#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
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			3	71	0	0	0	1	0	3	71				
TNS3	64759	broad.mit.edu	37	7	47344521	47344521	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr7:47344521G>A	ENST00000398879.1	-	21	3097	c.2731C>T	c.(2731-2733)Cgg>Tgg	p.R911W	TNS3_ENST00000355730.3_Missense_Mutation_p.R671W|TNS3_ENST00000311160.9_Missense_Mutation_p.R911W			Q68CZ2	TENS3_HUMAN	tensin 3	911					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCATCAGCCCGGAGCATCGTG	0.587																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2731-2733)Cgg>Tgg		tensin 3							64.0	73.0	70.0					7																	47344521		2136	4260	6396	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47344521G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2731C>T	7.37:g.47344521G>A	ENSP00000381854:p.Arg911Trp					TNS3_ENST00000355730.3_Missense_Mutation_p.R671W|TNS3_ENST00000311160.9_Missense_Mutation_p.R911W	p.R911W			Q68CZ2	TENS3_HUMAN			21	3097	-			911					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2731C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603451	0.66445	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.95103	-3.1;-3.1;-3.61;-3.24	5.55	2.22	0.28083	.	0.864875	0.10313	N	0.689678	D	0.91181	0.7222	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.50378	0.639	D	0.86186	0.1609	10	0.72032	D	0.01	-7.0276	2.1968	0.03913	0.1277:0.2032:0.4931:0.1761	.	911	Q68CZ2	TENS3_HUMAN	W	911;1021;911;671;367;1014	ENSP00000312143:R911W;ENSP00000381854:R911W;ENSP00000347968:R671W;ENSP00000414358:R1014W	ENSP00000312143:R911W	R	-	1	2	TNS3	47311046	0.787000	0.28750	0.963000	0.40424	0.542000	0.35054	1.792000	0.38754	0.508000	0.28173	0.655000	0.94253	CGG		0.587	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		3	29	0	0	0	1	0	3	29				
RBM24	221662	broad.mit.edu	37	6	17283076	17283076	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr6:17283076A>T	ENST00000379052.5	+	2	445	c.209A>T	c.(208-210)aAg>aTg	p.K70M	RBM24_ENST00000318204.5_Missense_Mutation_p.K25M|RBM24_ENST00000425446.2_Missense_Mutation_p.K12M	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	70	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			AGGGCCTGCAAGGATCCCAAT	0.483																																						ENST00000379052.5																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13						c.(208-210)aAg>aTg		RNA binding motif protein 24							115.0	96.0	102.0					6																	17283076		2203	4300	6503	SO:0001583	missense	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17283076A>T	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.209A>T	6.37:g.17283076A>T	ENSP00000368341:p.Lys70Met					RBM24_ENST00000425446.2_Missense_Mutation_p.K12M|RBM24_ENST00000318204.5_Missense_Mutation_p.K25M	p.K70M	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		2	445	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	70			RRM.		E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	37	c.209A>T	CCDS47378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.95|19.95	3.922098|3.922098	0.73213|0.73213	.|.	.|.	ENSG00000112183|ENSG00000112183	ENST00000379052;ENST00000509686;ENST00000425446;ENST00000318204|ENST00000503965	T;T;T;T|.	0.24908|.	2.24;2.93;1.83;3.24|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.162995|.	0.52532|.	D|.	0.000075|.	T|T	0.60011|0.60011	0.2236|0.2236	L|L	0.58969|0.58969	1.84|1.84	0.80722|0.80722	D|D	1|1	D;B;B|.	0.64830|.	0.994;0.146;0.146|.	D;B;B|.	0.64144|.	0.922;0.155;0.155|.	T|T	0.61287|0.61287	-0.7093|-0.7093	10|5	0.44086|.	T|.	0.13|.	-5.9856|-5.9856	14.4065|14.4065	0.67086|0.67086	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	25;70;70|.	Q9BX46-2;Q9BX46;A8KAI7|.	.;RBM24_HUMAN;.|.	M|W	70;29;12;25|35	ENSP00000368341:K70M;ENSP00000426222:K29M;ENSP00000396898:K12M;ENSP00000319551:K25M|.	ENSP00000319551:K25M|.	K|R	+|+	2|1	0|2	RBM24|RBM24	17391055|17391055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.089000|9.089000	0.94137|0.94137	1.807000|1.807000	0.52817|0.52817	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.483	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		3	43	0	0	0	1	0	3	43				
PKP4	8502	broad.mit.edu	37	2	159517885	159517885	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr2:159517885C>T	ENST00000389759.3	+	13	2246	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.R712W	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	712					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GAAGCAAATGCGGTCCTGCGA	0.577										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(2134-2136)Cgg>Tgg		plakophilin 4							94.0	90.0	91.0					2																	159517885		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159517885C>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2134C>T	2.37:g.159517885C>T	ENSP00000374409:p.Arg712Trp	HNSCC(62;0.18)				AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.R712W	p.R712W	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			13	2259	+			712					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.2134C>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359418	0.82353	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.81415	-1.49;-1.49	5.48	3.36	0.38483	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.91778	0.5433	10	0.87932	D	0	-11.2699	12.0373	0.53433	0.5731:0.4269:0.0:0.0	.	667;712;712;563	Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	W	563;712;712	ENSP00000374407:R712W;ENSP00000374409:R712W	ENSP00000374407:R712W	R	+	1	2	PKP4	159226131	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	3.172000	0.50832	1.404000	0.46819	0.591000	0.81541	CGG		0.577	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			3	47	0	0	0	1	0	3	47				
