#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CSMD2	114784	broad.mit.edu	37	1	34006159	34006159	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:34006159A>C	ENST00000373381.4	-	60	9773	c.9597T>G	c.(9595-9597)aaT>aaG	p.N3199K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3175	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCAGGACCCATTTCCCTCAC	0.582																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(9595-9597)aaT>aaG		CUB and Sushi multiple domains 2							113.0	96.0	102.0					1																	34006159		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34006159A>C	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9597T>G	1.37:g.34006159A>C	ENSP00000362479:p.Asn3199Lys		Somatic					p.N3199K	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			60	9773	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3175			Sushi 26.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9597T>G		.	.	.	.	.	.	.	.	.	.	A	18.53	3.644687	0.67358	.	.	ENSG00000121904	ENST00000373381	T	0.67523	-0.27	5.67	-8.07	0.01098	Complement control module (2);Sushi/SCR/CCP (3);	0.109417	0.64402	D	0.000008	T	0.65354	0.2683	M	0.80982	2.52	0.80722	D	1	B;P	0.36837	0.221;0.571	B;B	0.42959	0.403;0.403	T	0.67945	-0.5539	10	0.49607	T	0.09	.	13.1143	0.59292	0.679:0.0844:0.2365:0.0	.	3055;3199	Q7Z408;E7EUA6	CSMD2_HUMAN;.	K	3199	ENSP00000362479:N3199K	ENSP00000241312:N3055K	N	-	3	2	CSMD2	33778746	0.029000	0.19370	0.527000	0.27925	0.891000	0.51852	-0.573000	0.05874	-1.674000	0.01461	-0.464000	0.05259	AAT		0.582	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		12	42	12	42	---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45295346	45295346	+	Silent	SNP	A	A	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:45295346A>T	ENST00000372192.3	-	8	1153	c.1023T>A	c.(1021-1023)atT>atA	p.I341I	PTCH2_ENST00000447098.2_Silent_p.I341I	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	341					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACTCCAGCCAATGTCATGTG	0.612									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1021-1023)atT>atA		patched 2							89.0	88.0	89.0					1																	45295346		2203	4300	6503	SO:0001819	synonymous_variant	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45295346A>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1023T>A	1.37:g.45295346A>T			Somatic				PTCH2_ENST00000372192.3_Silent_p.I341I	p.I341I	NM_001166292.1	NP_001159764.1	WXS	Illumina GAIIx	Phase_I	Q9Y6C5	PTC2_HUMAN			8	1034	-	Acute lymphoblastic leukemia(166;0.155)		341					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.1023T>A	CCDS516.1																																																																																				0.612	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		7	71	7	71	---	---	---	---
CD160	11126	broad.mit.edu	37	1	145699056	145699056	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:145699056T>G	ENST00000369288.2	-	5	652	c.435A>C	c.(433-435)caA>caC	p.Q145H	CD160_ENST00000401557.3_Missense_Mutation_p.Q145H|CD160_ENST00000369290.1_Missense_Mutation_p.Q36H|CD160_ENST00000235933.6_Missense_Mutation_p.Q145H	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	145					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGTGTTGTCTTTGTTTCAATC	0.468																																					Colon(182;1122 1999 4065 44014 53024)	ENST00000369290.1																			0				endometrium(3)|large_intestine(2)|lung(2)	7						c.(106-108)caA>caC		CD160 molecule							192.0	147.0	162.0					1																	145699056		2203	4300	6503	SO:0001583	missense	11126				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding	g.chr1:145699056T>G	AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"""CD molecules"""	17013	protein-coding gene	gene with protein product		604463	"""CD160 antigen"""			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.435A>C	1.37:g.145699056T>G	ENSP00000358294:p.Gln145His		Somatic				CD160_ENST00000369288.2_Missense_Mutation_p.Q145H|CD160_ENST00000401557.3_Missense_Mutation_p.Q145H|CD160_ENST00000235933.6_Missense_Mutation_p.Q145H	p.Q36H			WXS	Illumina GAIIx	Phase_I	O95971	BY55_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		3	265	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		145			Ig-like V-type.			Missense_Mutation	SNP	ENST00000369288.2	37	c.108A>C	CCDS923.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415160	0.25552	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000369290;ENST00000401557	T;T;T	0.47177	0.85;0.85;0.85	4.54	-2.96	0.05547	.	0.858235	0.09723	N	0.764140	T	0.09335	0.0230	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.12837	0.008;0.003	T	0.28808	-1.0032	10	0.48119	T	0.1	3.0749	2.9871	0.05971	0.1471:0.0907:0.453:0.3092	.	36;145	Q5T2V6;O95971	.;BY55_HUMAN	H	145;145;36;145	ENSP00000235933:Q145H;ENSP00000358294:Q145H;ENSP00000385199:Q145H	ENSP00000235933:Q145H	Q	-	3	2	CD160	144410413	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.209000	0.09358	-0.257000	0.09459	0.533000	0.62120	CAA		0.468	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	NM_007053		15	71	15	71	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186056778	186056778	+	Splice_Site	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:186056778G>A	ENST00000271588.4	+	60	9592		c.e60+1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAGCTGAGGTGCATCTTTT	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e60+1		hemicentin 1							83.0	82.0	82.0					1																	186056778		2202	4299	6501	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186056778G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9363+1G>A	1.37:g.186056778G>A			Somatic				HMCN1_ENST00000367492.2_Splice_Site		NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			60	9592	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37		CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699882	0.88924	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3045	0.94155	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184323401	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.430000	0.97488	2.612000	0.88384	0.655000	0.94253	.		