#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
HKDC1	80201	broad.mit.edu	37	10	71007216	71007216	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr10:71007216G>A	ENST00000354624.5	+	9	1265	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	HKDC1_ENST00000395086.2_Missense_Mutation_p.V378I	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	378	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.V378I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTGTACCATCGTCTCCTTCCG	0.582																																						ENST00000354624.5																			1	Substitution - Missense(1)	p.V378I(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1132-1134)Gtc>Atc		hexokinase domain containing 1							111.0	105.0	107.0					10																	71007216		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71007216G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1132G>A	10.37:g.71007216G>A	ENSP00000346643:p.Val378Ile					HKDC1_ENST00000395086.2_Missense_Mutation_p.V378I	p.V378I	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			9	1265	+			378					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1132G>A	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054394	0.93793	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.96716	-4.1;-4.1	4.84	4.84	0.62591	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96294	0.8791	L	0.50847	1.595	0.80722	D	1	D	0.64830	0.994	P	0.53224	0.721	D	0.96187	0.9135	10	0.49607	T	0.09	-31.6894	18.1044	0.89516	0.0:0.0:1.0:0.0	.	378	Q2TB90	HKDC1_HUMAN	I	378	ENSP00000346643:V378I;ENSP00000378521:V378I	ENSP00000346643:V378I	V	+	1	0	HKDC1	70677222	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.657000	0.98554	2.498000	0.84270	0.561000	0.74099	GTC		0.582	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		13	90	0	0	0	0.016723	0	13	90				
DMBX1	127343	broad.mit.edu	37	1	46977762	46977762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:46977762C>T	ENST00000360032.3	+	4	744	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	DMBX1_ENST00000371956.4_Missense_Mutation_p.L249F	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1									p.L249F(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGGGGTGGCCTCCTGGGCCC	0.627																																						ENST00000371956.4																			1	Substitution - Missense(1)	p.L249F(1)	prostate(1)	endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(745-747)Ctc>Ttc		diencephalon/mesencephalon homeobox 1							100.0	106.0	104.0					1																	46977762		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46977762C>T	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.730C>T	1.37:g.46977762C>T	ENSP00000353132:p.Leu244Phe					DMBX1_ENST00000360032.3_Missense_Mutation_p.L244F	p.L249F	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			4	760	+	Acute lymphoblastic leukemia(166;0.155)		249						Missense_Mutation	SNP	ENST00000360032.3	37	c.745C>T	CCDS536.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145634	0.37923	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.93604	-3.17;-3.25	4.49	2.42	0.29668	.	0.751551	0.11692	N	0.538761	T	0.80287	0.4595	N	0.08118	0	0.28338	N	0.921496	P;P	0.40050	0.698;0.7	B;B	0.35550	0.101;0.205	T	0.74090	-0.3777	10	0.09843	T	0.71	.	5.2806	0.15673	0.0:0.5706:0.2323:0.1971	.	249;244	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	F	249;244	ENSP00000361024:L249F;ENSP00000353132:L244F	ENSP00000353132:L244F	L	+	1	0	DMBX1	46750349	0.996000	0.38824	0.981000	0.43875	0.770000	0.43624	0.430000	0.21428	1.230000	0.43646	0.655000	0.94253	CTC		0.627	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			59	289	0	0	0	0.014410	0	59	289				
IREB2	3658	broad.mit.edu	37	15	78777134	78777134	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:78777134A>G	ENST00000258886.8	+	12	1594	c.1445A>G	c.(1444-1446)gAa>gGa	p.E482G	RP11-650L12.1_ENST00000560094.1_RNA	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	482					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.E482G(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ATTGCAGCTGAAAAACAAAAG	0.333																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			1	Substitution - Missense(1)	p.E482G(1)	prostate(1)	central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(1444-1446)gAa>gGa		iron-responsive element binding protein 2							98.0	90.0	92.0					15																	78777134		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78777134A>G	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1445A>G	15.37:g.78777134A>G	ENSP00000258886:p.Glu482Gly						p.E482G	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	12	1594	+			482					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.1445A>G	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496307	0.64186	.	.	ENSG00000136381	ENST00000258886	T	0.18016	2.24	5.72	5.72	0.89469	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.086938	0.85682	D	0.000000	T	0.24812	0.0602	L	0.49640	1.575	0.80722	D	1	P	0.47484	0.896	P	0.46510	0.519	T	0.00706	-1.1601	10	0.59425	D	0.04	6.0076	16.2962	0.82776	1.0:0.0:0.0:0.0	.	482	P48200	IREB2_HUMAN	G	482	ENSP00000258886:E482G	ENSP00000258886:E482G	E	+	2	0	IREB2	76564189	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.065000	0.93941	2.304000	0.77564	0.528000	0.53228	GAA		0.333	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		3	139	0	0	0	0.004672	0	3	139				
