#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
YJEFN3	374887	broad.mit.edu	37	19	19645880	19645880	+	Missense_Mutation	SNP	C	C	T	rs545322147	byFrequency	TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:19645880C>T	ENST00000514277.4	+	4	394	c.356C>T	c.(355-357)aCg>aTg	p.T119M	YJEFN3_ENST00000608404.1_Missense_Mutation_p.T118M|YJEFN3_ENST00000436027.5_Missense_Mutation_p.T69M|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.T118M	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	119	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						AAGCAGAGGACGGTGCTGGTC	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		16304	0.0		0.001	False		,,,				2504	0.001					ENST00000555938.1																			0											c.(352-354)aCg>aTg									90.0	108.0	102.0					19																	19645880		2115	4230	6345	SO:0001583	missense	0							g.chr19:19645880C>T		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.356C>T	19.37:g.19645880C>T	ENSP00000426964:p.Thr119Met					YJEFN3_ENST00000436027.4_Missense_Mutation_p.T69M|YJEFN3_ENST00000514277.3_Missense_Mutation_p.T119M	p.T118M							5	365	+								A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	c.353C>T	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915845	0.73098	.	.	ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000258674	ENST00000553705;ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139;ENST00000555938	T;T;T	0.45276	0.9;0.9;0.9	4.53	3.49	0.39957	YjeF-related protein, N-terminal (5);	0.052888	0.85682	N	0.000000	T	0.52158	0.1717	M	0.72894	2.215	0.49299	D	0.999774	D;B;D	0.58620	0.983;0.308;0.98	P;B;P	0.53809	0.735;0.037;0.488	T	0.54866	-0.8229	10	0.52906	T	0.07	-24.1496	10.701	0.45926	0.0:0.9037:0.0:0.0963	.	118;69;119	E7ENQ6;A6XGL0-2;A6XGL0	.;.;YJEN3_HUMAN	M	118;119;69;119;69;118	ENSP00000398520:T69M;ENSP00000426964:T119M;ENSP00000452549:T118M	ENSP00000389732:T118M	T	+	2	0	YJEFN3;CTC-260F20.3	19506880	1.000000	0.71417	0.914000	0.36105	0.845000	0.48019	5.390000	0.66261	1.063000	0.40649	0.650000	0.86243	ACG		0.642	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		73	152	0	0	0	0.139131	0	73	152				
CHAMP1	283489	broad.mit.edu	37	13	115090966	115090966	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr13:115090966T>C	ENST00000361283.1	+	3	1958	c.1649T>C	c.(1648-1650)cTt>cCt	p.L550P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	550	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AAACGTGCCCTTTTTCCAGAG	0.517																																						ENST00000361283.1																			0											c.(1648-1650)cTt>cCt		chromosome alignment maintaining phosphoprotein 1							211.0	240.0	230.0					13																	115090966		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090966T>C	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1649T>C	13.37:g.115090966T>C	ENSP00000354730:p.Leu550Pro						p.L550P	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1958	+			550			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1649T>C	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020892	0.54576	.	.	ENSG00000198824	ENST00000361283	T	0.01902	4.57	5.59	5.59	0.84812	.	0.000000	0.51477	D	0.000081	T	0.07188	0.0182	M	0.65498	2.005	0.58432	D	0.999996	P	0.51537	0.946	P	0.51777	0.679	T	0.19257	-1.0311	9	.	.	.	-17.4144	14.3423	0.66636	0.0:0.0:0.0:1.0	.	550	Q96JM3	ZN828_HUMAN	P	550	ENSP00000354730:L550P	.	L	+	2	0	ZNF828	114109068	0.995000	0.38212	0.981000	0.43875	0.990000	0.78478	3.159000	0.50731	2.126000	0.65437	0.528000	0.53228	CTT		0.517	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		5	328	0	0	0	0.021553	0	5	328				
C14orf159	80017	broad.mit.edu	37	14	91655506	91655506	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr14:91655506T>G	ENST00000523771.1	+	9	1775	c.1172T>G	c.(1171-1173)gTt>gGt	p.V391G	C14orf159_ENST00000523816.1_Missense_Mutation_p.V391G|C14orf159_ENST00000412671.2_Missense_Mutation_p.V396G|C14orf159_ENST00000518868.1_Missense_Mutation_p.V396G|C14orf159_ENST00000522322.1_Missense_Mutation_p.V391G|C14orf159_ENST00000256324.10_Missense_Mutation_p.V396G|C14orf159_ENST00000525393.2_Missense_Mutation_p.V267G|C14orf159_ENST00000428926.2_Missense_Mutation_p.V391G|C14orf159_ENST00000521077.2_Missense_Mutation_p.V396G|C14orf159_ENST00000520328.1_Missense_Mutation_p.V379G			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	391						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GAAGATGCTGTTGAGCAAGGT	0.532																																						ENST00000518868.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1186-1188)gTt>gGt		chromosome 14 open reading frame 159							96.0	78.0	84.0					14																	91655506		2203	4300	6503	SO:0001583	missense	80017					mitochondrion		g.chr14:91655506T>G	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1172T>G	14.37:g.91655506T>G	ENSP00000429655:p.Val391Gly					C14orf159_ENST00000525393.2_Missense_Mutation_p.V267G|C14orf159_ENST00000256324.10_Missense_Mutation_p.V396G|C14orf159_ENST00000521077.2_Missense_Mutation_p.V396G|C14orf159_ENST00000520328.1_Missense_Mutation_p.V379G|C14orf159_ENST00000523771.1_Missense_Mutation_p.V391G|C14orf159_ENST00000412671.2_Missense_Mutation_p.V396G|C14orf159_ENST00000523816.1_Missense_Mutation_p.V391G|C14orf159_ENST00000428926.2_Missense_Mutation_p.V391G|C14orf159_ENST00000522322.1_Missense_Mutation_p.V391G	p.V396G			Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	12	1877	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	391					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	c.1187T>G	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913778	0.33815	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45	4.82	3.67	0.42095	.	0.642001	0.15202	N	0.274969	T	0.36496	0.0969	M	0.69248	2.105	0.23346	N	0.997864	D;D;D;P;D;D	0.63880	0.984;0.993;0.991;0.95;0.98;0.98	P;D;P;P;P;P	0.65573	0.81;0.936;0.906;0.625;0.711;0.711	T	0.10683	-1.0619	10	0.87932	D	0	.	10.3142	0.43727	0.0:0.0787:0.0:0.9213	.	391;267;396;379;396;396	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.;.	G	379;396;396;396;391;396;267;391;391;391;396	ENSP00000429453:V379G;ENSP00000256324:V396G;ENSP00000430137:V396G;ENSP00000428263:V396G;ENSP00000428974:V391G;ENSP00000428652:V396G;ENSP00000435459:V267G;ENSP00000404343:V391G;ENSP00000427953:V391G;ENSP00000429655:V391G;ENSP00000404196:V396G	ENSP00000256324:V396G	V	+	2	0	C14orf159	90725259	0.988000	0.35896	0.001000	0.08648	0.248000	0.25809	4.627000	0.61276	0.692000	0.31613	0.533000	0.62120	GTT		0.532	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		19	87	0	0	0	0.108266	0	19	87				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						ENST00000300619.7																			0											c.(913-915)cAt>cGt		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	p.H305R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1119	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		5	124	0	0	0	0.038147	0	5	124				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	229	0	0	0	0.021553	0	6	229				