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Intron	24	64	24	64	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229773318	229773318	+	Silent	SNP	T	T	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr1:229773318T>A	ENST00000258243.2	+	4	3094	c.2958T>A	c.(2956-2958)ctT>ctA	p.L986L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	986						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTAGGTTCCTTATTGAGATGG	0.443																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(2956-2958)ctT>ctA		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							157.0	146.0	150.0					1																	229773318		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229773318T>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2958T>A	1.37:g.229773318T>A			Somatic					p.L986L	NM_014777.2	NP_055592.2	WXS	Illumina GAIIx	Phase_I	Q14146	URB2_HUMAN			4	3094	+			986					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.2958T>A	CCDS31052.1																																																																																				0.443	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		14	125	14	125	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196852857	196852857	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr2:196852857T>A	ENST00000312428.6	-	13	1550	c.1450A>T	c.(1450-1452)Agt>Tgt	p.S484C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	484	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGTGCCACACTCTCTTTCATA	0.373																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(1450-1452)Agt>Tgt		dynein, axonemal, heavy chain 7							89.0	81.0	84.0					2																	196852857		1847	4101	5948	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196852857T>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1450A>T	2.37:g.196852857T>A	ENSP00000311273:p.Ser484Cys		Somatic					p.S484C	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			13	1550	-			484			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.1450A>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	8.144	0.785785	0.16189	.	.	ENSG00000118997	ENST00000312428	T	0.23147	1.92	5.59	5.59	0.84812	.	0.113728	0.56097	D	0.000027	T	0.32556	0.0833	M	0.76002	2.32	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.06991	-1.0796	10	0.38643	T	0.18	.	15.4307	0.75092	0.0:0.0:0.0:1.0	.	484	Q8WXX0	DYH7_HUMAN	C	484	ENSP00000311273:S484C	ENSP00000311273:S484C	S	-	1	0	DNAH7	196561102	1.000000	0.71417	0.991000	0.47740	0.066000	0.16364	2.799000	0.47892	2.126000	0.65437	0.528000	0.53228	AGT		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	80	4	80	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907134	164907134	+	Silent	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr3:164907134G>A	ENST00000475390.1	-	2	1928	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	SLITRK3_ENST00000241274.3_Silent_p.I495I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	495					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGCAGGCTGGATTTCCCGGA	0.488										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(1483-1485)atC>atT		SLIT and NTRK-like family, member 3							70.0	75.0	73.0					3																	164907134		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164907134G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1485C>T	3.37:g.164907134G>A		HNSCC(40;0.11)	Somatic				SLITRK3_ENST00000241274.3_Silent_p.I495I	p.I495I			WXS	Illumina GAIIx	Phase_I	O94933	SLIK3_HUMAN			2	1928	-			495					Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.1485C>T	CCDS3197.1																																																																																				0.488	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		4	37	4	37	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62813885	62813885	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr4:62813885A>T	ENST00000514591.1	+	16	2821	c.2492A>T	c.(2491-2493)tAt>tTt	p.Y831F	LPHN3_ENST00000545650.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000512091.2_Missense_Mutation_p.Y831F|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y831F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	818	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATGACAGGTTATTGGTCAACA	0.403																																						ENST00000512091.2																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2491-2493)tAt>tTt		latrophilin 3							97.0	87.0	90.0					4																	62813885		1896	4116	6012	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813885A>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2492A>T	4.37:g.62813885A>T	ENSP00000422533:p.Tyr831Phe		Somatic				LPHN3_ENST00000509896.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y831F	p.Y831F			WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			16	3239	+						GPS.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2492A>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.34|15.34	2.805753|2.805753	0.50421|0.50421	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.68479	.