							92.0	95.0	94.0					1																	244716060		2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244716060G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.973G>A	1.37:g.244716060G>A	ENSP00000355492:p.Gly325Ser					C1orf101_ENST00000366531.3_Missense_Mutation_p.G174S|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.G325S	p.G325S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		9	1027	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		325					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.973G>A	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257644	0.22965	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T	0.29142	1.58;1.58;1.58	4.82	-3.77	0.04346	.	1.766020	0.02817	N	0.125119	T	0.19525	0.0469	L	0.27053	0.805	0.09310	N	1	B;B;B	0.17268	0.021;0.021;0.019	B;B;B	0.17722	0.012;0.012;0.019	T	0.34625	-0.9821	10	0.05959	T	0.93	.	11.1348	0.48368	0.7483:0.0:0.2517:0.0	.	245;325;325	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	S	325;325;325;245;174	ENSP00000355492:G325S;ENSP00000355491:G325S;ENSP00000395796:G245S	ENSP00000355489:G174S	G	+	1	0	C1orf101	242782683	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.399000	0.07250	-0.582000	0.05929	-0.140000	0.14226	GGT		0.284	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		4	155	0	0	0	1	0	4	155				
MALAT1	378938	broad.mit.edu	37	11	65270044	65270044	+	lincRNA	SNP	T	T	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:65270044T>A	ENST00000534336.1	+	0	4812					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TAGTTCAGCTTGAATGTCTCT	0.308																																						ENST00000534336.1																			0																				93.0	98.0	96.0					11																	65270044		874	1988	2862			0							g.chr11:65270044T>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270044T>A								NR_002819.2						0	4812	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.308	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		4	109	0	0	0	1	0	4	109				
KARS	3735	broad.mit.edu	37	16	75669946	75669946	+	Missense_Mutation	SNP	C	C	A	rs201230388		TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr16:75669946C>A	ENST00000302445.3	-	5	572	c.533G>T	c.(532-534)cGg>cTg	p.R178L	KARS_ENST00000568378.1_Intron|KARS_ENST00000319410.5_Missense_Mutation_p.R206L	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	178					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)	p.R178L(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TATGTCTCCCCGACGCAGTTT	0.373																																						ENST00000319410.5																			1	Substitution - Missense(1)	p.R178L(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(616-618)cGg>cTg		lysyl-tRNA synthetase	L-Lysine(DB00123)						75.0	61.0	66.0					16																	75669946		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75669946C>A	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.533G>T	16.37:g.75669946C>A	ENSP00000303043:p.Arg178Leu					KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.R178L	p.R206L	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN			6	738	-			178					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.617G>T	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330544	0.81690	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.21361	2.01;2.01	6.17	6.17	0.99709	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	L	0.39085	1.19	0.80722	D	1	B;B	0.30104	0.027;0.268	B;B	0.30495	0.017;0.116	T	0.04678	-1.0934	10	0.13470	T	0.59	-10.463	19.4575	0.94900	0.0:1.0:0.0:0.0	.	206;178	Q15046-2;Q15046	.;SYK_HUMAN	L	206;178	ENSP00000325448:R206L;ENSP00000303043:R178L	ENSP00000303043:R178L	R	-	2	0	KARS	74227447	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.603000	0.82811	2.941000	0.99782	0.655000	0.94253	CGG		0.373	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		3	62	1	0	0.115264	1	0.117286	3	62				
ERCC3	2071	broad.mit.edu	37	2	128050211	128050211	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:128050211G>A	ENST00000285398.2	-	3	540	c.446C>T	c.(445-447)cCt>cTt	p.P149L	ERCC3_ENST00000493187.2_Missense_Mutation_p.P85L	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	149					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)	p.P149L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AATTCCATCAGGGACTCCAGT	0.483			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Substitution - Missense(1)	p.P149L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(253-255)cCt>cTt	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							92.0	86.0	88.0					2																	128050211		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128050211G>A	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.446C>T	2.37:g.128050211G>A	ENSP00000285398:p.Pro149Leu					ERCC3_ENST00000285398.2_Missense_Mutation_p.P149L	p.P85L			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	3	717	-	Colorectal(110;0.1)		149					Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.254C>T	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	G	34	5.302733	0.95601	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	D;D	0.91464	-2.85;-2.85	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.96969	0.9010	H	0.95151	3.63	0.80722	D	1	D	0.62365	0.991	D	0.81914	0.995	D	0.98036	1.0379	10	0.87932	D	0	-17.5955	18.9754	0.92733	0.0:0.0:1.0:0.0	.	