#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
SPATA18	132671	broad.mit.edu	37	4	52927028	52927028	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr4:52927028G>A	ENST00000295213.4	+	3	648	c.274G>A	c.(274-276)Gga>Aga	p.G92R	SPATA18_ENST00000419395.2_Missense_Mutation_p.G92R|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	92					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGCTTCCCTGGGAAAATCTGT	0.468																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(274-276)Gga>Aga		spermatogenesis associated 18							139.0	114.0	122.0					4																	52927028		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52927028G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.274G>A	4.37:g.52927028G>A	ENSP00000295213:p.Gly92Arg					SPATA18_ENST00000419395.2_Missense_Mutation_p.G92R|SPATA18_ENST00000506829.1_Intron	p.G92R	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		3	648	+			92					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.274G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757670	0.69648	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.33865	1.87;1.39	4.81	4.81	0.61882	.	0.265321	0.37809	N	0.001931	T	0.57858	0.2082	M	0.70275	2.135	0.23366	N	0.997821	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.986	T	0.51888	-0.8648	10	0.72032	D	0.01	-20.9189	13.5497	0.61726	0.0:0.0:1.0:0.0	.	92;92;92	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	R	92	ENSP00000295213:G92R;ENSP00000415309:G92R	ENSP00000295213:G92R	G	+	1	0	SPATA18	52621785	1.000000	0.71417	0.547000	0.28179	0.519000	0.34347	3.568000	0.53820	2.651000	0.90000	0.462000	0.41574	GGA		0.468	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		3	56	0	0	0	1	0	3	56				
PRDM8	56978	broad.mit.edu	37	4	81123252	81123252	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr4:81123252G>C	ENST00000504452.1	+	8	1475	c.636G>C	c.(634-636)caG>caC	p.Q212H	PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H|PRDM8_ENST00000339711.4_Missense_Mutation_p.Q212H			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	212	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcaaagaccagcagcagcagc	0.652											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)caG>caC		PR domain containing 8							21.0	27.0	25.0					4																	81123252		2021	4184	6205	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123252G>C	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.636G>C	4.37:g.81123252G>C	ENSP00000423985:p.Gln212His		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Missense_Mutation_p.Q212H|PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H	p.Q212H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1867	+			212			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.636G>C	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	3.493	-0.103514	0.06967	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.65916	-0.18;0.4;-0.18;-0.18	4.62	-4.47	0.03525	.	5.058670	0.00559	N	0.000261	T	0.46132	0.1377	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26985	-1.0087	10	0.29301	T	0.29	.	8.4825	0.33052	0.2299:0.4579:0.3122:0.0	.	212	Q9NQV8	PRDM8_HUMAN	H	212	ENSP00000423985:Q212H;ENSP00000425149:Q212H;ENSP00000339764:Q212H;ENSP00000406998:Q212H	ENSP00000339764:Q212H	Q	+	3	2	PRDM8	81342276	0.732000	0.28121	0.000000	0.03702	0.003000	0.03518	-1.260000	0.02858	-1.567000	0.01671	-2.229000	0.00292	CAG		0.652	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			6	59	0	0	0	1	0	6	59				
CROCCP2	84809	broad.mit.edu	37	1	16953672	16953672	+	lincRNA	SNP	C	C	T	rs3738597	byFrequency	TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr1:16953672C>T	ENST00000412962.1	-	0	589							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCGGTCTTCTCGGCCTGCAGC	0.652																																						ENST00000412962.1																			0																																																			0							g.chr1:16953672C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16953672C>T														0	589	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.652	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		9	46	0	0	0	1	0	9	46				