|-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.98|5.98	4.8|4.8	0.61643|0.61643	.|GPS domain (3);	.|0.349316	.|0.31461	.|N	.|0.007604	T|T	0.51227|0.51227	0.1662|0.1662	N|N	0.20445|0.20445	0.575|0.575	0.40683|0.40683	D|D	0.982327|0.982327	.|B;B;B	.|0.15141	.|0.005;0.005;0.012	.|B;B;B	.|0.10450	.|0.005;0.005;0.004	T|T	0.45542|0.45542	-0.9254|-0.9254	5|10	.|0.40728	.|T	.|0.16	.|.	12.1974|12.1974	0.54305|0.54305	0.9336:0.0:0.0664:0.0|0.9336:0.0:0.0664:0.0	.|.	.|831;818;831	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	F|F	288|831;831;899;899;831;831;818;831;899;899;899;831;831;831;899;899;831	.|ENSP00000423388:Y831F;ENSP00000422533:Y831F;ENSP00000423787:Y899F;ENSP00000425033:Y899F;ENSP00000424120:Y831F;ENSP00000439831:Y831F;ENSP00000421476:Y899F;ENSP00000424030:Y899F;ENSP00000421372:Y899F;ENSP00000425201:Y831F;ENSP00000423434:Y831F;ENSP00000421627:Y831F;ENSP00000420931:Y899F;ENSP00000425884:Y899F;ENSP00000424258:Y831F	.|ENSP00000280009:Y831F	L|Y	+|+	3|2	2|0	LPHN3|LPHN3	62496480|62496480	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.971000|0.971000	0.66376|0.66376	5.907000|5.907000	0.69908|0.69908	1.093000|1.093000	0.41377|0.41377	0.529000|0.529000	0.55759|0.55759	TTA|TAT		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			3	38	3	38	---	---	---	---
BANK1	55024	broad.mit.edu	37	4	102981540	102981540	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr4:102981540T>G	ENST00000322953.4	+	12	2416	c.2142T>G	c.(2140-2142)atT>atG	p.I714M	BANK1_ENST00000508653.1_Missense_Mutation_p.I581M|BANK1_ENST00000504592.1_Missense_Mutation_p.I699M|BANK1_ENST00000428908.1_Missense_Mutation_p.I581M|BANK1_ENST00000444316.2_Missense_Mutation_p.I684M	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	714					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGGAAATGATTCAGCAGGTAA	0.418																																						ENST00000504592.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(2095-2097)atT>atG		B-cell scaffold protein with ankyrin repeats 1							78.0	82.0	80.0					4																	102981540		2203	4300	6503	SO:0001583	missense	55024				B cell activation			g.chr4:102981540T>G	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2142T>G	4.37:g.102981540T>G	ENSP00000320509:p.Ile714Met		Somatic				BANK1_ENST00000444316.2_Missense_Mutation_p.I684M|BANK1_ENST00000322953.4_Missense_Mutation_p.I714M|BANK1_ENST00000428908.1_Missense_Mutation_p.I581M|BANK1_ENST00000508653.1_Missense_Mutation_p.I581M	p.I699M			WXS	Illumina GAIIx	Phase_I	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	16	2515	+		Hepatocellular(203;0.217)	714					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.2097T>G	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968431	0.53614	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.20332	2.78;2.76;2.08;2.08;2.78	5.59	0.198	0.15168	.	0.501680	0.20246	N	0.096183	T	0.30198	0.0757	L	0.50333	1.59	0.25529	N	0.987299	D;D;D	0.76494	0.994;0.999;0.999	D;D;D	0.74023	0.975;0.982;0.982	T	0.10200	-1.0640	10	0.34782	T	0.22	.	4.5358	0.12028	0.0:0.2565:0.1586:0.5848	.	581;714;699	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	M	699;714;581;581;684	ENSP00000421443:I699M;ENSP00000320509:I714M;ENSP00000412748:I581M;ENSP00000422314:I581M;ENSP00000388817:I684M	ENSP00000320509:I714M	I	+	3	3	BANK1	103200563	0.690000	0.27699	0.711000	0.30485	0.975000	0.68041	-0.242000	0.08928	-0.154000	0.11118	0.459000	0.35465	ATT		0.418	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		13	47	13	47	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123249427	123249427	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr4:123249427T>G	ENST00000264501.4	+	66	11537	c.11164T>G	c.(11164-11166)Ttg>Gtg	p.L3722V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3722V			Q2LD37	K1109_HUMAN	KIAA1109	3722					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGATGACAGTTTGTCTTCTAC	0.438																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(11164-11166)Ttg>Gtg		KIAA1109							108.0	100.0	102.0					4																	123249427		1834	4087	5921	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123249427T>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11164T>G	4.37:g.123249427T>G	ENSP00000264501:p.Leu3722Val		Somatic				KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3722V	p.L3722V			WXS	Illumina GAIIx	Phase_I	Q2LD37	K1109_HUMAN			66	11537	+			3722					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.11164T>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109746	0.77096	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707	T;T;T	0.33654	2.44;2.44;1.4	5.57	1.26	0.21427	.	0.102602	0.43260	D	0.000582	T	0.17365	0.0417	N	0.08118	0	0.80722	D	1	B;B	0.25809	0.135;0.01	B;B	0.27076	0.076;0.015	T	0.06303	-1.0834	10	0.33940	T	0.23	.	8.6729	0.34161	0.0:0.2629:0.0:0.7371	.	3721;3722	Q2LD37-4;Q2LD37	.;K1109_HUMAN	V	3722;3722;426	ENSP00000264501:L3722V;ENSP00000373390:L3722V;ENSP00000410874:L426V	ENSP00000264501:L3722V	L	+	1	2	KIAA1109	123468877	1.000000	0.71417	0.967000	0.41034	0.993000	0.82548	2.529000	0.45632	-0.006000	0.14370	0.383000	0.25322	TTG		0.438	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	79	4	79	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140167805	140167805	+	Missense_Mutation	SNP	C	C	T	rs577194073		TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr5:140167805C>T	ENST00000504120.2	+	1	1930	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R644C|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTTGTCGCGCTACCGCCT	0.662													.