149	P19447	ERCC3_HUMAN	L	149;85	ENSP00000285398:P149L;ENSP00000444796:P85L	ENSP00000285398:P149L	P	-	2	0	ERCC3	127766681	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.869000	0.99810	2.479000	0.83701	0.655000	0.94253	CCT		0.483	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		5	117	0	0	0	1	0	5	117				
CYP27B1	1594	broad.mit.edu	37	12	58160784	58160784	+	Missense_Mutation	SNP	C	C	T	rs372223837		TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:58160784C>T	ENST00000228606.4	-	1	250	c.41G>A	c.(40-42)cGc>cAc	p.R14H	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	14					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.R14H(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CCAGCGGACGCGATGGAACAC	0.627																																						ENST00000228606.4																			1	Substitution - Missense(1)	p.R14H(1)	prostate(1)	central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(40-42)cGc>cAc		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	C	HIS/ARG	0,4406		0,0,2203	81.0	97.0	92.0		41	4.3	0.9	12		92	2,8598	2.2+/-6.3	0,2,4298	no	missense	CYP27B1	NM_000785.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	14/509	58160784	2,13004	2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58160784C>T	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.41G>A	12.37:g.58160784C>T	ENSP00000228606:p.Arg14His					RP11-571M6.13_ENST00000546609.1_RNA	p.R14H	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		1	250	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		14					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.41G>A	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259482	0.80246	0.0	2.33E-4	ENSG00000111012	ENST00000228606	T	0.76578	-1.03	5.26	4.3	0.51218	.	0.357603	0.29362	N	0.012371	T	0.59891	0.2227	N	0.08118	0	0.24516	N	0.994189	D	0.59767	0.986	P	0.44477	0.451	T	0.56780	-0.7922	10	0.42905	T	0.14	.	10.7297	0.46089	0.3203:0.6797:0.0:0.0	.	14	O15528	CP27B_HUMAN	H	14	ENSP00000228606:R14H	ENSP00000228606:R14H	R	-	2	0	CYP27B1	56447051	0.513000	0.26194	0.852000	0.33557	0.408000	0.30992	4.036000	0.57304	2.729000	0.93468	0.655000	0.94253	CGC		0.627	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		7	190	0	0	0	1	0	7	190				
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1																			7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys					KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		5	166	1	0	0.000602214	1	0.000712825	5	166				
MUC17	140453	broad.mit.edu	37	7	100693835	100693835	+	Silent	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:100693835T>C	ENST00000306151.4	+	7	12857	c.12793T>C	c.(12793-12795)Ttg>Ctg	p.L4265L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4265	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.L4265L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGACAGTATTGGACAATGC	0.463																																						ENST00000306151.4																			1	Substitution - coding silent(1)	p.L4265L(1)	prostate(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(12793-12795)Ttg>Ctg		mucin 17, cell surface associated							165.0	143.0	151.0					7																	100693835		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100693835T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12793T>C	7.37:g.100693835T>C							p.L4265L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			7	12857	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4265			SEA.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.12793T>C	CCDS34711.1																																																																																				0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	90	0	0	0	1	0	8	90				