USP37	57695	broad.mit.edu	37	2	219341590	219341590	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr2:219341590G>T	ENST00000258399.3	-	19	2428	c.2016C>A	c.(2014-2016)aaC>aaA	p.N672K	USP37_ENST00000415516.1_Missense_Mutation_p.N578K|USP37_ENST00000454775.1_Missense_Mutation_p.N672K|USP37_ENST00000475553.1_5'Flank|USP37_ENST00000418019.1_Missense_Mutation_p.N672K	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	672	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GCTGCTGTTCGTTGCCTAACA	0.393																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(2014-2016)aaC>aaA		ubiquitin specific peptidase 37							104.0	100.0	101.0					2																	219341590		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219341590G>T	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2016C>A	2.37:g.219341590G>T	ENSP00000258399:p.Asn672Lys					USP37_ENST00000418019.1_Missense_Mutation_p.N672K|USP37_ENST00000415516.1_Missense_Mutation_p.N578K|USP37_ENST00000454775.1_Missense_Mutation_p.N672K	p.N672K	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	19	2428	-		Renal(207;0.0915)	672					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.2016C>A	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	0.936	-0.711049	0.03230	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.38240	1.17;1.17;1.15;1.17	5.44	-0.171	0.13331	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.708344	0.14796	N	0.297929	T	0.10337	0.0253	N	0.03608	-0.345	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26224	-1.0109	10	0.07813	T	0.8	-0.9689	0.5464	0.00655	0.4058:0.1343:0.2467:0.2132	.	578;672	Q86T82-2;Q86T82	.;UBP37_HUMAN	K	672;672;578;672	ENSP00000258399:N672K;ENSP00000393662:N672K;ENSP00000400902:N578K;ENSP00000396585:N672K	ENSP00000258399:N672K	N	-	3	2	USP37	219049834	0.002000	0.14202	0.226000	0.23910	0.532000	0.34746	-0.187000	0.09656	0.132000	0.18615	-0.290000	0.09829	AAC		0.393	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		20	52	1	0	7.88262e-20	0.083992	9.79356e-20	20	52				
RPSA	3921	broad.mit.edu	37	3	39450137	39450137	+	Silent	SNP	T	T	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr3:39450137T>G	ENST00000301821.6	+	3	283	c.174T>G	c.(172-174)ctT>ctG	p.L58L	RPSA_ENST00000478027.1_3'UTR|SNORA62_ENST00000365493.1_RNA|RPSA_ENST00000443003.1_Silent_p.L58L|SNORA6_ENST00000384033.1_RNA	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA											endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		GGGAGAAGCTTCTGCTGGCAG	0.458																																						ENST00000301821.6																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(172-174)ctT>ctG		ribosomal protein SA							71.0	72.0	72.0					3																	39450137		2203	4300	6503	SO:0001819	synonymous_variant	3921				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	g.chr3:39450137T>G	S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028			6502	protein-coding gene	gene with protein product		150370	"""laminin receptor 1 (67kD, ribosomal protein SA)"""	LAMR1		1534510, 8760291	Standard	NM_001012321		Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.174T>G	3.37:g.39450137T>G						RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Silent_p.L58L	p.L58L	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	3	283	+			58			Interaction with PPP1R16B.			Silent	SNP	ENST00000301821.6	37	c.174T>G	CCDS2686.1																																																																																				0.458	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	NM_002295		16	46	0	0	0	0.146539	0	16	46				
CCDC15	80071	broad.mit.edu	37	11	124857585	124857585	+	Missense_Mutation	SNP	C	C	A	rs112861775	byFrequency	TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr11:124857585C>A	ENST00000344762.5	+	8	1722	c.1463C>A	c.(1462-1464)cCc>cAc	p.P488H	CCDC15_ENST00000529051.1_Missense_Mutation_p.P488H	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	488						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCCCAAAGACCAA	0.403																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1462-1464)cCc>cAc		coiled-coil domain containing 15							139.0	131.0	133.0					11																	124857585		1815	4070	5885	SO:0001583	missense	80071					centrosome		g.chr11:124857585C>A	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1463C>A	11.37:g.124857585C>A	ENSP00000341684:p.Pro488His					CCDC15_ENST00000344762.5_Missense_Mutation_p.P488H	p.P488H			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1722	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	488					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1463C>A	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.620062	0.28801	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.32515	1.45;1.46	2.6	-0.521	0.11931	.	0.245643	0.21458	N	0.074211	T	0.30759	0.0775	L	0.37850	1.14	0.09310	N	1	D	0.61697	0.99	P	0.55824	0.785	T	0.12451	-1.0547	10	0.54805	T	0.06	6.3288	6.1694	0.20408	0.0:0.4625:0.0:0.5375	.	488	Q0P6D6	CCD15_HUMAN	H	488	ENSP00000435403:P488H;ENSP00000341684:P488H	ENSP00000341684:P488H	P	+	2	0	CCDC15	124362795	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	0.006000	0.13152	-0.080000	0.12685	-0.640000	0.03970	CCC		0.403	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		5	141	1	0	0.014758	0.014758	0.0155148	5	141				
SPRR3	6707	broad.mit.edu	37	1	152975781	152975781	+	Silent	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr1:152975781G>A	ENST00000295367.4	+	2	327	c.285G>A	c.(283-285)gaG>gaA	p.E95E	SPRR3_ENST00000542696.1_Intron|SPRR3_ENST00000331860.3_Silent_p.E95E	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	95	14 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTCCCTGAGCCAGGTTGTA	0.592																																						ENST00000331860.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(283-285)gaG>gaA		small proline-rich protein 3							77.0	64.0	69.0					1																	152975781		2203	4300	6503	SO:0001819	synonymous_variant	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975781G>A	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.285G>A	1.37:g.152975781G>A						SPRR3_ENST00000295367.4_Silent_p.E95E|SPRR3_ENST00000542696.1_Intron	p.E95E	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	435	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		95			14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Silent	SNP	ENST00000295367.4	37	c.285G>A	CCDS1033.1																																																																																				0.592	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		18	38	0	0	0	0.062417	0	18	38				