|||	1	0.000199681	0.0	0.0	5008	,	,		16253	0.001		0.0	False		,,,				2504	0.0					ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1930-1932)Cgc>Tgc									64.0	69.0	67.0					5																	140167805		2203	4300	6503	SO:0001583	missense	56147							g.chr5:140167805C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1930C>T	5.37:g.140167805C>T	ENSP00000420840:p.Arg644Cys		Somatic				PCDHA1_ENST00000378133.3_Missense_Mutation_p.R644C|PCDHA1_ENST00000394633.3_Intron	p.R644C	NM_018900.2	NP_061723.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1930	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1930C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	8.460	0.855009	0.17106	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.53206	0.63;0.63	3.49	1.42	0.22433	Cadherin (4);Cadherin-like (1);	0.000000	0.34555	U	0.003869	T	0.68686	0.3028	M	0.92738	3.34	0.20873	N	0.999839	D;D	0.89917	1.0;0.999	D;D	0.65140	0.932;0.921	T	0.60042	-0.7340	10	0.87932	D	0	.	7.991	0.30239	0.3782:0.4883:0.1336:0.0	.	644;644	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	C	644	ENSP00000420840:R644C;ENSP00000367373:R644C	ENSP00000367373:R644C	R	+	1	0	PCDHA1	140147989	0.003000	0.15002	0.231000	0.23993	0.001000	0.01503	0.802000	0.27069	0.545000	0.28902	-0.283000	0.09986	CGC		0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		13	61	13	61	---	---	---	---
BYSL	705	broad.mit.edu	37	6	41889339	41889339	+	Silent	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr6:41889339G>A	ENST00000230340.4	+	1	414	c.39G>A	c.(37-39)caG>caA	p.Q13Q	MED20_ENST00000467535.1_5'Flank|MED20_ENST00000265350.4_5'Flank|MED20_ENST00000409060.1_5'Flank|MED20_ENST00000409312.1_5'Flank	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	13					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGGGGGTCAGGAAAAACATG	0.647											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230340.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8						c.(37-39)caG>caA		bystin-like							14.0	19.0	18.0					6																	41889339		2178	4276	6454	SO:0001819	synonymous_variant	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41889339G>A	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.39G>A	6.37:g.41889339G>A			Somatic	OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904		p.Q13Q	NM_004053.3	NP_004044.3	WXS	Illumina GAIIx	Phase_I	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		1	414	+	Colorectal(47;0.121)		13					Q6P5W4|Q86W44|Q96IP8	Silent	SNP	ENST00000230340.4	37	c.39G>A	CCDS34450.1																																																																																				0.647	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			7	24	7	24	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123152133	123152133	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr7:123152133C>A	ENST00000466202.1	-	2	838	c.262G>T	c.(262-264)Gtt>Ttt	p.V88F	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.V88F|IQUB_ENST00000324698.6_Missense_Mutation_p.V88F	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	88					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.V88F(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTATATGAAACTTGTCTTGGT	0.398																																						ENST00000466202.1																			1	Substitution - Missense(1)	p.V88F(1)	ovary(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(262-264)Gtt>Ttt		IQ motif and ubiquitin domain containing							238.0	202.0	214.0					7																	123152133		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123152133C>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.262G>T	7.37:g.123152133C>A	ENSP00000417769:p.Val88Phe		Somatic				IQUB_ENST00000434450.1_Missense_Mutation_p.V88F|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.V88F	p.V88F	NM_001282855.1	NP_001269784.1	WXS	Illumina GAIIx	Phase_I	Q8NA54	IQUB_HUMAN			2	838	-			88					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.262G>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742963	0.30865	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.48522	1.83;1.83;0.81	5.1	2.13	0.27403	.	11.468500	0.00481	N	0.000138	T	0.34600	0.0903	N	0.19112	0.55	0.09310	N	1	B;B;B	0.33379	0.41;0.32;0.214	B;B;B	0.35510	0.204;0.192;0.07	T	0.19877	-1.0292	10	0.30854	T	0.27	.	4.1337	0.10160	0.1796:0.6169:0.0:0.2034	.	88;88;88	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	F	88	ENSP00000417769:V88F;ENSP00000324882:V88F;ENSP00000388498:V88F	ENSP00000324882:V88F	V	-	1	0	IQUB	122939369	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.088000	0.11198	0.347000	0.23924	-0.355000	0.07637	GTT		0.398	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		11	147	11	147	---	---	---	---