LAMB1	3912	broad.mit.edu	37	7	107575964	107575964	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:107575964C>T	ENST00000222399.6	-	27	4314	c.4084G>A	c.(4084-4086)Gag>Aag	p.E1362K	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Missense_Mutation_p.E1386K	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1362	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.E1362K(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GATTCTCGCTCCATCATCACG	0.542																																						ENST00000393561.1																			1	Substitution - Missense(1)	p.E1362K(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4156-4158)Gag>Aag		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						332.0	286.0	301.0					7																	107575964		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107575964C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4084G>A	7.37:g.107575964C>T	ENSP00000222399:p.Glu1362Lys					LAMB1_ENST00000222399.6_Missense_Mutation_p.E1362K|LAMB1_ENST00000474380.1_5'UTR	p.E1386K			P07942	LAMB1_HUMAN			25	4340	-			1362			Domain II.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.4156G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919334	0.33908	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.32272	1.47;1.46	5.42	4.52	0.55395	.	.	.	.	.	T	0.29524	0.0736	L	0.54323	1.7	0.80722	D	1	B;B	0.23650	0.009;0.089	B;B	0.29862	0.027;0.108	T	0.08806	-1.0704	9	0.06494	T	0.89	.	15.5551	0.76187	0.1389:0.8611:0.0:0.0	.	1362;1386	P07942;G3XAI2	LAMB1_HUMAN;.	K	1386;1362	ENSP00000377191:E1386K;ENSP00000222399:E1362K	ENSP00000222399:E1362K	E	-	1	0	LAMB1	107363200	1.000000	0.71417	0.887000	0.34795	0.665000	0.39181	5.190000	0.65104	1.479000	0.48272	0.650000	0.86243	GAG		0.542	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		145	302	0	0	0	1	0	145	302				
PALMD	54873	broad.mit.edu	37	1	100152323	100152323	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:100152323C>T	ENST00000263174.4	+	4	718	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	PALMD_ENST00000605497.1_Missense_Mutation_p.R115W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	115					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.R115W(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GTCAATTGAGCGGACAACAGA	0.333																																						ENST00000263174.4																			2	Substitution - Missense(2)	p.R115W(2)	large_intestine(1)|prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(343-345)Cgg>Tgg		palmdelphin							83.0	91.0	88.0					1																	100152323		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100152323C>T	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.343C>T	1.37:g.100152323C>T	ENSP00000263174:p.Arg115Trp					PALMD_ENST00000605497.1_Missense_Mutation_p.R115W	p.R115W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	4	718	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	115					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.343C>T	CCDS758.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772301	0.69992	.	.	ENSG00000099260	ENST00000263174	T	0.17370	2.28	5.87	3.52	0.40303	.	0.191850	0.56097	D	0.000039	T	0.24547	0.0595	L	0.56769	1.78	0.34706	D	0.727288	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.984	T	0.08743	-1.0707	10	0.87932	D	0	-9.4698	13.0487	0.58942	0.735:0.2649:0.0:0.0	.	115;35	Q9NP74;Q9NP74-2	PALMD_HUMAN;.	W	115	ENSP00000263174:R115W	ENSP00000263174:R115W	R	+	1	2	PALMD	99924911	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.301000	0.51842	0.545000	0.28902	-0.262000	0.10625	CGG		0.333	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		25	99	0	0	0	1	0	25	99				
HIST1H2BO	8348	broad.mit.edu	37	6	27861558	27861558	+	Silent	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr6:27861558G>A	ENST00000303806.4	+	1	356	c.318G>A	c.(316-318)gaG>gaA	p.E106E	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	106					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E106E(1)									TGCCCGGGGAGCTGGCCAAGC	0.637																																						ENST00000303806.4																			1	Substitution - coding silent(1)	p.E106E(1)	prostate(1)								c.(316-318)gaG>gaA		histone cluster 1, H2bo							47.0	51.0	49.0					6																	27861558		2203	4299	6502	SO:0001819	synonymous_variant	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861558G>A	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.318G>A	6.37:g.27861558G>A							p.E106E	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN			1	356	+			106					Q3KPI7|Q8TCV6	Silent	SNP	ENST00000303806.4	37	c.318G>A	CCDS4640.1																																																																																				0.637	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		5	64	0	0	0	1	0	5	64				
FHDC1	85462	broad.mit.edu	37	4	153881743	153881743	+	Silent	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:153881743C>T	ENST00000511601.1	+	5	878	c.690C>T	c.(688-690)ggC>ggT	p.G230G	FHDC1_ENST00000260008.3_Silent_p.G230G			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	230	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.							p.G230G(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGTTTAGTGGCGACGTGTCGA	0.373																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	1	Substitution - coding silent(1)	p.G230G(1)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(688-690)ggC>ggT		FH2 domain containing 1							119.0	114.0	116.0					4																	153881743		2203	4300	6503	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153881743C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.690C>T	4.37:g.153881743C>T						FHDC1_ENST00000260008.3_Silent_p.G230G	p.G230G			Q9C0D6	FHDC1_HUMAN			5	878	+	all_hematologic(180;0.093)		230			FH2.			Silent	SNP	ENST00000511601.1	37	c.690C>T	CCDS34081.1																																																																																				0.373	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		19	126	0	0	0	1	0	19	126				