PPP1R16B	26051	broad.mit.edu	37	20	37536550	37536550	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr20:37536550C>T	ENST00000299824.1	+	9	1189	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R292W	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	334					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ATCCTTGAGCCGGAGGACCTC	0.607																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1000-1002)Cgg>Tgg		protein phosphatase 1, regulatory subunit 16B							54.0	51.0	52.0					20																	37536550		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37536550C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1000C>T	20.37:g.37536550C>T	ENSP00000299824:p.Arg334Trp					PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R292W	p.R334W	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			9	1189	+		Myeloproliferative disorder(115;0.00878)	334					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1000C>T	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724390	0.68959	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.80304	-0.55;-1.36	5.02	4.07	0.47477	.	0.071774	0.64402	D	0.000009	D	0.86847	0.6031	L	0.54323	1.7	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.88319	0.2961	10	0.87932	D	0	.	14.9629	0.71169	0.1438:0.8562:0.0:0.0	.	292;334	E9PFS8;Q96T49	.;PP16B_HUMAN	W	334;292	ENSP00000299824:R334W;ENSP00000362428:R292W	ENSP00000299824:R334W	R	+	1	2	PPP1R16B	36969964	0.990000	0.36364	1.000000	0.80357	0.908000	0.53690	1.136000	0.31467	1.339000	0.45563	0.644000	0.83932	CGG		0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		4	47	0	0	0	1	0	4	47				
KCNH2	3757	broad.mit.edu	37	7	150647430	150647430	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr7:150647430G>C	ENST00000262186.5	-	9	2625	c.2224C>G	c.(2224-2226)Ccc>Gcc	p.P742A	KCNH2_ENST00000430723.3_Missense_Mutation_p.P742A|KCNH2_ENST00000392968.2_Missense_Mutation_p.P646A|KCNH2_ENST00000330883.4_Missense_Mutation_p.P402A	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	742					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCTCGGAAGGGTTTGCAGTGC	0.652																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1936-1938)Ccc>Gcc		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						65.0	56.0	59.0					7																	150647430		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150647430G>C	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2224C>G	7.37:g.150647430G>C	ENSP00000262186:p.Pro742Ala					KCNH2_ENST00000430723.3_Missense_Mutation_p.P742A|KCNH2_ENST00000330883.4_Missense_Mutation_p.P402A|KCNH2_ENST00000262186.5_Missense_Mutation_p.P742A	p.P646A			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	3056	-	all_neural(206;0.219)		742					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1936C>G	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	3.248	-0.153820	0.06585	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000430723	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	4.84	4.84	0.62591	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.062800	0.64402	D	0.000005	T	0.80025	0.4548	N	0.00064	-2.31	0.49798	D	0.99982	B;B;B;B;B	0.17038	0.02;0.012;0.0;0.004;0.003	B;B;B;B;B	0.12156	0.007;0.006;0.001;0.003;0.004	T	0.82032	-0.0658	10	0.02654	T	1	.	15.4653	0.75394	0.0:0.0:1.0:0.0	.	646;742;402;742;402	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	A	402;646;742;742	ENSP00000328531:P402A;ENSP00000376695:P646A;ENSP00000262186:P742A;ENSP00000387657:P742A	ENSP00000262186:P742A	P	-	1	0	KCNH2	150278363	0.986000	0.35501	1.000000	0.80357	0.807000	0.45602	2.210000	0.42816	2.236000	0.73375	0.305000	0.20034	CCC		0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		4	87	0	0	0	1	0	4	87				
ZNF207	7756	broad.mit.edu	37	17	30685544	30685544	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr17:30685544C>T	ENST00000321233.6	+	3	345	c.191C>T	c.(190-192)gCc>gTc	p.A64V	ZNF207_ENST00000577908.1_Missense_Mutation_p.A64V|ZNF207_ENST00000342555.6_Missense_Mutation_p.A67V|ZNF207_ENST00000394670.4_Missense_Mutation_p.A64V|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_Missense_Mutation_p.A64V|ZNF207_ENST00000341711.6_Intron	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	64	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A64G(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACAATAGATGCCGTACCAAAT	0.323																																						ENST00000394670.4																			1	Substitution - Missense(1)	p.A64G(1)	urinary_tract(1)	breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(190-192)gCc>gTc		zinc finger protein 207							81.0	82.0	82.0					17																	30685544		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30685544C>T	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.191C>T	17.37:g.30685544C>T	ENSP00000322777:p.Ala64Val					ZNF207_ENST00000341711.6_Intron|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_Missense_Mutation_p.A64V|ZNF207_ENST00000577908.1_Missense_Mutation_p.A64V|ZNF207_ENST00000321233.6_Missense_Mutation_p.A64V|ZNF207_ENST00000342555.6_Missense_Mutation_p.A67V	p.A64V	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		3	360	+		Breast(31;0.116)|Ovarian(249;0.182)	64					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.191C>T	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720980	0.48728	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000342555	T;T;T	0.42900	0.96;0.96;0.96	4.81	4.81	0.61882	.	