AHNAK	79026	broad.mit.edu	37	11	62288421	62288421	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr11:62288421C>T	ENST00000378024.4	-	5	13742	c.13468G>A	c.(13468-13470)Ggg>Agg	p.G4490R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4490					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACCTCTGGCCCTTTCAGATCA	0.453																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13468-13470)Ggg>Agg		AHNAK nucleoprotein							92.0	87.0	88.0					11																	62288421		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288421C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13468G>A	11.37:g.62288421C>T	ENSP00000367263:p.Gly4490Arg					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G4490R	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	13742	-		Melanoma(852;0.155)	4490					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13468G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591957	0.46214	.	.	ENSG00000124942	ENST00000378024	T	0.02890	4.12	5.12	4.21	0.49690	.	0.701493	0.11600	N	0.547894	T	0.20088	0.0483	H	0.94808	3.585	0.20975	N	0.999811	D	0.71674	0.998	D	0.72075	0.976	T	0.41142	-0.9525	10	0.12103	T	0.63	.	13.4863	0.61369	0.0:0.9235:0.0:0.0765	.	4490	Q09666	AHNK_HUMAN	R	4490	ENSP00000367263:G4490R	ENSP00000367263:G4490R	G	-	1	0	AHNAK	62044997	0.002000	0.14202	0.043000	0.18650	0.955000	0.61496	1.838000	0.39211	1.292000	0.44672	0.643000	0.83706	GGG		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		36	53	0	0	0	1	0	36	53				
EPAS1	2034	broad.mit.edu	37	2	46607400	46607400	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr2:46607400C>T	ENST00000263734.3	+	12	2099	c.1589C>T	c.(1588-1590)gCa>gTa	p.A530V		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	530	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GAGACACTGGCACCCTATATC	0.592																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1588-1590)gCa>gTa		endothelial PAS domain protein 1							86.0	94.0	91.0					2																	46607400		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607400C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1589C>T	2.37:g.46607400C>T	ENSP00000263734:p.Ala530Val						p.A530V	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2099	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	530			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1589C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420544	0.96111	.	.	ENSG00000116016	ENST00000263734	D	0.98150	-4.75	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99873	1.1099	10	0.87932	D	0	.	18.4411	0.90666	0.0:1.0:0.0:0.0	.	530	Q99814	EPAS1_HUMAN	V	530	ENSP00000263734:A530V	ENSP00000263734:A530V	A	+	2	0	EPAS1	46460904	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.814000	0.86154	2.361000	0.80049	0.491000	0.48974	GCA		0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		34	80	0	0	0	1	0	34	80				
MRVI1	10335	broad.mit.edu	37	11	10602002	10602002	+	Splice_Site	SNP	C	C	T			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr11:10602002C>T	ENST00000436272.1	-	19	2492	c.2414G>A	c.(2413-2415)aGc>aAc	p.S805N	MRVI1_ENST00000547195.1_Splice_Site_p.S741N|MRVI1_ENST00000541483.1_Splice_Site_p.S626N|MRVI1_ENST00000424001.1_Splice_Site_p.S517N|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000552103.1_Splice_Site_p.S741N|MRVI1_ENST00000545852.1_Splice_Site_p.S517N|MRVI1_ENST00000558540.1_Splice_Site_p.S517N|MRVI1_ENST00000423302.2_Splice_Site_p.S832N|MRVI1_ENST00000421747.1_Splice_Site_p.S823N|LYVE1_ENST00000531706.1_Intron|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000527509.2_Splice_Site_p.S741N|MRVI1_ENST00000531107.1_Splice_Site_p.S824N|MRVI1_ENST00000534266.2_Splice_Site_p.S517N			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	805	Glu-rich.