MGAT4C	25834	broad.mit.edu	37	12	86373542	86373542	+	Missense_Mutation	SNP	G	G	A	rs145801611	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:86373542G>A	ENST00000604798.1	-	8	2166	c.962C>T	c.(961-963)aCg>aTg	p.T321M	MGAT4C_ENST00000552808.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000548651.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552435.2_Silent_p.D109D|MGAT4C_ENST00000393205.2_Missense_Mutation_p.T350M|MGAT4C_ENST00000549405.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000332156.1_Missense_Mutation_p.T321M			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	321					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.T321M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTATTCTCCGTCCCTTTGTA	0.403																																						ENST00000604798.1																			1	Substitution - Missense(1)	p.T321M(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(961-963)aCg>aTg		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)		G	MET/THR	0,4406	2.1+/-5.4	0,0,2203	79.0	77.0	77.0		962	2.9	0.0	12	dbSNP_134	77	10,8590	7.1+/-27.0	0,10,4290	yes	missense	MGAT4C	NM_013244.3	81	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	possibly-damaging	321/479	86373542	10,12996	2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373542G>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.962C>T	12.37:g.86373542G>A	ENSP00000474896:p.Thr321Met					MGAT4C_ENST00000393205.2_Missense_Mutation_p.T350M|MGAT4C_ENST00000552808.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000548651.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000332156.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552435.2_Silent_p.D109D|MGAT4C_ENST00000549405.2_Missense_Mutation_p.T321M	p.T321M			Q9UBM8	MGT4C_HUMAN			8	2166	-			321					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.962C>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	6.016	0.371253	0.11409	0.0	0.001163	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.75	2.87	0.33458	.	0.333197	0.30800	N	0.008846	T	0.40145	0.1105	L	0.58101	1.795	0.20703	N	0.999869	P;P	0.41848	0.763;0.643	B;B	0.38156	0.266;0.266	T	0.30937	-0.9961	10	0.56958	D	0.05	-15.6009	7.4525	0.27246	0.0659:0.1231:0.683:0.128	.	350;321	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	M	321;350;321;321;321;321;321	ENSP00000331664:T321M;ENSP00000376900:T350M;ENSP00000449022:T321M;ENSP00000446647:T321M;ENSP00000447253:T321M;ENSP00000449172:T321M	ENSP00000331664:T321M	T	-	2	0	MGAT4C	84897673	1.000000	0.71417	0.006000	0.13384	0.001000	0.01503	5.731000	0.68554	0.328000	0.23435	-0.171000	0.13296	ACG		0.403	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		8	162	0	0	0	0.003080	0	8	162				
CEACAM3	1084	broad.mit.edu	37	19	42312921	42312921	+	Silent	SNP	G	G	A	rs61747599	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:42312921G>A	ENST00000357396.3	+	3	736	c.495G>A	c.(493-495)gcG>gcA	p.A165A	CEACAM3_ENST00000344550.4_Silent_p.A165A|CEACAM3_ENST00000221999.4_Silent_p.A165A|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	165						integral component of membrane (GO:0016021)		p.A165A(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TCGGAGTGGCGCTGGTGGCCG	0.607													g|||	5	0.000998403	0.0038	0.0	5008	,	,		16945	0.0		0.0	False		,,,				2504	0.0					ENST00000357396.3																			1	Substitution - coding silent(1)	p.A165A(1)	prostate(1)	endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(493-495)gcG>gcA		carcinoembryonic antigen-related cell adhesion molecule 3		G		3,4403	6.2+/-15.9	0,3,2200	140.0	137.0	138.0		495	-5.7	0.0	19	dbSNP_129	138	0,8600		0,0,4300	no	coding-synonymous	CEACAM3	NM_001815.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		165/253	42312921	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1084					integral to membrane		g.chr19:42312921G>A	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.495G>A	19.37:g.42312921G>A						CEACAM3_ENST00000344550.4_Silent_p.A165A|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.A165A	p.A165A	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN			3	736	+			165					G5E978|Q3KPH9	Silent	SNP	ENST00000357396.3	37	c.495G>A	CCDS12586.2																																																																																				0.607	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		72	282	0	0	0	0.014410	0	72	282				