CCDC82	79780	broad.mit.edu	37	11	96117466	96117466	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr11:96117466T>G	ENST00000278520.5	-	3	874	c.446A>C	c.(445-447)cAg>cCg	p.Q149P	CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_Missense_Mutation_p.Q149P|CCDC82_ENST00000542662.1_Missense_Mutation_p.Q149P			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	149			Q -> E (in dbSNP:rs17851661). {ECO:0000269|PubMed:15489334}.							endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATGTTTTTCCTGATCATCCTC	0.318																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(445-447)cAg>cCg		coiled-coil domain containing 82							241.0	223.0	229.0					11																	96117466		2201	4297	6498	SO:0001583	missense	79780						protein binding	g.chr11:96117466T>G	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.446A>C	11.37:g.96117466T>G	ENSP00000278520:p.Gln149Pro		Somatic				CCDC82_ENST00000542662.1_Missense_Mutation_p.Q149P|CCDC82_ENST00000423339.2_Missense_Mutation_p.Q149P	p.Q149P			WXS	Illumina GAIIx	Phase_I	Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	3	874	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	149		Q -> E (in dbSNP:rs17851661).			B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.446A>C	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	T	0.057	-1.232901	0.01505	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	2.85	-2.91	0.05631	.	.	.	.	.	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	B;B	0.20164	0.042;0.0	B;B	0.25759	0.063;0.002	T	0.30937	-0.9961	9	0.30078	T	0.28	2.8859	2.2867	0.04128	0.5734:0.101:0.1088:0.2167	.	149;149	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	P	149	ENSP00000278520:Q149P;ENSP00000444010:Q149P;ENSP00000397156:Q149P;ENSP00000442723:Q149P	ENSP00000278520:Q149P	Q	-	2	0	CCDC82	95757114	.	.	0.000000	0.03702	0.376000	0.30014	.	.	-0.736000	0.04831	0.102000	0.15555	CAG		0.318	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		14	118	14	118	---	---	---	---
CASC1	55259	broad.mit.edu	37	12	25274826	25274826	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr12:25274826T>C	ENST00000320267.9	-	10	1163	c.1082A>G	c.(1081-1083)aAt>aGt	p.N361S	CASC1_ENST00000395987.3_Missense_Mutation_p.N367S|CASC1_ENST00000545133.1_Missense_Mutation_p.N302S|CASC1_ENST00000354189.5_Missense_Mutation_p.N425S|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Missense_Mutation_p.N321S|CASC1_ENST00000537577.1_Missense_Mutation_p.N249S	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	361										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTCAGAAGAATTCTCTACCAG	0.338																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1273-1275)aAt>aGt		cancer susceptibility candidate 1							114.0	114.0	114.0					12																	25274826		2203	4300	6503	SO:0001583	missense	55259							g.chr12:25274826T>C	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1082A>G	12.37:g.25274826T>C	ENSP00000313141:p.Asn361Ser		Somatic				CASC1_ENST00000320267.9_Missense_Mutation_p.N361S|CASC1_ENST00000395990.2_Missense_Mutation_p.N321S|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.N367S|CASC1_ENST00000537577.1_Missense_Mutation_p.N249S|CASC1_ENST00000545133.1_Missense_Mutation_p.N302S	p.N425S	NM_001082972.1	NP_001076441.1	WXS	Illumina GAIIx	Phase_I	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		11	1309	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		361					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1274A>G	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845410	0.32606	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246	T;T;T;T;T	0.43294	0.95;1.56;1.56;0.98;0.98	4.34	0.212	0.15240	Casc1 domain (1);	0.505717	0.20335	N	0.094356	T	0.23370	0.0565	L	0.55103	1.725	0.23787	N	0.996849	B;B;P;B;B	0.37370	0.234;0.234;0.592;0.276;0.234	B;B;B;B;B	0.29267	0.099;0.061;0.099;0.1;0.061	T	0.16394	-1.0404	10	0.08599	T	0.76	-22.8918	3.0478	0.06159	0.3785:0.1077:0.0:0.5137	.	249;302;425;361;367	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	S	425;367;361;321;249;367;302;171	ENSP00000346126:N425S;ENSP00000379310:N367S;ENSP00000313141:N361S;ENSP00000379313:N321S;ENSP00000437373:N302S	ENSP00000313141:N361S	N	-	2	0	CASC1	25166093	0.853000	0.29707	0.716000	0.30569	0.723000	0.41478	1.446000	0.35090	0.260000	0.21731	0.383000	0.25322	AAT		0.338	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		24	134	24	134	---	---	---	---
AMER2	219287	broad.mit.edu	37	13	25743973	25743973	+	Silent	SNP	T	T	C			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr13:25743973T>C	ENST00000515384.1	-	1	2452	c.1785A>G	c.(1783-1785)ccA>ccG	p.P595P	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Silent_p.P476P|AMER2_ENST00000357816.2_Silent_p.P476P			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	595					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GTGTTCGCAGTGGACAGGTGA	0.572																																						ENST00000357816.2																			0											c.(1426-1428)ccA>ccG		APC membrane recruitment protein 2							174.0	147.0	156.0					13																	25743973		2203	4300	6503	SO:0001819	synonymous_variant	219287							g.chr13:25743973T>C	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1785A>G	13.37:g.25743973T>C			Somatic				AMER2_ENST00000381853.3_Silent_p.P476P|AMER2_ENST00000515384.1_Silent_p.P595P	p.P476P			WXS	Illumina GAIIx	Phase_I					3	1903	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	c.1428A>G	CCDS53859.1																																																																																				0.572	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		4	88	4	88	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89148373	89148373	+	Silent	SNP	T	T	C			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr14:89148373T>C	ENST00000380664.5	-	21	2984	c.2985A>G	c.