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGCTTCCCACCTGCTTCTTGG	0.488																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.e19+1		murine retrovirus integration site 1 homolog							288.0	289.0	289.0					11																	10602002		1878	4088	5966	SO:0001630	splice_region_variant	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10602002C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2414+1G>A	11.37:g.10602002C>T						MRVI1_ENST00000545852.1_Splice_Site_p.S517_splice|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000558540.1_Splice_Site_p.S517_splice|MRVI1_ENST00000423302.2_Splice_Site_p.S832_splice|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Splice_Site_p.S741_splice|MRVI1_ENST00000541483.1_Splice_Site_p.S626_splice|MRVI1_ENST00000531107.1_Splice_Site_p.S824_splice|MRVI1_ENST00000527509.2_Splice_Site_p.S741_splice|MRVI1_ENST00000436272.1_Splice_Site_p.S805_splice|MRVI1_ENST00000421747.1_Splice_Site_p.S823_splice|MRVI1_ENST00000534266.2_Splice_Site_p.S517_splice|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000424001.1_Splice_Site_p.S517_splice	p.S741_splice	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	19	2722	-			805					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Splice_Site	SNP	ENST00000436272.1	37	c.2222_splice		.	.	.	.	.	.	.	.	.	.	C	16.57	3.160861	0.57368	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.34	4.41	0.53225	.	0.162599	0.53938	D	0.000045	T	0.13927	0.0337	L	0.33485	1.01	0.49582	D	0.999807	B;B;B;B	0.31931	0.347;0.121;0.121;0.099	B;B;B;B	0.30105	0.085;0.066;0.111;0.067	T	0.06356	-1.0831	9	.	.	.	-12.544	15.1033	0.72299	0.143:0.8569:0.0:0.0	.	626;805;824;823	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	N	823;806;805;741;741;517;517;832;626;824;741	ENSP00000414598:S823N;ENSP00000412229:S805N;ENSP00000448278:S741N;ENSP00000446764:S741N;ENSP00000441971:S517N;ENSP00000401205:S517N;ENSP00000412130:S832N;ENSP00000437784:S626N;ENSP00000432436:S824N;ENSP00000432067:S741N	.	S	-	2	0	MRVI1	10558578	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.969000	0.63735	1.324000	0.45282	0.655000	0.94253	AGC		0.488	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579	Missense_Mutation	4	169	0	0	0	1	0	4	169				
RNF168	165918	broad.mit.edu	37	3	196199525	196199525	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr3:196199525A>G	ENST00000318037.3	-	6	1475	c.881T>C	c.(880-882)aTa>aCa	p.I294T	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	294					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		AGGGGACTCTATTGAAGAATC	0.458																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(880-882)aTa>aCa		ring finger protein 168, E3 ubiquitin protein ligase							127.0	122.0	124.0					3																	196199525		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196199525A>G	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.881T>C	3.37:g.196199525A>G	ENSP00000320898:p.Ile294Thr						p.I294T	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	6	1475	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		294					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.881T>C	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	A	1.574	-0.533307	0.04082	.	.	ENSG00000163961	ENST00000318037	T	0.07114	3.22	5.86	2.2	0.27929	.	2.505920	0.01098	N	0.005301	T	0.05823	0.0152	N	0.04959	-0.14	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41179	-0.9523	10	0.27785	T	0.31	1.2268	9.6306	0.39776	0.7745:0.0:0.2255:0.0	.	294	Q8IYW5	RN168_HUMAN	T	294	ENSP00000320898:I294T	ENSP00000320898:I294T	I	-	2	0	RNF168	197683922	0.072000	0.21174	0.000000	0.03702	0.001000	0.01503	0.950000	0.29122	-0.077000	0.12752	-1.431000	0.01090	ATA		0.458	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		13	37	0	0	0	1	0	13	37				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			28313							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			6	80	0	0	0	1	0	6	80				
TGFBR3	7049	broad.mit.edu	37	1	92174280	92174280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr1:92174280G>A	ENST00000525962.1	-	13	2288	c.2227C>T	c.(2227-2229)Cag>Tag	p.Q743*	TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.Q742*|TGFBR3_ENST00000212355.4_Nonsense_Mutation_p.Q743*			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	743	Interaction with TGF-beta ligand. {ECO:0000250}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TTCTTATTCTGCATCATGGCC	0.547																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2227-2229)Cag>Tag		transforming growth factor, beta receptor III							116.0	95.0	102.0					1																	92174280		2203	4300	6503	SO:0001587	stop_gained	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92174280G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2227C>T	1.37:g.92174280G>A	ENSP00000436127:p.Gln743*					TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.Q742*|TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.Q743*	p.Q743*	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	14	2692	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	743					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Nonsense_Mutation	SNP	ENST00000525962.1	37	c.2227C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	40	8.483481	0.98832	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	.	.	.	5.68	5.68	0.88126	.	0.167779	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-14.6293	19.3902	0.94578	0.0:0.0:1.0:0.0	.	.	.	.	X	743;742;743;742	.	ENSP00000212355:Q743X	Q	-	1	0	TGFBR3	91946868	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.347000	0.65998	2.698000	0.92095	0.561000	0.74099	CAG		0.547	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		9	38	0	0	0	1	0	9	38				