0.103913	0.64402	D	0.000003	T	0.43964	0.1271	L	0.54323	1.7	0.80722	D	1	P;P;P;P;P	0.46784	0.782;0.884;0.884;0.728;0.728	B;B;B;B;B	0.42916	0.327;0.402;0.402;0.277;0.277	T	0.41324	-0.9515	10	0.37606	T	0.19	.	18.2267	0.89920	0.0:1.0:0.0:0.0	.	64;67;64;64;64	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	V	64;64;67;64;64	ENSP00000378165:A64V;ENSP00000378168:A64V;ENSP00000322777:A64V	ENSP00000322777:A64V	A	+	2	0	ZNF207	27709657	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.762000	0.68809	2.381000	0.81170	0.650000	0.86243	GCC		0.323	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			4	76	0	0	0	1	0	4	76				
PRKG1	5592	broad.mit.edu	37	10	54042040	54042040	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr10:54042040C>T	ENST00000401604.2	+	14	1822	c.1628C>T	c.(1627-1629)tCa>tTa	p.S543L	PRKG1_ENST00000373980.4_Missense_Mutation_p.S558L|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.S531L|PRKG1_ENST00000373975.2_Missense_Mutation_p.S261L|PRKG1-AS1_ENST00000452247.2_RNA			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	543	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GACTACTGGTCACTGGGAATC	0.453																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(1672-1674)tCa>tTa		protein kinase, cGMP-dependent, type I							106.0	94.0	98.0					10																	54042040		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54042040C>T		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1628C>T	10.37:g.54042040C>T	ENSP00000384200:p.Ser543Leu					PRKG1_ENST00000401604.2_Missense_Mutation_p.S543L|PRKG1_ENST00000373985.1_Missense_Mutation_p.S531L|PRKG1_ENST00000373975.2_Missense_Mutation_p.S261L|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA	p.S558L	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	14	2090	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	543			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1673C>T	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341967	0.95783	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.21361	2.01;2.01;2.01	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	H	0.96720	3.87	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.77557	0.959;0.982;0.99	T	0.76231	-0.3035	10	0.87932	D	0	-11.8371	19.6346	0.95724	0.0:1.0:0.0:0.0	.	261;558;543	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	L	543;531;558;261;155	ENSP00000384200:S543L;ENSP00000363097:S531L;ENSP00000363092:S558L	ENSP00000327642:S261L	S	+	2	0	PRKG1	53712046	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.770000	0.85390	2.814000	0.96858	0.563000	0.77884	TCA		0.453	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	68	0	0	0	1	0	4	68				
TUBBP5	643224	broad.mit.edu	37	9	141070915	141070915	+	RNA	SNP	C	C	T			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr9:141070915C>T	ENST00000503395.1	+	0	1690									tubulin, beta pseudogene 5									p.T178T(1)									TGTCAGACACCGTGGTGGAGC	0.522																																						ENST00000503395.1																			1	Substitution - coding silent(1)	p.T178T(1)	prostate(1)																																																0							g.chr9:141070915C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070915C>T														0	1690	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.522	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		3	62	0	0	0	1	0	3	62				
TAP1	6890	broad.mit.edu	37	6	32813387	32813387	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr6:32813387A>G	ENST00000354258.4	-	11	2557	c.2396T>C	c.(2395-2397)aTg>aCg	p.M799T	PSMB8_ENST00000374882.3_5'Flank|TAP1_ENST00000425148.2_Missense_Mutation_p.M538T|PSMB8_ENST00000374881.2_5'Flank|PSMB9_ENST00000395330.1_Intron|PSMB8_ENST00000395339.3_5'Flank|TAPSAR1_ENST00000453426.1_lincRNA	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	799	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AGCCTGCACCATGGCCCAGTA	0.582																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(2395-2397)aTg>aCg		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							59.0	58.0	58.0					6																	32813387		1511	2709	4220	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32813387A>G		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.2396T>C	6.37:g.32813387A>G	ENSP00000346206:p.Met799Thr					XXbac-BPG246D15.8_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.M538T	p.M799T	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			11	2557	-			799			ABC transporter.