MAN2A2	4122	broad.mit.edu	37	15	91450694	91450694	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr15:91450694C>T	ENST00000559717.1	+	8	1624	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	MAN2A2_ENST00000431652.2_5'UTR|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R389W			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	389					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGTGCCACCCCGGGCCATCAC	0.607																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1165-1167)Cgg>Tgg		mannosidase, alpha, class 2A, member 2							53.0	53.0	53.0					15																	91450694		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91450694C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1165C>T	15.37:g.91450694C>T	ENSP00000452948:p.Arg389Trp					MAN2A2_ENST00000559717.1_Missense_Mutation_p.R389W|MAN2A2_ENST00000431652.2_5'UTR	p.R389W	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		7	1183	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		389					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.1165C>T	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130339	0.77549	.	.	ENSG00000196547	ENST00000360468	T	0.23754	1.89	5.67	5.67	0.87782	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.050971	0.85682	D	0.000000	T	0.43831	0.1265	L	0.52759	1.655	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.70016	0.967;0.913;0.948	T	0.23440	-1.0188	10	0.66056	D	0.02	-41.7526	13.0738	0.59075	0.2757:0.7243:0.0:0.0	.	59;389;389	B4DIK4;P49641-1;P49641	.;.;MA2A2_HUMAN	W	389	ENSP00000353655:R389W	ENSP00000353655:R389W	R	+	1	2	MAN2A2	89251698	0.816000	0.29132	0.997000	0.53966	0.968000	0.65278	1.566000	0.36396	2.696000	0.92011	0.456000	0.33151	CGG		0.607	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		11	50	0	0	0	0.105934	0	11	50				
TLR1	7096	broad.mit.edu	37	4	38798749	38798749	+	Silent	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:38798749C>T	ENST00000502213.2	-	3	1933	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	TLR1_ENST00000308979.2_Silent_p.K568K|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	568	LRRCT.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGTGAAAGTCCTTTAGTAGGG	0.448																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(1702-1704)aaG>aaA		toll-like receptor 1							127.0	130.0	129.0					4																	38798749		2203	4300	6503	SO:0001819	synonymous_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798749C>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1704G>A	4.37:g.38798749C>T						TLR1_ENST00000502213.2_Silent_p.K568K	p.K568K	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	1977	-			568			LRRCT.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	c.1704G>A	CCDS33973.1																																																																																				0.448	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			32	111	0	0	0	0.163468	0	32	111				
TTN	7273	broad.mit.edu	37	2	179463271	179463271	+	Missense_Mutation	SNP	C	C	T	rs181957743		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr2:179463271C>T	ENST00000591111.1	-	242	52374	c.52150G>A	c.(52150-52152)Gtt>Att	p.V17384I	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10152I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10085I|TTN_ENST00000460472.2_Missense_Mutation_p.V9960I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V19025I|TTN_ENST00000342992.6_Missense_Mutation_p.V16457I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17384	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATATTCAACGATGTATCCA	0.378													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17228	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(57073-57075)Gtt>Att		titin							93.0	89.0	90.0					2																	179463271		1825	4088	5913	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463271C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52150G>A	2.37:g.179463271C>T	ENSP00000465570:p.Val17384Ile					TTN_ENST00000591111.1_Missense_Mutation_p.V17384I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9960I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10085I|TTN_ENST00000342992.6_Missense_Mutation_p.V16457I|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10152I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA	p.V19025I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		292	57297	-			17384					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.57073G>A		2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	13.82	2.351240	0.41700	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.91	4.13	0.48395	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41994	0.1183	N	0.13235	0.315	0.44668	D	0.997655	B;B;B;B	0.22800	0.075;0.075;0.075;0.075	B;B;B;B	0.23852	0.049;0.049;0.049;0.049	T	0.33007	-0.9885	9	0.87932	D	0	.	12.5959	0.56470	0.0:0.8663:0.0:0.1337	.	9960;10085;10152;17384	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	16457;9960;10152;10085;9958	ENSP00000343764:V16457I;ENSP00000434586:V9960I;ENSP00000340554:V10152I;ENSP00000352154:V10085I	ENSP00000340554:V10152I	V	-	1	0	TTN	179171516	1.000000	0.71417	0.876000	0.34364	0.989000	0.77384	6.026000	0.70873	0.847000	0.35167	-0.142000	0.14014	GTT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	23	0	0	0	0.043863	0	17	23				
CD276	80381	broad.mit.edu	37	15	73996665	73996665	+	Missense_Mutation	SNP	C	C	A	rs369412356		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr15:73996665C>A	ENST00000318443.5	+	6	1523	c.1221C>A	c.(1219-1221)aaC>aaA	p.N407K	CD276_ENST00000564751.1_Missense_Mutation_p.N189K|CD276_ENST00000561213.1_Missense_Mutation_p.N407K|CD276_ENST00000537340.2_Missense_Mutation_p.N261K|CD276_ENST00000318424.5_Missense_Mutation_p.N189K	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	407	Ig-like C2-type 2.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TGACTGGCAACGTGACCACGT	0.647											OREG0023265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318443.5																			0				endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						c.(1219-1221)aaC>aaA		CD276 molecule							90.0	74.0	79.0					15																	73996665		2198	4294	6492	SO:0001583	missense	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:73996665C>A	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.1221C>A	15.37:g.73996665C>A	ENSP00000320084:p.Asn407Lys		OREG0023265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149	CD276_ENST00000561213.1_Missense_Mutation_p.N407K|CD276_ENST00000318424.5_Missense_Mutation_p.N189K|CD276_ENST00000564751.1_Missense_Mutation_p.N189K|CD276_ENST00000537340.2_Missense_Mutation_p.N261K	p.N407K	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN			6	1523	+			407			Ig-like C2-type 2.		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	c.1221C>A	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379065	0.61735	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823;ENST00000537340	T;T;T	0.75050	-0.9;-0.9;-0.9	4.32	3.38	0.38709	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	L	0.33093	0.98	0.51767	D	0.999932	D;D;D;D	0.89917	1.0;1.0;0.997;0.999	D;D;D;D	0.97110	1.0;0.997;0.995;0.998	T	0.67960	-0.5535	10	0.15952	T	0.53	-18.3993	7.4238	0.27088	0.0:0.7859:0.0:0.2141	.	353;189;407;407	B4DK26;Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.;.;CD276_HUMAN;.	K	189;407;407;261	ENSP00000320058:N189K;ENSP00000320084:N407K;ENSP00000441087:N261K	ENSP00000320058:N189K	N	+	3	2	CD276	71783718	0.982000	0.34865	1.000000	0.80357	0.937000	0.57800	0.205000	0.17356	0.778000	0.33520	0.462000	0.41574	AAC		0.647	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240		23	70	1	0	8.88839e-20	0.153744	1.07184e-19	23	70				