ALMS1	7840	broad.mit.edu	37	2	73717628	73717628	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr2:73717628G>A	ENST00000264448.6	+	10	8650	c.8539G>A	c.(8539-8541)Ggc>Agc	p.G2847S	ALMS1_ENST00000409009.1_Missense_Mutation_p.G2805S|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2847					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TATTAGCATGGGCAGACCAAG	0.403																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(8539-8541)Ggc>Agc		Alstrom syndrome 1							72.0	68.0	69.0					2																	73717628		1884	4095	5979	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717628G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8539G>A	2.37:g.73717628G>A	ENSP00000264448:p.Gly2847Ser					ALMS1_ENST00000409009.1_Missense_Mutation_p.G2805S	p.G2847S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	8650	+			2847					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.8539G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	7.203	0.593893	0.13875	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.05855	3.38;3.38	4.54	-3.88	0.04205	.	0.753644	0.11847	N	0.523756	T	0.02888	0.0086	N	0.11560	0.145	0.19945	N	0.999943	B;B;B	0.17038	0.02;0.007;0.007	B;B;B	0.19946	0.027;0.027;0.027	T	0.43540	-0.9385	10	0.27082	T	0.32	.	6.6018	0.22705	0.6106:0.0:0.2478:0.1416	.	2847;2805;2847	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	2805;2847	ENSP00000386627:G2805S;ENSP00000264448:G2847S	ENSP00000264448:G2847S	G	+	1	0	ALMS1	73571136	0.003000	0.15002	0.003000	0.11579	0.992000	0.81027	-0.100000	0.10990	-0.938000	0.03714	-0.145000	0.13849	GGC		0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		13	31	0	0	0	1	0	13	31				
HNRNPM	4670	broad.mit.edu	37	19	8550640	8550640	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr19:8550640G>A	ENST00000325495.4	+	14	1369	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R404H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	443	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GTCATGGACCGCATGGGCTCC	0.711																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1210-1212)cGc>cAc		heterogeneous nuclear ribonucleoprotein M							64.0	69.0	67.0					19																	8550640		2203	4298	6501	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550640G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1328G>A	19.37:g.8550640G>A	ENSP00000325376:p.Arg443His					HNRNPM_ENST00000325495.4_Missense_Mutation_p.R443H	p.R404H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1443	+			443			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1211G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247682	0.95305	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.18960	2.18;2.51	5.76	5.76	0.90799	.	0.102866	0.64402	D	0.000001	T	0.48259	0.1490	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.992;0.994	D;D;P;P	0.66979	0.926;0.948;0.599;0.719	T	0.46119	-0.9214	10	0.87932	D	0	.	18.534	0.91002	0.0:0.0:1.0:0.0	.	283;443;404;328	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	H	443;404;328	ENSP00000325376:R443H;ENSP00000325732:R404H	ENSP00000325376:R443H	R	+	2	0	HNRNPM	8456640	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.508000	0.81686	2.724000	0.93272	0.491000	0.48974	CGC		0.711	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			5	154	0	0	0	1	0	5	154				
EMC1	23065	broad.mit.edu	37	1	19559123	19559123	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr1:19559123C>T	ENST00000477853.1	-	15	1819	c.1777G>A	c.(1777-1779)Gac>Aac	p.D593N	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.D571N|EMC1_ENST00000375199.3_Missense_Mutation_p.D592N	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	593						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CTCACCTTGTCCTTCACCAGC	0.488																																						ENST00000477853.1																			0											c.(1777-1779)Gac>Aac		ER membrane protein complex subunit 1							161.0	160.0	160.0					1																	19559123		2203	4300	6503	SO:0001583	missense	23065							g.chr1:19559123C>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1777G>A	1.37:g.19559123C>T	ENSP00000420608:p.Asp593Asn					RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.D592N|EMC1_ENST00000375208.3_Missense_Mutation_p.D571N	p.D593N	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					15	1819	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.1777G>A	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.021290|4.021290	0.75275|0.75275	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.23348|.	1.91;1.91;1.91|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67306|0.67306	0.2879|0.2879	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	P;B;D;D|.	0.63880|.	0.589;0.383;0.993;0.988|.	B;B;D;P|.	0.63033|.	0.236;0.155;0.91;0.815|.	T|T	0.60546|0.60546	-0.7242|-0.7242	10|5	0.37606|.	T|.	0.19|.	.|.	19.1391|19.1391	0.93441|0.93441	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	571;592;592;593|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	N|E	593;592;571|326	ENSP00000420608:D593N;ENSP00000364345:D592N;ENSP00000364354:D571N|.	ENSP00000364345:D592N|.	D|G	-|-	1|2	0|0	KIAA0090|KIAA0090	19431710|19431710	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	7.280000|7.280000	0.78610|0.78610	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	GAC|GGA		0.488	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		30	71	0	0	0	1	0	30	71				