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.2396T>C	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.097118	0.37048	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	T;T	0.76316	-1.01;-1.01	5.85	5.85	0.93711	ABC transporter-like (1);	0.000000	0.64402	D	0.000015	T	0.66396	0.2785	L	0.38175	1.15	0.40275	D	0.978331	P	0.43314	0.803	P	0.45881	0.496	T	0.74250	-0.3726	10	0.87932	D	0	-19.9923	12.625	0.56623	1.0:0.0:0.0:0.0	.	799	Q03518	TAP1_HUMAN	T	799;538	ENSP00000346206:M799T;ENSP00000401919:M538T	ENSP00000346206:M799T	M	-	2	0	TAP1	32921365	1.000000	0.71417	0.998000	0.56505	0.065000	0.16274	5.005000	0.63972	2.233000	0.73108	0.523000	0.50628	ATG		0.582	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		3	37	0	0	0	1	0	3	37				
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)gaG>gaA		KN motif and ankyrin repeat domains 1							153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732477G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A						KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR	p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1035					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3105G>A	CCDS34976.1																																																																																				0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		4	95	0	0	0	1	0	4	95				
ATAD3B	83858	broad.mit.edu	37	1	1425747	1425747	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr1:1425747G>A	ENST00000308647.7	+	14	1564	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	483						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAGCGGGAGCGCCTGGTGAGA	0.592																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1447-1449)cGc>cAc		ATPase family, AAA domain containing 3B							74.0	65.0	68.0					1																	1425747		2202	4299	6501	SO:0001583	missense	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1425747G>A	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1448G>A	1.37:g.1425747G>A	ENSP00000311766:p.Arg483His						p.R483H	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	14	1564	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	483					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	c.1448G>A	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	14.82	2.650807	0.47362	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	D	0.95137	-3.62	2.07	2.07	0.26955	.	0.000000	0.85682	D	0.000000	D	0.96713	0.8927	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.96520	0.9385	10	0.87932	D	0	.	11.3902	0.49809	0.0:0.0:1.0:0.0	.	437;483	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	H	286;483	ENSP00000311766:R483H	ENSP00000311766:R483H	R	+	2	0	ATAD3B	1415610	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	9.351000	0.97073	1.139000	0.42245	0.205000	0.17691	CGC		0.592	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		3	55	0	0	0	1	0	3	55				
KLHL41	10324	broad.mit.edu	37	2	170367317	170367317	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr2:170367317G>C	ENST00000284669.1	+	1	1106	c.1029G>C	c.(1027-1029)caG>caC	p.Q343H	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	343					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TTGTTACCCAGCAAAATCAGA	0.423																																						ENST00000284669.1																			0											c.(1027-1029)caG>caC		kelch-like family member 41							94.0	96.0	95.0					2																	170367317		2203	4300	6503	SO:0001583	missense	10324							g.chr2:170367317G>C	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1029G>C	2.37:g.170367317G>C	ENSP00000284669:p.Gln343His					BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.Q343H	NM_006063.2	NP_006054.2					1	1106	+								Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.1029G>C	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	G	9.524	1.108988	0.20714	.	.	ENSG00000239474	ENST00000284669	T	0.65732	-0.17	5.47	0.245	0.15512	Kelch-type beta propeller (1);	0.099932	0.64402	D	0.000003	T	0.42765	0.1217	N	0.19112	0.55	0.33846	D	0.632009	B	0.14438	0.01	B	0.20384	0.029	T	0.36065	-0.9763	10	0.42905	T	0.14	.	9.3042	0.37865	0.7076:0.0:0.2924:0.0	.	343	O60662	KBTBA_HUMAN	H	343	ENSP00000284669:Q343H	ENSP00000284669:Q343H	Q	+	3	2	KBTBD10	170075563	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	1.006000	0.29847	-0.188000	0.10499	0.467000	0.42956	CAG		0.423	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		3	69	0	0	0	1	0	3	69				