VPS16	64601	broad.mit.edu	37	20	2842496	2842496	+	Silent	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr20:2842496G>A	ENST00000380445.3	+	10	1017	c.945G>A	c.(943-945)ggG>ggA	p.G315G	PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	315					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGCTCGATGGGGTCCGCATCT	0.592																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(943-945)ggG>ggA		vacuolar protein sorting 16 homolog (S. cerevisiae)							82.0	72.0	76.0					20																	2842496		2203	4300	6503	SO:0001819	synonymous_variant	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2842496G>A	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.945G>A	20.37:g.2842496G>A						VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR	p.G315G	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			10	1017	+			315					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	ENST00000380445.3	37	c.945G>A	CCDS13036.1																																																																																				0.592	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		7	24	0	0	0	0.058154	0	7	24				
KIFC2	90990	broad.mit.edu	37	8	145697577	145697577	+	Silent	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr8:145697577G>A	ENST00000301332.2	+	14	1919	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E	FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000301331.5_Silent_p.E262E|KIFC2_ENST00000531423.1_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	514	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGTTCCGGGAGATGGGGGCCG	0.652																																						ENST00000301332.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19						c.(1540-1542)gaG>gaA		kinesin family member C2							37.0	43.0	41.0					8																	145697577		2202	4300	6502	SO:0001819	synonymous_variant	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145697577G>A	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1542G>A	8.37:g.145697577G>A						KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Silent_p.E262E	p.E514E	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		14	1919	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		514			Kinesin-motor.		E9PHB2|Q96NN6	Silent	SNP	ENST00000301332.2	37	c.1542G>A	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	G	9.416	1.081772	0.20309	.	.	ENSG00000167702	ENST00000528415	.	.	.	5.07	1.27	0.21489	.	.	.	.	.	T	0.45776	0.1359	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	-26.8143	3.6966	0.08367	0.345:0.0:0.4918:0.1632	.	.	.	.	N	335	.	.	D	+	1	0	KIFC2	145668385	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.537000	0.45702	0.049000	0.15920	0.591000	0.81541	GAT		0.652	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		3	74	0	0	0	0.150653	0	3	74				
MN1	4330	broad.mit.edu	37	22	28194930	28194930	+	Silent	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr22:28194930C>T	ENST00000302326.4	-	1	2556	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	534	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q550_R551insQ(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgctgttgctgct	0.647			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		1	Insertion - In frame(1)	p.Q550_R551insQ(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1600-1602)caG>caA		meningioma (disrupted in balanced translocation) 1							4.0	5.0	5.0					22																	28194930		1760	3656	5416	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194930C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1602G>A	22.37:g.28194930C>T							p.Q534Q	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2556	-			534			Poly-Gln.		A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.1602G>A	CCDS42998.1																																																																																				0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		3	6	0	0	0	0.150653	0	3	6				
EXOC2	55770	broad.mit.edu	37	6	564561	564561	+	Missense_Mutation	SNP	C	C	T	rs138384447		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr6:564561C>T	ENST00000230449.4	-	15	1786	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	EXOC2_ENST00000448181.3_Missense_Mutation_p.A146T	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	551					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCTGGATGGCGTGAGCGAGC	0.517																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(1651-1653)Gcc>Acc		exocyst complex component 2		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	82.0	82.0	82.0		1651	5.4	0.7	6	dbSNP_134	82	0,8600		0,0,4300	no	missense	EXOC2	NM_018303.4	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	551/925	564561	1,13005	2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:564561C>T	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1651G>A	6.37:g.564561C>T	ENSP00000230449:p.Ala551Thr					EXOC2_ENST00000448181.3_Missense_Mutation_p.A146T	p.A551T	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	15	1786	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	551					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.1651G>A	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684460	0.29872	2.27E-4	0.0	ENSG00000112685	ENST00000230449;ENST00000448181	T	0.46819	0.86	5.43	5.43	0.79202	.	0.170525	0.52532	D	0.000065	T	0.16128	0.0388	N	0.08118	0	0.28231	N	0.926125	B	0.09022	0.002	B	0.06405	0.002	T	0.05666	-1.0871	10	0.29301	T	0.29	-16.1058	19.2388	0.93873	0.0:1.0:0.0:0.0	.	551	Q96KP1	EXOC2_HUMAN	T	551;146	ENSP00000230449:A551T	ENSP00000230449:A551T	A	-	1	0	EXOC2	509561	0.995000	0.38212	0.737000	0.30932	0.002000	0.02628	2.882000	0.48546	2.549000	0.85964	0.591000	0.81541	GCC		0.517	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		26	93	0	0	0	0.183431	0	26	93				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000536727.1_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		3	46	1	0	0.00024832	0.150653	0.000267924	3	46				
IL3RA	3563	broad.mit.edu	37	X	1501315	1501315	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chrX:1501315A>G	ENST00000331035.4	+	12	1443	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G	IL3RA_ENST00000381469.2_Missense_Mutation_p.E287G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	365					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCCGGCCTGGAGGAGTGTCTG	0.637																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(1093-1095)gAg>gGg		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						186.0	197.0	193.0					X																	1501315		2203	4296	6499	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1501315A>G	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.1094A>G	X.37:g.1501315A>G	ENSP00000327890:p.Glu365Gly					IL3RA_ENST00000381469.2_Missense_Mutation_p.E287G	p.E365G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			12	1443	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	365					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.1094A>G	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	11.64	1.699891	0.30142	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;T	0.50813	0.88;0.73	1.7	1.7	0.24286	.	0.450190	0.17438	U	0.174203	T	0.53498	0.1800	L	0.43152	1.355	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.994	T	0.30707	-0.9969	10	0.52906	T	0.07	.	5.2323	0.15428	1.0:0.0:0.0:0.0	.	286;365	P26951-2;P26951	.;IL3RA_HUMAN	G	365;287	ENSP00000327890:E365G;ENSP00000370878:E287G	ENSP00000327890:E365G	E	+	2	0	IL3RA	1461315	0.017000	0.18338	0.043000	0.18650	0.500000	0.33767	1.491000	0.35583	0.748000	0.32831	0.084000	0.15446	GAG		0.637	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			32	161	0	0	0	0.074837	0	32	161				