KDM6A	7403	broad.mit.edu	37	X	44938412	44938412	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chrX:44938412A>G	ENST00000377967.4	+	20	3001	c.2960A>G	c.(2959-2961)aAa>aGa	p.K987R	KDM6A_ENST00000543216.1_Missense_Mutation_p.K908R|KDM6A_ENST00000382899.4_Missense_Mutation_p.K994R|KDM6A_ENST00000536777.1_Missense_Mutation_p.K942R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	987	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.K987R(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCTCTACTAAAACTTTGGTG	0.333			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		8	Whole gene deletion(6)|Substitution - Missense(2)	p.0?(6)|p.K987R(2)	prostate(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2959-2961)aAa>aGa		lysine (K)-specific demethylase 6A							73.0	63.0	67.0					X																	44938412		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44938412A>G	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2960A>G	X.37:g.44938412A>G	ENSP00000367203:p.Lys987Arg					KDM6A_ENST00000382899.4_Missense_Mutation_p.K994R|KDM6A_ENST00000536777.1_Missense_Mutation_p.K942R|KDM6A_ENST00000543216.1_Missense_Mutation_p.K908R	p.K987R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			20	3001	+			987					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.2960A>G	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645544	0.87859	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	M	0.72894	2.215	0.80722	D	1	D;D;D;P;P;D	0.89917	0.993;0.974;1.0;0.855;0.932;0.998	D;D;D;P;P;D	0.91635	0.971;0.969;0.999;0.573;0.894;0.995	D	0.85173	0.0999	10	0.87932	D	0	-17.1857	14.6213	0.68588	1.0:0.0:0.0:0.0	.	626;994;942;1039;953;987	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	R	684;987;942;994;908	ENSP00000367203:K987R;ENSP00000437405:K942R;ENSP00000372355:K994R;ENSP00000443078:K908R	ENSP00000334340:K684R	K	+	2	0	KDM6A	44823356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	1.833000	0.53350	0.481000	0.45027	AAA		0.333	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		4	59	0	0	0	1	0	4	59				
CCDC88B	283234	broad.mit.edu	37	11	64116832	64116832	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:64116832G>T	ENST00000356786.5	+	15	2690	c.2646G>T	c.(2644-2646)aaG>aaT	p.K882N	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.K34N	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	882						membrane (GO:0016020)		p.K882N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCGGGGCAAGGAGTTGGGGG	0.627																																						ENST00000356786.5																			1	Substitution - Missense(1)	p.K882N(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2644-2646)aaG>aaT		coiled-coil domain containing 88B							21.0	27.0	25.0					11																	64116832		2198	4296	6494	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64116832G>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2646G>T	11.37:g.64116832G>T	ENSP00000349238:p.Lys882Asn					CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.K34N	p.K882N	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			15	2690	+			882					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.2646G>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	12.58	1.979530	0.34942	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.49720	1.91;0.77	3.68	2.75	0.32379	.	.	.	.	.	T	0.28995	0.0720	N	0.08118	0	0.80722	D	1	B;P;B;B	0.38020	0.201;0.615;0.358;0.201	B;B;B;B	0.40256	0.037;0.324;0.055;0.037	T	0.15292	-1.0442	9	0.72032	D	0.01	.	9.0518	0.36380	0.0:0.0:0.7794:0.2206	.	882;18;531;882	B2RTU8;A6NC98-5;A6NC98-3;A6NC98	.;.;.;CC88B_HUMAN	N	882;882;34	ENSP00000349238:K882N;ENSP00000352974:K34N	ENSP00000349238:K882N	K	+	3	2	CCDC88B	63873408	0.999000	0.42202	0.996000	0.52242	0.299000	0.27559	3.781000	0.55394	0.848000	0.35191	0.539000	0.68188	AAG		0.627	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		3	18	1	0	0.115264	1	0.117286	3	18				