RP11-423O2.5	0	broad.mit.edu	37	1	142803646	142803646	+	lincRNA	SNP	G	G	A			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr1:142803646G>A	ENST00000423385.1	-	0	1319																											gttgtattctgggctagacat	0.299																																						ENST00000423385.1																			0																																																			0							g.chr1:142803646G>A																													1.37:g.142803646G>A														0	1319	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.299	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			10	54	0	0	0	1	0	10	54				
NRXN1	9378	broad.mit.edu	37	2	50765424	50765424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr2:50765424C>A	ENST00000406316.2	-	10	3586	c.2110G>T	c.(2110-2112)Gga>Tga	p.G704*	NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G704*|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.G744*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G704*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G696*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	704	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGCCTGTTCCGGAACAATCA	0.463																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2230-2232)Gga>Tga		neurexin 1							144.0	143.0	143.0					2																	50765424		2006	4177	6183	SO:0001587	stop_gained	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765424C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2110G>T	2.37:g.50765424C>A	ENSP00000384311:p.Gly704*					NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G704*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G704*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.G704*	p.G744*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3569	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	704			Laminin G-like 4.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.2230G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	49	15.610563	0.99839	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.7326	0.91741	0.0:1.0:0.0:0.0	.	.	.	.	X	744;704;696;704;745;696;704	.	ENSP00000385017:G704X	G	-	1	0	NRXN1	50618928	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.651000	0.83577	2.649000	0.89929	0.650000	0.86243	GGA		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	176	1	0	2.56e-06	1	2.98667e-06	4	176				
BBS4	585	broad.mit.edu	37	15	73004613	73004613	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr15:73004613C>A	ENST00000268057.4	+	4	226	c.185C>A	c.(184-186)aCt>aAt	p.T62N	BBS4_ENST00000539603.1_Missense_Mutation_p.T50N|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.T70N	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	62	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CTTCAAGAGACTCAGGGATTG	0.378									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(184-186)aCt>aAt		Bardet-Biedl syndrome 4							137.0	121.0	126.0					15																	73004613		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73004613C>A	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.185C>A	15.37:g.73004613C>A	ENSP00000268057:p.Thr62Asn					BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.T50N|BBS4_ENST00000395205.2_Missense_Mutation_p.T70N|BBS4_ENST00000542334.1_5'UTR	p.T62N	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			4	226	+			62			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.185C>A	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246263	0.59103	.	.	ENSG00000140463	ENST00000268057;ENST00000539603;ENST00000395205	T;T;T	0.72394	-0.65;-0.62;-0.65	5.24	4.31	0.51392	Tetratricopeptide-like helical (1);	0.045717	0.85682	D	0.000000	T	0.69869	0.3159	L	0.53249	1.67	0.80722	D	1	P;D;P	0.59357	0.946;0.985;0.848	B;P;B	0.51999	0.413;0.687;0.374	T	0.69057	-0.5246	10	0.02654	T	1	-15.093	14.5882	0.68344	0.0:0.8525:0.1475:0.0	.	50;70;62	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	N	62;50;70	ENSP00000268057:T62N;ENSP00000442492:T50N;ENSP00000378631:T70N	ENSP00000268057:T62N	T	+	2	0	BBS4	70791666	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.836000	0.62789	1.171000	0.42768	0.591000	0.81541	ACT		0.378	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		3	54	1	0	0.004672	1	0.00511	3	54				