MUC17	140453	broad.mit.edu	37	7	100682744	100682744	+	Missense_Mutation	SNP	C	C	T	rs71286275		TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr7:100682744C>T	ENST00000306151.4	+	3	8111	c.8047C>T	c.(8047-8049)Cca>Tca	p.P2683S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2683	59 X approximate tandem repeats.|Ser-rich.				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.P2683S(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)					TAGCAGCATGCCAACCTCAAC	0.493																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2683S(1)	urinary_tract(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.(8047-8049)Cca>Tca		mucin 17, cell surface associated							225.0	230.0	228.0					7																	100682744		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682744C>T	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.8047C>T	7.37:g.100682744C>T	ENSP00000302716:p.Pro2683Ser						p.P2683S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8111	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2683			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8047C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.606	0.112671	0.08831	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04880	-0.145	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.25745	-1.0123	9	0.08599	T	0.76	.	0.3885	0.00406	0.2439:0.3108:0.2431:0.2021	.	2683	Q685J3	MUC17_HUMAN	S	2683	ENSP00000302716:P2683S	ENSP00000302716:P2683S	P	+	1	0	MUC17	100469464	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.262000	0.01175	-0.688000	0.05155	0.134000	0.15878	CCA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	293	0	0	0	1	0	5	293				
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			440926							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			5	6						5	6	---	---	---	---
CLIP3	25999	broad.mit.edu	37	19	36523167	36523167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr19:36523167delG	ENST00000360535.4	-	2	320	c.93delC	c.(91-93)cccfs	p.P31fs	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Frame_Shift_Del_p.P31fs	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	31					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGTGGGGCTGGGGGCCTCGG	0.662																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(91-93)ccfs		CAP-GLY domain containing linker protein 3							4.0	6.0	5.0					19																	36523167		2123	4170	6293	SO:0001589	frameshift_variant	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36523167delG	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.93delC	19.37:g.36523167delG	ENSP00000353732:p.Pro31fs					AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Frame_Shift_Del_p.P31fs	p.P31fs	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	320	-	Esophageal squamous(110;0.162)		31					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Frame_Shift_Del	DEL	ENST00000360535.4	37	c.93delC	CCDS12486.1																																																																																				0.662	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		2	4						2	4	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			2	4						2	4	---	---	---	---
AMMECR1	9949	broad.mit.edu	37	X	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chrX:109561058_109561060delCCG	ENST00000262844.5	-	1	407_409	c.240_242delCGG	c.(238-243)ggcggg>ggg	p.80_81GG>G	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_In_Frame_Del_p.80_81GG>G|AMMECR1_ENST00000496695.1_5'Flank	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(238-243)ggg>gg		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1			,,	57,2761		4,39,10,1217,288					,,	4.4	1.0			10	122,4848		9,60,44,1818,1152	no	coding,utr-5,coding	AMMECR1	NM_015365.2,NM_001171689.1,NM_001025580.1	,,	13,99,54,3035,1440	A1A1,A1R,A1,RR,R		2.4547,2.0227,2.2984	,,	,,		179,7609				SO:0001651	inframe_deletion	9949							g.chrX:109561058_109561060delCCG	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.240_242delCGG	X.37:g.109561067_109561069delCCG	ENSP00000262844:p.Gly82del					AMMECR1_ENST00000372059.2_In_Frame_Del_p.GG80del|AMMECR1_ENST00000372057.1_5'UTR	p.GG80del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			1	407_409	-			80			Gly/Ser-rich.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	In_Frame_Del	DEL	ENST00000262844.5	37	c.240_242delCGG	CCDS14551.1																																																																																				0.734	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			2	4						2	4	---	---	---	---