(2983-2985)ggA>ggG	p.G995G	EML5_ENST00000554922.1_Silent_p.G995G|EML5_ENST00000352093.5_Silent_p.G957G			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	995						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTTCCATGTGTCCCTATAAAG	0.353																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2983-2985)ggA>ggG		echinoderm microtubule associated protein like 5							110.0	109.0	109.0					14																	89148373		1884	4102	5986	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89148373T>C	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2985A>G	14.37:g.89148373T>C			Somatic				EML5_ENST00000352093.5_Silent_p.G957G|EML5_ENST00000380664.5_Silent_p.G995G	p.G995G	NM_183387.2	NP_899243.1	WXS	Illumina GAIIx	Phase_I	Q05BV3	EMAL5_HUMAN			21	3233	-			995					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.2985A>G	CCDS45148.1																																																																																				0.353	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			9	72	9	72	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33954430	33954430	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr15:33954430G>A	ENST00000389232.4	+	35	4769	c.4699G>A	c.(4699-4701)Gcg>Acg	p.A1567T	RYR3_ENST00000415757.3_Missense_Mutation_p.A1567T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1567	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTCTACAGCGCGGTGTGCGC	0.607																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(4699-4701)Gcg>Acg		ryanodine receptor 3							52.0	51.0	52.0					15																	33954430		2077	4222	6299	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954430G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4699G>A	15.37:g.33954430G>A	ENSP00000373884:p.Ala1567Thr		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.A1567T	p.A1567T	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	4769	+		all_lung(180;7.18e-09)	1567			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4699G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444235	0.25987	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97232	-4.3;-4.3	5.1	5.1	0.69264	.	0.140237	0.47852	D	0.000214	D	0.96059	0.8716	M	0.80746	2.51	0.42006	D	0.990914	B;P	0.44578	0.372;0.838	B;B	0.39805	0.031;0.31	D	0.96084	0.9056	10	0.87932	D	0	.	11.5806	0.50889	0.0:0.0:0.7:0.3	.	1567;1567	Q15413-2;Q15413	.;RYR3_HUMAN	T	1567	ENSP00000373884:A1567T;ENSP00000399610:A1567T	ENSP00000354735:A1567T	A	+	1	0	RYR3	31741722	1.000000	0.71417	0.348000	0.25681	0.029000	0.11900	4.890000	0.63178	2.673000	0.90976	0.650000	0.86243	GCG		0.607	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	12	3	12	---	---	---	---
FTO	79068	broad.mit.edu	37	16	53913760	53913760	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr16:53913760C>G	ENST00000471389.1	+	6	1202	c.980C>G	c.(979-981)tCa>tGa	p.S327*	FTO_ENST00000394647.3_Nonsense_Mutation_p.S31*	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	327	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CAACAGTGCTCAACAGGAACC	0.413																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(979-981)tCa>tGa		fat mass and obesity associated							170.0	157.0	161.0					16																	53913760		2198	4300	6498	SO:0001587	stop_gained	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53913760C>G	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.980C>G	16.37:g.53913760C>G	ENSP00000418823:p.Ser327*		Somatic				FTO_ENST00000394647.3_Nonsense_Mutation_p.S31*	p.S327*	NM_001080432.2	NP_001073901.1	WXS	Illumina GAIIx	Phase_I	Q9C0B1	FTO_HUMAN			6	1202	+			327			Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Nonsense_Mutation	SNP	ENST00000471389.1	37	c.980C>G	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	C	40	8.235690	0.98719	.	.	ENSG00000140718	ENST00000471389;ENST00000394647	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.426	18.6788	0.91539	0.0:1.0:0.0:0.0	.	.	.	.	X	327;31	.	ENSP00000378142:S31X	S	+	2	0	FTO	52471261	0.998000	0.40836	0.965000	0.40720	0.979000	0.70002	5.025000	0.64097	2.761000	0.94854	0.650000	0.86243	TCA		0.413	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		3	79	3	79	---	---	---	---
SMURF2	64750	broad.mit.edu	37	17	62589625	62589625	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr17:62589625T>G	ENST00000262435.9	-	4	454	c.267A>C	c.(265-267)caA>caC	p.Q89H	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	89	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ATCCAGCACCTTGTTTCTTAT	0.398																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(265-267)caA>caC		SMAD specific E3 ubiquitin protein ligase 2							117.0	103.0	108.0					17																	62589625		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62589625T>G	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.267A>C	17.37:g.62589625T>G	ENSP00000262435:p.Gln89His		Somatic				SMURF2_ENST00000578200.1_Intron	p.Q89H	NM_022739.3	NP_073576.1	WXS	Illumina GAIIx	Phase_I	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		4	454	-	Breast(5;1.32e-14)		89			C2.		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.267A>C	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.601440	0.28534	.	.	ENSG00000108854	ENST00000262435	T	0.67345	-0.26	5.73	4.65	0.58169	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	L	0.41632	1.29	0.58432	D	0.999998	P	0.48230	0.907	P	0.56278	0.795	T	0.65508	-0.6151	10	0.46703	T	0.11	.	6.3304	0.21266	0.0:0.2931:0.0:0.7068	.	89	Q9HAU4	SMUF2_HUMAN	H	89	ENSP00000262435:Q89H	ENSP00000262435:Q89H	Q	-	3	2	SMURF2	60020087	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.668000	0.25127	0.993000	0.38866	0.533000	0.62120	CAA		0.398	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		14	75	14	75	---	---	---	---