IGKV1D-16	28901	broad.mit.edu	37	2	90139477	90139477	+	RNA	SNP	G	G	A	rs2848291		TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr2:90139477G>A	ENST00000492446.1	+	0	275									immunoglobulin kappa variable 1D-16																		GTCCCATCAAGGTTCAGCGGC	0.483																																						ENST00000492446.1																			0																				95.0	98.0	97.0					2																	90139477		1847	4084	5931			0							g.chr2:90139477G>A	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139477G>A														0	275	+									RNA	SNP	ENST00000492446.1	37																																																																																						0.483	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		4	186	0	0	0	1	0	4	186				
ABHD8	79575	broad.mit.edu	37	19	17412031	17412031	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr19:17412031G>A	ENST00000247706.3	-	2	634	c.395C>T	c.(394-396)gCc>gTc	p.A132V	MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	132							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						gctgccgGGGGCCAAGCGGCC	0.726																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(394-396)gCc>gTc		abhydrolase domain containing 8							9.0	11.0	10.0					19																	17412031		1894	3727	5621	SO:0001583	missense	79575						hydrolase activity	g.chr19:17412031G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.395C>T	19.37:g.17412031G>A	ENSP00000247706:p.Ala132Val					MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.A132V	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	634	-			132					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.395C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	4.772	0.143592	0.09134	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.30714	1.52	5.33	-1.59	0.08453	.	0.950455	0.08804	N	0.891310	T	0.11239	0.0274	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.26780	-1.0093	10	0.28530	T	0.3	-0.1383	3.7919	0.08724	0.141:0.302:0.4451:0.1119	.	132	Q96I13	ABHD8_HUMAN	V	132;78	ENSP00000247706:A132V	ENSP00000247706:A132V	A	-	2	0	ABHD8	17273031	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	-0.057000	0.11768	-0.530000	0.06349	-0.311000	0.09066	GCC		0.726	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		3	42	0	0	0	1	0	3	42				
RP11-337C18.8	0	broad.mit.edu	37	1	146651056	146651056	+	RNA	SNP	C	C	G			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr1:146651056C>G	ENST00000607149.1	+	0	350				RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.9_ENST00000606152.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA																							CCATATACTTCTCTCCAGCCA	0.418																																						ENST00000607149.1																			0																																																			0							g.chr1:146651056C>G																													1.37:g.146651056C>G														0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.418	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			5	77	0	0	0	1	0	5	77				
CACNA1E	777	broad.mit.edu	37	1	181745336	181745336	+	Missense_Mutation	SNP	G	G	A	rs368636412		TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr1:181745336G>A	ENST00000367573.2	+	38	5239	c.5239G>A	c.(5239-5241)Gtc>Atc	p.V1747I	CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1728I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1747I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1698I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1728I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1679I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1354I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1747	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTTTGTCCGCGTCTGGGCAGA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18929	0.001		0.0	False		,,,				2504	0.0					ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5182-5184)Gtc>Atc		calcium channel, voltage-dependent, R type, alpha 1E subunit		G	ILE/VAL,ILE/VAL,ILE/VAL	1,3941		0,1,1970	122.0	123.0	123.0		5239,5239,5182	4.0	0.9	1		123	0,8296		0,0,4148	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,1,6118	AA,AG,GG		0.0,0.0254,0.0082	benign,benign,benign	1747/2271,1747/2314,1728/2252	181745336	1,12237	1971	4148	6119	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181745336G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5239G>A	1.37:g.181745336G>A	ENSP00000356545:p.Val1747Ile					CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1698I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1747I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1747I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1728I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1679I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1354I	p.V1728I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			37	5347	+			1747					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5182G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904911	0.52333	2.54E-4	0.0	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96104	-3.86;-3.85;-3.91;-3.84;-3.9;-3.91;-3.91	5.83	3.95	0.45737	.	