UBQLN1	29979	broad.mit.edu	37	9	86293369	86293369	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr9:86293369G>A	ENST00000376395.4	-	5	1380	c.857C>T	c.(856-858)gCt>gTt	p.A286V	UBQLN1_ENST00000257468.7_Missense_Mutation_p.A286V	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	286					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)	p.A286V(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CTCTTGTGCAGCACTCAGCAT	0.458																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			1	Substitution - Missense(1)	p.A286V(1)	prostate(1)	breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(856-858)gCt>gTt		ubiquilin 1							210.0	197.0	201.0					9																	86293369		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86293369G>A	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.857C>T	9.37:g.86293369G>A	ENSP00000365576:p.Ala286Val					UBQLN1_ENST00000257468.7_Missense_Mutation_p.A286V	p.A286V	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			5	1380	-			286					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.857C>T	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353854	0.95830	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80480	-1.38;-1.38;-1.38	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.92028	0.7474	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.993	D	0.92603	0.6093	10	0.59425	D	0.04	.	19.7958	0.96481	0.0:0.0:1.0:0.0	.	286;286	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	V	286;286;83	ENSP00000365576:A286V;ENSP00000257468:A286V;ENSP00000434194:A83V	ENSP00000257468:A286V	A	-	2	0	UBQLN1	85483189	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.242000	0.95408	2.669000	0.90835	0.563000	0.77884	GCT		0.458	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		5	385	0	0	0	1	0	5	385				
COL5A3	50509	broad.mit.edu	37	19	10104082	10104082	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr19:10104082C>T	ENST00000264828.3	-	19	1808	c.1723G>A	c.(1723-1725)Ggt>Agt	p.G575S	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	575	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.G575S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGGGGGACCGGGTTGCCCC	0.567																																						ENST00000264828.3																			1	Substitution - Missense(1)	p.G575S(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(1723-1725)Ggt>Agt		collagen, type V, alpha 3							111.0	117.0	115.0					19																	10104082		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10104082C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1723G>A	19.37:g.10104082C>T	ENSP00000264828:p.Gly575Ser						p.G575S	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		19	1808	-			575			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1723G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109160	0.94292	.	.	ENSG00000080573	ENST00000264828	D	0.97888	-4.59	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	D	0.99102	0.9691	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99383	1.0923	10	0.72032	D	0.01	.	17.0482	0.86510	0.0:1.0:0.0:0.0	.	575	P25940	CO5A3_HUMAN	S	575	ENSP00000264828:G575S	ENSP00000264828:G575S	G	-	1	0	COL5A3	9965082	1.000000	0.71417	0.933000	0.37362	0.813000	0.45954	6.531000	0.73820	2.634000	0.89283	0.563000	0.77884	GGT		0.567	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		6	256	0	0	0	1	0	6	256				
ACVR2A	92	broad.mit.edu	37	2	148683686	148683686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:148683686delA	ENST00000241416.7	+	10	1939	c.1303delA	c.(1303-1305)aaafs	p.K437fs	ACVR2A_ENST00000535787.1_Frame_Shift_Del_p.K329fs|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.K437fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	437	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTTGTGCATAAAAAAAAGAG	0.368																																						ENST00000241416.7																			3	Deletion - Frameshift(3)	p.K437fs*5(3)	large_intestine(2)|ovary(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(1303-1305)aafs		activin A receptor, type IIA							156.0	129.0	138.0					2																	148683686		2203	4299	6502	SO:0001589	frameshift_variant	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148683686delA		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1303delA	2.37:g.148683686delA	ENSP00000241416:p.Lys437fs					ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.K437fs|ACVR2A_ENST00000535787.1_Frame_Shift_Del_p.K329fs	p.K437fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	10	1939	+			437			Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Del	DEL	ENST00000241416.7	37	c.1303delA	CCDS33301.1																																																																																				0.368	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		7	161						7	161	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179506008	179506008	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:179506008delT	ENST00000591111.1	-	170	35894	c.35670delA	c.