ABL1	25	broad.mit.edu	37	9	133753877	133753877	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr9:133753877A>G	ENST00000318560.5	+	8	1727	c.1346A>G	c.(1345-1347)tAt>tGt	p.Y449C		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	449	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TCCCAGGTGTATGAGCTGCTA	0.507			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1345-1347)tAt>tGt		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						174.0	170.0	171.0					9																	133753877		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133753877A>G	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1346A>G	9.37:g.133753877A>G	ENSP00000323315:p.Tyr449Cys						p.Y449C	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	8	1727	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	449			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1346A>G	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596272	0.86953	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.63096	-0.02;-0.02	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.128125	0.53938	D	0.000041	T	0.70579	0.3240	L	0.37466	1.105	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.971;0.983	T	0.74134	-0.3763	10	0.87932	D	0	.	14.4656	0.67482	1.0:0.0:0.0:0.0	.	449;486	P00519;Q59FK4	ABL1_HUMAN;.	C	264;468;449	ENSP00000361423:Y468C;ENSP00000323315:Y449C	ENSP00000323315:Y449C	Y	+	2	0	ABL1	132743698	1.000000	0.71417	0.991000	0.47740	0.946000	0.59487	9.287000	0.95975	2.073000	0.62155	0.533000	0.62120	TAT		0.507	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		62	178	0	0	0	0.139131	0	62	178				
DCHS2	54798	broad.mit.edu	37	4	155158120	155158120	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:155158120C>A	ENST00000357232.4	-	25	6318	c.6319G>T	c.(6319-6321)Gct>Tct	p.A2107S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2107	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAACCAGAGCATCCTCACTT	0.398																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(6319-6321)Gct>Tct		dachsous cadherin-related 2							157.0	152.0	154.0					4																	155158120		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155158120C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6319G>T	4.37:g.155158120C>A	ENSP00000349768:p.Ala2107Ser						p.A2107S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6318	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2107			Cadherin 19.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.6319G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821832	0.32237	.	.	ENSG00000197410	ENST00000357232	T	0.54479	0.57	5.82	-6.9	0.01655	Cadherin (3);Cadherin-like (1);	0.824461	0.10855	N	0.626750	T	0.50377	0.1612	L	0.51422	1.61	0.36047	D	0.840488	P	0.48230	0.907	P	0.51297	0.665	T	0.65907	-0.6054	10	0.56958	D	0.05	.	9.9551	0.41661	0.0:0.3538:0.0923:0.5539	.	2107	Q6V1P9	PCD23_HUMAN	S	2107	ENSP00000349768:A2107S	ENSP00000349768:A2107S	A	-	1	0	DCHS2	155377570	0.261000	0.24063	0.000000	0.03702	0.107000	0.19398	-0.378000	0.07446	-2.269000	0.00684	-0.484000	0.04775	GCT		0.398	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		5	207	1	0	2.7689e-08	0.029380	3.15346e-08	5	207				
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G	rs200594600		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:40580552T>G	ENST00000595687.2	-	6	2006	c.1797A>C	c.(1795-1797)caA>caC	p.Q599H	ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000450241.2_Missense_Mutation_p.Q565H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	599					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1693-1695)caA>caC		zinc finger protein 780A							144.0	142.0	143.0					19																	40580552		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580552T>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1797A>C	19.37:g.40580552T>G	ENSP00000472189:p.Gln599His					ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H	p.Q565H			O75290	Z780A_HUMAN			6	2006	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		599					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1695A>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	9.527	1.109847	0.20714	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.27402	1.67;1.67	1.93	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19208	0.0461	N	0.02674	-0.535	0.09310	N	1	B;D	0.69078	0.387;0.997	B;D	0.65684	0.312;0.937	T	0.17715	-1.0360	9	0.08599	T	0.76	.	6.7369	0.23415	0.0:0.0:0.4738:0.5262	.	600;599	E9PB48;O75290	.;Z780A_HUMAN	H	599;600;599	ENSP00000400997:Q600H;ENSP00000341507:Q599H	ENSP00000341507:Q599H	Q	-	3	2	ZNF780A	45272392	0.000000	0.05858	0.004000	0.12327	0.653000	0.38743	-2.502000	0.00965	-0.004000	0.14419	0.260000	0.18958	CAA		0.403	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		4	144	0	0	0	0.014758	0	4	144				
AHNAK2	113146	broad.mit.edu	37	14	105408253	105408253	+	Missense_Mutation	SNP	C	C	T	rs112306443		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr14:105408253C>T	ENST00000333244.5	-	7	13654	c.13535G>A	c.(13534-13536)cGc>cAc	p.R4512H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4512						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCTGAATGCGGAGGTCAGT	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(13534-13536)cGc>cAc		AHNAK nucleoprotein 2		C	HIS/ARG	5,3983		0,5,1989	118.0	126.0	123.0		13535	1.7	0.0	14	dbSNP_132	123	0,8336		0,0,4168	no	missense	AHNAK2	NM_138420.2	29	0,5,6157	TT,TC,CC		0.0,0.1254,0.0406	probably-damaging	4512/5796	105408253	5,12319	1994	4168	6162	SO:0001583	missense	113146					nucleus		g.chr14:105408253C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13535G>A	14.37:g.105408253C>T	ENSP00000353114:p.Arg4512His					AHNAK2_ENST00000557457.1_Intron	p.R4512H	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13654	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4512					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13535G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303778	0.40795	0.001254	0.0	ENSG00000185567	ENST00000333244	T	0.00730	5.77	3.6	1.67	0.24075	.	3.293480	0.02260	U	0.067482	T	0.01320	0.0043	N	0.12182	0.205	0.09310	N	1	D	0.71674	0.998	P	0.61201	0.885	T	0.46843	-0.9162	10	0.46703	T	0.11	-14.362	2.6663	0.05053	0.0:0.4447:0.2818:0.2736	.	4512	Q8IVF2	AHNK2_HUMAN	H	4512	ENSP00000353114:R4512H	ENSP00000353114:R4512H	R	-	2	0	AHNAK2	104479298	0.000000	0.05858	0.033000	0.17914	0.107000	0.19398	-0.364000	0.07583	0.466000	0.27193	0.306000	0.20318	CGC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		47	106	0	0	0	0.139131	0	47	106				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	26	0	0	0	0.115264	0	3	26				