ZNF823	55552	broad.mit.edu	37	19	11832823	11832823	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:11832823C>A	ENST00000341191.6	-	4	1679	c.1526G>T	c.(1525-1527)aGt>aTt	p.S509I	ZNF823_ENST00000545749.1_Missense_Mutation_p.S327I	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ACTGAAATGACTGAAGGCTTT	0.378										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(1525-1527)aGt>aTt		zinc finger protein 823							63.0	69.0	67.0					19																	11832823		2186	4292	6478	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11832823C>A	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1526G>T	19.37:g.11832823C>A	ENSP00000340683:p.Ser509Ile	HNSCC(68;0.2)	Somatic				ZNF823_ENST00000545749.1_Missense_Mutation_p.S327I	p.S509I	NM_001080493.2	NP_001073962.1	WXS	Illumina GAIIx	Phase_I	P16415	ZN823_HUMAN			4	1679	-			509					A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.1526G>T	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	N	10.94	1.492372	0.26774	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.05025	3.51;3.51;3.51	0.672	-1.06	0.10002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06690	0.0171	L	0.43152	1.355	0.09310	N	1	D	0.59357	0.985	P	0.49192	0.602	T	0.28933	-1.0028	9	0.25106	T	0.35	.	2.351	0.04283	0.0:0.4035:0.3331:0.2633	.	509	P16415	ZN823_HUMAN	I	327;509;465	ENSP00000440162:S327I;ENSP00000340683:S509I;ENSP00000410654:S465I	ENSP00000340683:S509I	S	-	2	0	ZNF823	11693823	0.000000	0.05858	0.000000	0.03702	0.618000	0.37518	-2.635000	0.00868	-0.267000	0.09325	0.305000	0.20034	AGT		0.378	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		9	76	9	76	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19115404	19115404	+	Silent	SNP	C	C	T			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:19115404C>T	ENST00000601879.1	-	7	2799	c.2502G>A	c.(2500-2502)gtG>gtA	p.V834V	SUGP2_ENST00000600377.1_Silent_p.V848V|SUGP2_ENST00000337018.6_Silent_p.V834V|SUGP2_ENST00000456085.2_Silent_p.V603V|SUGP2_ENST00000452918.2_Silent_p.V834V			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	834					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATAGTTCAAACACTTTCTTTC	0.458																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2500-2502)gtG>gtA		SURP and G patch domain containing 2							71.0	70.0	70.0					19																	19115404		2203	4300	6503	SO:0001819	synonymous_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19115404C>T	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2502G>A	19.37:g.19115404C>T			Somatic				SUGP2_ENST00000337018.6_Silent_p.V834V|SUGP2_ENST00000600377.1_Silent_p.V848V|SUGP2_ENST00000456085.2_Silent_p.V603V|SUGP2_ENST00000452918.2_Silent_p.V834V	p.V834V			WXS	Illumina GAIIx	Phase_I	Q8IX01	SUGP2_HUMAN			7	2799	-			834					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	c.2502G>A	CCDS12392.1																																																																																				0.458	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		24	58	24	58	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369968	56369968	+	Silent	SNP	T	T	A			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:56369968T>A	ENST00000301295.6	+	3	1631	c.1209T>A	c.(1207-1209)gcT>gcA	p.A403A	NLRP4_ENST00000346986.5_Silent_p.A403A|NLRP4_ENST00000587891.1_Silent_p.A328A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	403	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTCCCTGGCTGCAGAGGGTA	0.572																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1207-1209)gcT>gcA		NLR family, pyrin domain containing 4							78.0	79.0	79.0					19																	56369968		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369968T>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1209T>A	19.37:g.56369968T>A			Somatic				NLRP4_ENST00000587891.1_Silent_p.A328A|NLRP4_ENST00000346986.5_Silent_p.A403A	p.A403A	NM_134444.4	NP_604393.2	WXS	Illumina GAIIx	Phase_I	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1631	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	403			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1209T>A	CCDS12936.1																																																																																				0.572	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		5	63	5	63	---	---	---	---
LZTS3	9762	broad.mit.edu	37	20	3145297	3145297	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr20:3145297T>G	ENST00000329152.3	-	3	3222	c.1825A>C	c.(1825-1827)Aag>Cag	p.K609Q	LZTS3_ENST00000360342.3_Missense_Mutation_p.K563Q|LZTS3_ENST00000337576.5_Missense_Mutation_p.K563Q			O60299	LZTS3_HUMAN		609						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											ACCTTCTCCTTCTCCTCCAGC	0.711																																						ENST00000329152.3																			0											c.(1825-1827)Aag>Cag									40.0	34.0	36.0					20																	3145297		2202	4299	6501	SO:0001583	missense	9762							g.chr20:3145297T>G																												ENST00000329152.3:c.1825A>C	20.37:g.3145297T>G	ENSP00000332123:p.Lys609Gln		Somatic				LZTS3_ENST00000360342.3_Missense_Mutation_p.K563Q|LZTS3_ENST00000337576.5_Missense_Mutation_p.K563Q	p.K609Q			WXS	Illumina GAIIx	Phase_I					3	3222	-								A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.1825A>C	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613089	0.87258	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.61392	0.11;0.11;0.11	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.85130	0.978;0.997	T	0.76621	-0.2892	10	0.42905	T	0.14	-30.2174	14.4504	0.67382	0.0:0.0:0.0:1.0	.	563;609	O60299-2;O60299	.;PRIP1_HUMAN	Q	609;563;563	ENSP00000332123:K609Q;ENSP00000353496:K563Q;ENSP00000338166:K563Q	ENSP00000332123:K609Q	K	-	1	0	RP5-1187M17.10	3093297	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	2.003000	0.58678	0.454000	0.30748	AAG		0.711	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			10	14	10	14	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37485725	37485725	+	Silent	SNP	G	G	A	rs376170157		TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr22:37485725G>A	ENST00000346753.3	-	7	872	c.756C>T	c.