(35668-35670)aaafs	p.K11890fs	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.K13531fs|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.K4466fs|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.K4658fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K10963fs|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K4591fs			Q8WZ42	TITIN_HUMAN	titin	11890	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTTCTACTTTAGGTTCTT	0.289																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(40591-40593)aafs		titin							101.0	89.0	92.0					2																	179506008		1755	3996	5751	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179506008delT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35670delA	2.37:g.179506008delT	ENSP00000465570:p.Lys11890fs					TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.K11890fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.K4658fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.K4466fs|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K4591fs|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.K10963fs	p.K13531fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		220	40817	-			11890			Ig-like 91.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.40593delA																																																																																					0.289	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		2	4						2	4	---	---	---	---
SCD	6319	broad.mit.edu	37	10	102104600	102104601	+	5'Flank	INS	-	-	T	rs373775876|rs372515653		TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr10:102104600_102104601insT	ENST00000370355.2	+	0	0				RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)						fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		AAAAATCACAAttttttttttt	0.401																																					Colon(67;260 1459 9574 11663)	ENST00000429420.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr10:102104600_102104601insT	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906		10.37:g.102104611_102104611dupT	Exception_encountered													0	103	-								B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	RNA	INS	ENST00000370355.2	37		CCDS7493.1																																																																																				0.401	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		4	8						4	8	---	---	---	---
LARP4	113251	broad.mit.edu	37	12	50847266	50847267	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:50847266_50847267insT	ENST00000398473.2	+	9	940_941	c.828_829insT	c.(829-831)tttfs	p.F277fs	LARP4_ENST00000518561.1_Frame_Shift_Ins_p.F207fs|LARP4_ENST00000429001.3_Frame_Shift_Ins_p.F283fs|LARP4_ENST00000293618.8_Frame_Shift_Ins_p.F277fs|LARP4_ENST00000518444.1_Frame_Shift_Ins_p.F276fs|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000522085.1_Frame_Shift_Ins_p.F277fs	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	277	RRM.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCATCAATACATTTTTTGCTAA	0.322																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(826-831)acttttfs		La ribonucleoprotein domain family, member 4																																				SO:0001589	frameshift_variant	113251						nucleotide binding|RNA binding	g.chr12:50847266_50847267insT	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.834dupT	12.37:g.50847272_50847272dupT	ENSP00000381490:p.Phe277fs					LARP4_ENST00000293618.8_Frame_Shift_Ins_p.TF276fs|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000522085.1_Frame_Shift_Ins_p.TF276fs|LARP4_ENST00000518561.1_Frame_Shift_Ins_p.TF206fs|LARP4_ENST00000518444.1_Frame_Shift_Ins_p.TF275fs|LARP4_ENST00000429001.3_Frame_Shift_Ins_p.TF282fs	p.TF276fs	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			9	940_941	+			276			RRM.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Frame_Shift_Ins	INS	ENST00000398473.2	37	c.828_829insT	CCDS41782.1																																																																																				0.322	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		7	170						7	170	---	---	---	---
LINC00430	106144533	broad.mit.edu	37	13	87574502	87574503	+	lincRNA	DEL	GT	GT	-	rs375909053|rs574011477	byFrequency	TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr13:87574502_87574503delGT	ENST00000457672.2	+	0	64									long intergenic non-protein coding RNA 430																		cgtaatgttcgtgtgtgtgtgt	0.366																																						ENST00000457672.2																			0																																																			0							g.chr13:87574502_87574503delGT	AW661815		13q31.1	2013-08-08			ENSG00000233528	ENSG00000233528		"""Long non-coding RNAs"""	42765	non-coding RNA	RNA, long non-coding							Standard			Approved	TCONS_00021581			OTTHUMG00000017162		13.37:g.87574512_87574513delGT														0	64	+									RNA	DEL	ENST00000457672.2	37																																																																																						0.366	LINC00430-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000045409.2			3	3						3	3	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			10	78						10	78	---	---	---	---