FOXP1	27086	broad.mit.edu	37	3	71037204	71037204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr3:71037204G>A	ENST00000318789.4	-	14	1612	c.1087C>T	c.(1087-1089)Caa>Taa	p.Q363*	FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q365*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q287*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	363	Leucine-zipper.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATCATGGCTTGCAGGCGTTCT	0.428			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1087-1089)Caa>Taa		forkhead box P1							177.0	184.0	181.0					3																	71037204		2203	4300	6503	SO:0001587	stop_gained	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71037204G>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1087C>T	3.37:g.71037204G>A	ENSP00000318902:p.Gln363*					FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q365*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q287*	p.Q363*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	14	1612	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	363			Leucine-zipper.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Nonsense_Mutation	SNP	ENST00000318789.4	37	c.1087C>T	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	39	7.432290	0.98279	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	.	.	.	5.84	5.84	0.93424	.	0.054481	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.1306	0.97998	0.0:0.0:1.0:0.0	.	.	.	.	X	363;175;263;363;363;259;365;363;363;287;363	.	ENSP00000318902:Q363X	Q	-	1	0	FOXP1	71119894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.751000	0.94390	0.655000	0.94253	CAA		0.428	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		63	154	0	0	0	0.139131	0	63	154				
RELN	5649	broad.mit.edu	37	7	103179597	103179597	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr7:103179597C>T	ENST00000428762.1	-	45	7267	c.7108G>A	c.(7108-7110)Gtt>Att	p.V2370I	RELN_ENST00000424685.2_Missense_Mutation_p.V2370I|RELN_ENST00000343529.5_Missense_Mutation_p.V2370I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2370					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCACGGCAACGTCTGTGCTG	0.542																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(7108-7110)Gtt>Att		reelin							115.0	96.0	102.0					7																	103179597		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103179597C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7108G>A	7.37:g.103179597C>T	ENSP00000392423:p.Val2370Ile					RELN_ENST00000343529.5_Missense_Mutation_p.V2370I|RELN_ENST00000428762.1_Missense_Mutation_p.V2370I	p.V2370I			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	45	7267	-			2370					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7108G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	2.372	-0.344039	0.05208	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22539	1.95;1.95;1.95	5.35	1.74	0.24563	Neuraminidase (1);	0.243687	0.41194	N	0.000939	T	0.04724	0.0128	N	0.00879	-1.12	0.24075	N	0.995964	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.43410	-0.9393	10	0.02654	T	1	.	8.7426	0.34567	0.0:0.2181:0.0:0.7819	.	2370;2370	P78509-2;P78509	.;RELN_HUMAN	I	2370	ENSP00000392423:V2370I;ENSP00000345694:V2370I;ENSP00000388446:V2370I	ENSP00000345694:V2370I	V	-	1	0	RELN	102966833	1.000000	0.71417	0.928000	0.36995	0.895000	0.52256	1.697000	0.37784	0.361000	0.24292	-0.238000	0.12139	GTT		0.542	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	46	0	0	0	0.047766	0	7	46				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	66	0	0	0	0.150653	0	3	66				
LDB3	11155	broad.mit.edu	37	10	88447004	88447004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr10:88447004C>T	ENST00000372066.3	+	5	602	c.523C>T	c.(523-525)Caa>Taa	p.Q175*	LDB3_ENST00000263066.6_Nonsense_Mutation_p.Q175*|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000429277.2_Nonsense_Mutation_p.Q290*|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372056.4_Nonsense_Mutation_p.Q290*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.Q175*	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGGGCAGGCCCAAGCCCAAGG	0.637																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(868-870)Caa>Taa		LIM domain binding 3							89.0	104.0	99.0					10																	88447004		2168	4253	6421	SO:0001587	stop_gained	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88447004C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.523C>T	10.37:g.88447004C>T	ENSP00000361136:p.Gln175*					LDB3_ENST00000310944.6_Intron|LDB3_ENST00000372056.4_Nonsense_Mutation_p.Q290*|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Nonsense_Mutation_p.Q175*|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000372066.3_Nonsense_Mutation_p.Q175*|LDB3_ENST00000458213.2_Nonsense_Mutation_p.Q175*	p.Q290*	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			6	1013	+			280						Nonsense_Mutation	SNP	ENST00000372066.3	37	c.868C>T	CCDS41545.1	.	.	.	.	.	.	.	.	.	.	C	37	6.246965	0.97408	.	.	ENSG00000122367	ENST00000429277;ENST00000458213;ENST00000372066;ENST00000263066;ENST00000372056	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	18.6007	0.91247	0.0:1.0:0.0:0.0	.	.	.	.	X	290;175;175;175;290	.	ENSP00000263066:Q175X	Q	+	1	0	LDB3	88436984	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.798000	0.85924	2.407000	0.81776	0.462000	0.41574	CAA		0.637	LDB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049161.1			21	82	0	0	0	0.069288	0	21	82				
KNOP1	400506	broad.mit.edu	37	16	19725711	19725711	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr16:19725711T>G	ENST00000219837.7	-	2	725	c.647A>C	c.(646-648)aAa>aCa	p.K216T	IQCK_ENST00000320394.6_5'Flank|AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'Flank	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	216	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										GTGGATTTTTTTTTTCTTCTT	0.532																																						ENST00000219837.7																			0											c.(646-648)aAa>aCa		lysine-rich nucleolar protein 1							63.0	72.0	69.0					16																	19725711		2178	4297	6475	SO:0001583	missense	400506							g.chr16:19725711T>G	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.647A>C	16.37:g.19725711T>G	ENSP00000219837:p.Lys216Thr					AC002550.5_ENST00000565916.1_RNA	p.K216T	NM_001012991.2	NP_001013009.2					2	725	-								O43328|Q5FWF3	Missense_Mutation	SNP	ENST00000219837.7	37	c.647A>C	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	T	8.331	0.826397	0.16749	.	.	ENSG00000103550	ENST00000219837	T	0.27402	1.67	4.71	3.61	0.41365	.	1.537720	0.04212	N	0.331973	T	0.40522	0.1120	L	0.34521	1.04	0.54753	D	0.999987	D	0.67145	0.996	P	0.62813	0.907	T	0.30909	-0.9962	9	.	.	.	-19.0976	4.1952	0.10440	0.1774:0.0954:0.0:0.7272	.	216	Q1ED39	CP088_HUMAN	T	216	ENSP00000219837:K216T	.	K	-	2	0	C16orf88	19633212	0.999000	0.42202	0.810000	0.32431	0.180000	0.23129	0.832000	0.27490	0.930000	0.37217	0.459000	0.35465	AAA		0.532	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		3	59	0	0	0	0.021553	0	3	59				