0.050953	0.85682	D	0.000000	D	0.88123	0.6352	N	0.25201	0.72	0.44030	D	0.996754	B;B;B	0.15141	0.003;0.012;0.005	B;B;B	0.15052	0.012;0.005;0.004	T	0.79902	-0.1607	10	0.12430	T	0.62	.	5.692	0.17835	0.3568:0.0:0.6432:0.0	.	1728;1747;1747	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1747;1728;1698;1679;1354;1728;1747	ENSP00000356542:V1747I;ENSP00000434814:V1728I;ENSP00000350183:V1698I;ENSP00000351101:V1679I;ENSP00000356539:V1354I;ENSP00000353222:V1728I;ENSP00000356545:V1747I	ENSP00000350183:V1698I	V	+	1	0	CACNA1E	180011959	1.000000	0.71417	0.938000	0.37757	0.993000	0.82548	4.211000	0.58507	1.472000	0.48140	0.655000	0.94253	GTC		0.612	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		5	156	0	0	0	1	0	5	156				
SKIL	6498	broad.mit.edu	37	3	170078822	170078822	+	Silent	SNP	C	C	A			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr3:170078822C>A	ENST00000458537.3	+	1	1412	c.703C>A	c.(703-705)Cgg>Agg	p.R235R	SKIL_ENST00000413427.2_Silent_p.R235R|SKIL_ENST00000259119.4_Silent_p.R235R|SKIL_ENST00000426052.2_Silent_p.R215R	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	235					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGCTTTATTGCGGCCACGAAC	0.433																																						ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(703-705)Cgg>Agg		SKI-like oncogene							112.0	98.0	103.0					3																	170078822		2203	4300	6503	SO:0001819	synonymous_variant	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078822C>A	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.703C>A	3.37:g.170078822C>A						SKIL_ENST00000259119.4_Silent_p.R235R|SKIL_ENST00000426052.2_Silent_p.R215R|SKIL_ENST00000413427.2_Silent_p.R235R	p.R235R	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		1	1412	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		235					A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	37	c.703C>A	CCDS33890.1																																																																																				0.433	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		4	145	1	0	0.00909568	1	0.0093632	4	145				
CTC-228N24.1	0	broad.mit.edu	37	5	127122030	127122030	+	lincRNA	DEL	A	A	-	rs537299729		TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr5:127122030delA	ENST00000514853.2	+	0	278																											TCTGTGACAGAAAAAAAAAAG	0.388																																						ENST00000514853.2																			0																																																			0							g.chr5:127122030delA																													5.37:g.127122030delA														0	278	+									RNA	DEL	ENST00000514853.2	37																																																																																						0.388	CTC-228N24.1-001	KNOWN	not_organism_supported|basic	lincRNA	lincRNA	OTTHUMT00000372464.3			7	70						7	70	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26428450	26428451	+	RNA	INS	-	-	A	rs139821417|rs79568516		TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr6:26428450_26428451insA	ENST00000466808.2	+	0	1304							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											tgtgtctaattaaaaaaaaaaa	0.45																																						ENST00000466808.2																			0																																																			0							g.chr6:26428450_26428451insA	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26428461_26428461dupA														0	1304	+								A6NEF4	RNA	INS	ENST00000466808.2	37																																																																																						0.450	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		3	5						3	5	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-	rs532596157		TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6673270delA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6673270delA			OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635					Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	1071	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.502	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		3	4						3	4	---	---	---	---