(754-756)ccC>ccT	p.P252P	TMPRSS6_ENST00000442782.2_Silent_p.P252P|TMPRSS6_ENST00000406856.1_Silent_p.P243P|TMPRSS6_ENST00000406725.1_Silent_p.P243P|TMPRSS6_ENST00000381792.2_Silent_p.P243P	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	252	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGAGGTCCTTGGGGCCCTGCA	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15168	0.0		0.0	False		,,,				2504	0.0					ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(727-729)ccC>ccT		transmembrane protease, serine 6		G		0,4402		0,0,2201	22.0	23.0	23.0		756	2.5	0.6	22		23	1,8599		0,1,4299	no	coding-synonymous	TMPRSS6	NM_153609.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		252/812	37485725	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37485725G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.756C>T	22.37:g.37485725G>A			Somatic				TMPRSS6_ENST00000406725.1_Silent_p.P243P|TMPRSS6_ENST00000346753.3_Silent_p.P252P|TMPRSS6_ENST00000442782.2_Silent_p.P252P|TMPRSS6_ENST00000406856.1_Silent_p.P243P	p.P243P			WXS	Illumina GAIIx	Phase_I	Q8IU80	TMPS6_HUMAN			7	869	-			252			CUB 1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	c.729C>T	CCDS13941.1																																																																																				0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		3	10	3	10	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71719830	71719830	+	Frame_Shift_Del	DEL	A	A	-	rs139169825	byFrequency	TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr11:71719830delA	ENST00000393695.3	-	20	5451	c.5120delT	c.(5119-5121)ttafs	p.L1707fs	NUMA1_ENST00000358965.6_Frame_Shift_Del_p.L1693fs|NUMA1_ENST00000351960.6_Frame_Shift_Del_p.L571fs	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACGGCTCTTTAAAGCATCAGT	0.577			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(5119-5121)ttafs		nuclear mitotic apparatus protein 1							78.0	81.0	80.0					11																	71719830		2200	4293	6493	SO:0001589	frameshift_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71719830delA	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5120delT	11.37:g.71719830delA	ENSP00000377298:p.Leu1707fs		Somatic				NUMA1_ENST00000358965.6_Frame_Shift_Del_p.L1693fs|NUMA1_ENST00000351960.6_Frame_Shift_Del_p.L571fs	p.L1707fs	NM_006185.2	NP_006176.2	WXS	Illumina GAIIx	Phase_I	Q14980	NUMA1_HUMAN			20	5451	-			1707						Frame_Shift_Del	DEL	ENST00000393695.3	37	c.5120delT	CCDS31633.1																																																																																				0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			15	66	15	66	---	---	---	---
ICE2	79664	broad.mit.edu	37	15	60741602	60741602	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr15:60741602delT	ENST00000261520.4	-	10	1798	c.1564delA	c.(1564-1566)attfs	p.I522fs	NARG2_ENST00000439632.1_Frame_Shift_Del_p.I385fs	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GAAGTTTCAATTTCCTGAGAA	0.313																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1564-1566)attfs		NMDA receptor regulated 2							57.0	60.0	59.0					15																	60741602		2202	4298	6500	SO:0001589	frameshift_variant	79664					nucleus		g.chr15:60741602delT																												ENST00000261520.4:c.1564delA	15.37:g.60741602delT	ENSP00000261520:p.Ile522fs		Somatic				NARG2_ENST00000439632.1_Frame_Shift_Del_p.I385fs	p.I522fs	NM_024611.4	NP_078887.2	WXS	Illumina GAIIx	Phase_I	Q659A1	NARG2_HUMAN			10	1798	-			522						Frame_Shift_Del	DEL	ENST00000261520.4	37	c.1564delA	CCDS10176.1																																																																																				0.313	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			15	98	15	98	---	---	---	---
ZNF615	284370	broad.mit.edu	37	19	52496378	52496378	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A8IJ-01A-11D-A34U-08	TCGA-KK-A8IJ-11A-11D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78522869-eb0b-4497-b8bf-45437235c7c2	22a01dd4-194d-4931-91a3-cfd5406147df	g.chr19:52496378delA	ENST00000602063.1	-	6	2300	c.1951delT	c.(1951-1953)tccfs	p.S651fs	ZNF615_ENST00000598071.1_Frame_Shift_Del_p.S662fs|ZNF615_ENST00000594083.1_Frame_Shift_Del_p.S662fs|ZNF615_ENST00000376716.5_Frame_Shift_Del_p.S651fs|ZNF615_ENST00000391795.3_Frame_Shift_Del_p.S656fs			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CATGCAAAGGAAGTCTTTCCT	0.388																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(1951-1953)tccfs		zinc finger protein 615							163.0	163.0	163.0					19																	52496378		2203	4300	6503	SO:0001589	frameshift_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496378delA	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1951delT	19.37:g.52496378delA	ENSP00000473089:p.Ser651fs		Somatic				ZNF615_ENST00000391795.3_Frame_Shift_Del_p.S656fs|ZNF615_ENST00000594083.1_Frame_Shift_Del_p.S662fs|ZNF615_ENST00000376716.5_Frame_Shift_Del_p.S651fs|ZNF615_ENST00000598071.1_Frame_Shift_Del_p.S662fs	p.S651fs			WXS	Illumina GAIIx	Phase_I	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2300	-		all_neural(266;0.117)	651					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Frame_Shift_Del	DEL	ENST00000602063.1	37	c.1951delT	CCDS12846.1																																																																																				0.388	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		19	178	19	178	---	---	---	---