NPC1	4864	broad.mit.edu	37	18	21134925	21134925	+	Silent	SNP	G	G	T	rs368945671		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr18:21134925G>T	ENST00000269228.5	-	9	1904	c.1350C>A	c.(1348-1350)atC>atA	p.I450I	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.I200I	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	450					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TAATGTTTTCGATGGCTATTT	0.398																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(1348-1350)atC>atA		Niemann-Pick disease, type C1							107.0	80.0	89.0					18																	21134925		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21134925G>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1350C>A	18.37:g.21134925G>T						NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.I200I	p.I450I	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			9	1904	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		450					B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.1350C>A	CCDS11878.1																																																																																				0.398	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		8	30	1	0	0.0581538	0.058154	0.0596076	8	30				
KIAA1328	57536	broad.mit.edu	37	18	34802090	34802090	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr18:34802090G>T	ENST00000280020.5	+	10	1656	c.1634G>T	c.(1633-1635)cGa>cTa	p.R545L	KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000591619.1_Missense_Mutation_p.R541L|KIAA1328_ENST00000543923.1_Intron	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	545										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGTACTTTCCGACTCAGTCCT	0.478																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1621-1623)cGa>cTa		KIAA1328							45.0	42.0	43.0					18																	34802090		1864	4105	5969	SO:0001583	missense	57536							g.chr18:34802090G>T	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1634G>T	18.37:g.34802090G>T	ENSP00000280020:p.Arg545Leu					KIAA1328_ENST00000280020.5_Missense_Mutation_p.R545L|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000543923.1_Intron	p.R541L			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	10	2408	+			545					Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	c.1622G>T	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	G	5.945	0.358454	0.11239	.	.	ENSG00000150477	ENST00000280020;ENST00000383055	T	0.50277	0.75	5.93	-3.18	0.05186	.	0.790748	0.11311	N	0.577100	T	0.34483	0.0899	L	0.50333	1.59	0.09310	N	1	B;B	0.18013	0.002;0.025	B;B	0.17979	0.011;0.02	T	0.25882	-1.0119	10	0.31617	T	0.26	.	5.9963	0.19495	0.484:0.0:0.3084:0.2077	.	545;545	A8K8C3;Q86T90	.;K1328_HUMAN	L	545	ENSP00000280020:R545L	ENSP00000280020:R545L	R	+	2	0	KIAA1328	33056088	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.898000	0.04105	-0.552000	0.06167	-0.914000	0.02751	CGA		0.478	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		4	15	1	0	1.23904e-05	0.014758	1.37299e-05	4	15				
FBXO15	201456	broad.mit.edu	37	18	71790685	71790685	+	Silent	SNP	G	G	A	rs573445550		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr18:71790685G>A	ENST00000419743.2	-	8	1135	c.1056C>T	c.(1054-1056)caC>caT	p.H352H	FBXO15_ENST00000269500.5_Silent_p.H276H	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	352						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTTGGTAGCCGTGCAGTCCAT	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14837	0.0		0.0	False		,,,				2504	0.0					ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(826-828)caC>caT		F-box protein 15							78.0	72.0	74.0					18																	71790685		2203	4300	6503	SO:0001819	synonymous_variant	201456							g.chr18:71790685G>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1056C>T	18.37:g.71790685G>A						FBXO15_ENST00000419743.2_Silent_p.H352H	p.H276H	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	8	1163	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	276					B3KST3	Silent	SNP	ENST00000419743.2	37	c.828C>T	CCDS45884.1																																																																																				0.443	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		3	59	0	0	0	0.150653	0	3	59				
NYAP1	222950	broad.mit.edu	37	7	100084560	100084560	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr7:100084560C>T	ENST00000300179.2	+	3	344	c.185C>T	c.(184-186)aCg>aTg	p.T62M	NYAP1_ENST00000423930.1_Missense_Mutation_p.T62M|NYAP1_ENST00000454988.1_Missense_Mutation_p.T5M	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	62					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGTTTCATGACGATGCCCGCC	0.751																																						ENST00000423930.1																			0											c.(184-186)aCg>aTg		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							9.0	11.0	11.0					7																	100084560		2166	4254	6420	SO:0001583	missense	222950							g.chr7:100084560C>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.185C>T	7.37:g.100084560C>T	ENSP00000300179:p.Thr62Met					NYAP1_ENST00000454988.1_Missense_Mutation_p.T5M|NYAP1_ENST00000300179.2_Missense_Mutation_p.T62M	p.T62M			Q6ZVC0	CG051_HUMAN			3	344	+			62					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.185C>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766953	0.90020	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.50813	0.73;0.73;0.73	5.03	5.03	0.67393	.	0.000000	0.52532	D	0.000069	T	0.65481	0.2695	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.67891	-0.5553	10	0.87932	D	0	-14.223	15.8881	0.79269	0.0:1.0:0.0:0.0	.	62	Q6ZVC0	CG051_HUMAN	M	62;62;5	ENSP00000300179:T62M;ENSP00000411861:T62M;ENSP00000394424:T5M	ENSP00000300179:T62M	T	+	2	0	C7orf51	99922496	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	6.628000	0.74262	2.606000	0.88127	0.462000	0.41574	ACG		0.751	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		4	11	0	0	0	0.021553	0	4	11				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		4	194	0	0	0	0.014758	0	4	194				
RXFP1	59350	broad.mit.edu	37	4	159549858	159549858	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:159549858delA	ENST00000307765.5	+	11	1147	c.896delA	c.