LINC00539	100652865	broad.mit.edu	37	13	21894829	21894831	+	lincRNA	DEL	TGG	TGG	-			TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr13:21894829_21894831delTGG	ENST00000434601.3	-	0	473									long intergenic non-protein coding RNA 539																		CAGAAGGGGATGGTGGAGACTGA	0.591																																						ENST00000434601.2																			0																																																			0							g.chr13:21894829_21894831delTGG	BG940872		13q12.11	2013-08-05			ENSG00000244054	ENSG00000224429		"""Long non-coding RNAs"""	43672	non-coding RNA	RNA, long non-coding			"""long intergenic non-protein coding RNA 422"""	LINC00422			Standard	NR_103840		Approved				OTTHUMG00000016541		13.37:g.21894832_21894834delTGG								NR_103840.1						0	473	-									RNA	DEL	ENST00000434601.3	37																																																																																						0.591	LINC00539-004	NOVEL	basic	lincRNA	lincRNA	OTTHUMT00000472271.1			6	9						6	9	---	---	---	---
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518|rs397823434|rs35401447	byFrequency	TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gag>gaAGAg	p.152_152E>EE	MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	152					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.52														784	0.15655	0.0847	0.1902	5008	,	,		20517	0.0575		0.2684	False		,,,				2504	0.2168					ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(454-456)gca>gAGAca		retrotransposon-like 1				459,3511		59,341,1585						2.5	0.0		dbSNP_126	223	2155,5335		412,1331,2002	no	coding	RTL1	NM_001134888.2		471,1672,3587	A1A1,A1R,RR		28.7717,11.5617,22.8098				2614,8846				SO:0001652	inframe_insertion	388015							g.chr14:101350670_101350671insTCT		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.453_455dupAGA	14.37:g.101350671_101350673dupTCT	ENSP00000435342:p.Glu152dup						p.152_152A>ET	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	513_514	-			152					E9PKS8	In_Frame_Ins	INS	ENST00000534062.1	37	c.455_456insAGA	CCDS53910.1																																																																																				0.520	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		5	3						5	3	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29372348	29372348	+	RNA	DEL	T	T	-	rs368280985		TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr16:29372348delT	ENST00000507381.1	+	0	497				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		TGGGAGGttgttttttttttt	0.478																																						ENST00000398878.3																			0																																																			0							g.chr16:29372348delT	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29372348delT						SNX29P2_ENST00000507381.1_RNA								0	1186	+									RNA	DEL	ENST00000507381.1	37																																																																																						0.478	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361855.1	NR_002939		7	9						7	9	---	---	---	---
GALR2	8811	broad.mit.edu	37	17	74073448	74073457	+	Frame_Shift_Del	DEL	GTCCTGGCCC	GTCCTGGCCC	-	rs67693166|rs66906990	byFrequency	TCGA-EJ-A8FP-01A-21D-A364-08	TCGA-EJ-A8FP-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac97df1b-05e5-4a00-a8b6-62d758397f3b	2f1be801-cd94-47b5-90b7-e2aea915e66b	g.chr17:74073448_74073457delGTCCTGGCCC	ENST00000329003.3	+	2	1190_1199	c.1100_1109delGTCCTGGCCC	c.(1099-1110)tgtcctggcccgfs	p.CPGP367fs	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	367					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTCGAGCCCTGTCCTGGCCCGTCCTGGCAG	0.657														157	0.0313498	0.09	0.0173	5008	,	,		17776	0.0		0.0119	False		,,,				2504	0.0143					ENST00000329003.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(1099-1110)tgfs		galanin receptor 2				205,3565		39,127,1719						-4.3	0.0		dbSNP_130	5	75,7411		6,63,3674	no	frameshift	GALR2	NM_003857.2		45,190,5393	A1A1,A1R,RR		1.0019,5.4377,2.4876				280,10976				SO:0001589	frameshift_variant	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74073448_74073457delGTCCTGGCCC	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.1100_1109delGTCCTGGCCC	17.37:g.74073448_74073457delGTCCTGGCCC	ENSP00000329684:p.Cys367fs						p.CPGP367fs	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN			2	1190_1199	+			367					A5JUU4|Q32MN8	Frame_Shift_Del	DEL	ENST00000329003.3	37	c.1100_1109delGTCCTGGCCC	CCDS11739.1																																																																																				0.657	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			4	7						4	7	---	---	---	---