(895-897)gaafs	p.E299fs	RXFP1_ENST00000460056.2_Frame_Shift_Del_p.E218fs|RXFP1_ENST00000343542.5_Frame_Shift_Del_p.E299fs|RXFP1_ENST00000470033.1_Frame_Shift_Del_p.E266fs|RXFP1_ENST00000448688.2_Frame_Shift_Del_p.E194fs	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	299					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AAACTGGATGAATTGTAAGTA	0.264																																						ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(895-897)gafs		relaxin/insulin-like family peptide receptor 1							40.0	39.0	39.0					4																	159549858		1795	4062	5857	SO:0001589	frameshift_variant	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159549858delA	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.896delA	4.37:g.159549858delA	ENSP00000303248:p.Glu299fs					RXFP1_ENST00000448688.2_Frame_Shift_Del_p.E194fs|RXFP1_ENST00000470033.1_Frame_Shift_Del_p.E266fs|RXFP1_ENST00000343542.5_Frame_Shift_Del_p.E299fs|RXFP1_ENST00000460056.2_Frame_Shift_Del_p.E218fs	p.E299fs	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	11	1147	+	all_hematologic(180;0.24)	Renal(120;0.0854)	299					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Frame_Shift_Del	DEL	ENST00000307765.5	37	c.896delA	CCDS43276.1																																																																																				0.264	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		11	31						11	31	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43216290	43216290	+	RNA	DEL	A	A	-			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr8:43216290delA	ENST00000522175.2	+	0	1543							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAAGTGGCCGAAAAAAAAATG	0.284																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A																																						340441							g.chr8:43216290delA	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43216290delA										Q6S8J7	POTEA_HUMAN			0	1543	+								A6ND17|A6ND71|Q6S8J6	RNA	DEL	ENST00000522175.2	37																																																																																						0.284	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		3	4						3	4	---	---	---	---
RP11-180I4.2	0	broad.mit.edu	37	9	98468147	98468148	+	lincRNA	INS	-	-	CAC	rs561681898|rs199576323|rs371929980|rs370440321|rs367832466		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr9:98468147_98468148insCAC	ENST00000580326.1	+	0	189																											acaatcaccatcaccaccacca	0.574																																						ENST00000580326.1																			0																																																			0							g.chr9:98468147_98468148insCAC																													9.37:g.98468154_98468156dupCAC														0	189	+									RNA	INS	ENST00000580326.1	37																																																																																						0.574	RP11-180I4.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000444750.1			3	4						3	4	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120595737	120595739	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr12:120595737_120595739delCTC	ENST00000300648.6	-	26	3013_3015	c.3001_3003delGAG	c.(3001-3003)gagdel	p.E1001del	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1001					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCCATCCACTCCTCCTCCTCC	0.631																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(3001-3003)del		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)																																				SO:0001651	inframe_deletion	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120595737_120595739delCTC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3001_3003delGAG	12.37:g.120595746_120595748delCTC	ENSP00000300648:p.Glu1001del						p.E1001del	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			26	3013_3015	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1001					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	In_Frame_Del	DEL	ENST00000300648.6	37	c.3001_3003delGAG	CCDS41847.1																																																																																				0.631	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			7	121						7	121	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7788212	7788214	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr17:7788212_7788214delGAG	ENST00000380358.4	+	1	89_91	c.88_90delGAG	c.(88-90)gagdel	p.E35del	LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	0					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				agagggcgacgaggaggaggagg	0.685																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(88-90)del		chromodomain helicase DNA binding protein 3				66,3690		5,56,1817						1.5	1.0			14	102,7350		5,92,3629	no	coding	CHD3	NM_001005271.2		10,148,5446	A1A1,A1R,RR		1.3688,1.7572,1.4989				168,11040				SO:0001651	inframe_deletion	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7788212_7788214delGAG	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.88_90delGAG	17.37:g.7788221_7788223delGAG	ENSP00000369716:p.Glu35del					LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576861.1_Intron	p.E35del	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			1	89_91	+		Prostate(122;0.202)	450					D3DTQ9|E9PG89|Q9Y4I0	In_Frame_Del	DEL	ENST00000380358.4	37	c.88_90delGAG	CCDS32553.2																																																																																				0.685	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318052.1	NM_001005273		3	6						3	6	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13319691	13319692	+	In_Frame_Ins	INS	-	-	GGT	rs16052		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:13319691_13319692insGGT	ENST00000360228.5	-	46	6657_6658	c.6658_6659insACC	c.(6658-6660)ccc>cACCcc	p.2219_2220insH	CACNA1A_ENST00000573710.2_In_Frame_Ins_p.2220_2221insH	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2220	Poly-His.				adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGGGGCGGGGGAtggtggtgg	0.733																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(6658-6660)ccc>ACCccc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)																																			SO:0001652	inframe_insertion	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13319691_13319692insGGT	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6658_6659insACC	19.37:g.13319691_13319692insGGT	ENSP00000353362:p.His2219_His2219dup					CACNA1A_ENST00000573710.2_In_Frame_Ins_p.2220_2221insT	p.2219_2220insT	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		46	6657_6658	-			2220			Poly-His.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	In_Frame_Ins	INS	ENST00000360228.5	37	c.6658_6659insACC	CCDS45998.1																																																																																				0.733	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		2	4						2	4	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:19136394delT	ENST00000601879.1	-	3	1060	c.763delA	c.(763-765)atafs	p.I255fs	SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000598202.1_5'UTR			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	255					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						ACGGTGGGTATTTTTTTTGTG	0.502																																						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.(763-765)tafs		SURP and G patch domain containing 2							168.0	156.0	160.0					19																	19136394		2203	4300	6503	SO:0001589	frameshift_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136394delT	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.763delA	19.37:g.19136394delT	ENSP00000472286:p.Ile255fs					SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs	p.I255fs			Q8IX01	SUGP2_HUMAN			3	1060	-			255					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Frame_Shift_Del	DEL	ENST00000601879.1	37	c.763delA	CCDS12392.1																																																																																				0.502	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		9	213						9	213	---	---	---	---