MYCT1	80177	broad.mit.edu	37	6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A	rs375330501		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:153043291G>A	ENST00000367245.5	+	2	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	204						nucleus (GO:0005634)		p.R204H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532																																						ENST00000367245.5																			1	Substitution - Missense(1)	p.R204H(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(610-612)cGt>cAt		myc target 1		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	111.0	106.0	108.0		611	5.8	0.5	6		108	0,8600		0,0,4300	no	missense	MYCT1	NM_025107.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	204/236	153043291	3,13003	2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153043291G>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.611G>A	6.37:g.153043291G>A	ENSP00000356214:p.Arg204His					MYCT1_ENST00000529453.1_Intron	p.R204H	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	619	+		Ovarian(120;0.0654)	204					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.611G>A	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.40|16.40	3.112581|3.112581	0.56398|0.56398	6.81E-4|6.81E-4	0.0|0.0	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.53857|.	0.6|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.166647|.	0.52532|.	D|.	0.000078|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;B|.	0.32939|.	0.391;0.391|.	B;B|.	0.24541|.	0.054;0.037|.	T|T	0.53027|0.53027	-0.8496|-0.8496	10|5	0.59425|.	D|.	0.04|.	-15.1274|-15.1274	14.2344|14.2344	0.65916|0.65916	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	156;204|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	H|I	204|185	ENSP00000356214:R204H|.	ENSP00000356214:R204H|.	R|V	+|+	2|1	0|0	MYCT1|MYCT1	153084984|153084984	0.837000|0.837000	0.29446|0.29446	0.470000|0.470000	0.27216|0.27216	0.982000|0.982000	0.71751|0.71751	1.575000|1.575000	0.36493|0.36493	2.736000|2.736000	0.93811|0.93811	0.591000|0.591000	0.81541|0.81541	CGT|GTC		0.532	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		25	139	0	0	0	0.021523	0	25	139				
TEX43	389320	broad.mit.edu	37	5	125967461	125967461	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:125967461C>G	ENST00000357147.3	+	1	48	c.35C>G	c.(34-36)cCt>cGt	p.P12R		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		12								p.P12R(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CCTACTTTGCCTAAACTCACT	0.378																																						ENST00000357147.3																			1	Substitution - Missense(1)	p.P12R(1)	prostate(1)	large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						c.(34-36)cCt>cGt		chromosome 5 open reading frame 48							203.0	178.0	187.0					5																	125967461		2203	4300	6503	SO:0001583	missense	389320							g.chr5:125967461C>G																												ENST00000357147.3:c.35C>G	5.37:g.125967461C>G	ENSP00000349669:p.Pro12Arg						p.P12R	NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN			1	48	+			12						Missense_Mutation	SNP	ENST00000357147.3	37	c.35C>G	CCDS4139.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698611	0.48307	.	.	ENSG00000196900	ENST00000357147	.	.	.	3.96	3.96	0.45880	.	0.000000	0.43260	D	0.000581	T	0.50939	0.1645	L	0.32530	0.975	0.19300	N	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.35822	-0.9773	9	0.87932	D	0	-15.6	11.7982	0.52112	0.0:1.0:0.0:0.0	.	12	Q6ZNM6	CE048_HUMAN	R	12	.	ENSP00000349669:P12R	P	+	2	0	C5orf48	125995360	0.247000	0.23920	0.182000	0.23118	0.040000	0.13550	2.981000	0.49329	2.495000	0.84180	0.561000	0.74099	CCT		0.378	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1			5	170	0	0	0	0.014758	0	5	170				
EPB41	2035	broad.mit.edu	37	1	29314300	29314300	+	Silent	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:29314300A>G	ENST00000343067.4	+	2	478	c.351A>G	c.(349-351)gaA>gaG	p.E117E	EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000398863.2_Silent_p.E117E|Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000373798.1_Silent_p.E117E|EPB41_ENST00000347529.3_Silent_p.E117E|EPB41_ENST00000373797.1_Silent_p.E117E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Silent_p.E117E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	117					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.E117E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAGAGATAGAATTTGGAACCA	0.423																																						ENST00000343067.4																			1	Substitution - coding silent(1)	p.E117E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(349-351)gaA>gaG		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							126.0	131.0	130.0					1																	29314300		2203	4300	6503	SO:0001819	synonymous_variant	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29314300A>G	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.351A>G	1.37:g.29314300A>G						EPB41_ENST00000398863.2_Silent_p.E117E|EPB41_ENST00000373797.1_Silent_p.E117E|EPB41_ENST00000373798.1_Silent_p.E117E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Silent_p.E117E|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Silent_p.E117E	p.E117E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	2	478	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	117					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Silent	SNP	ENST00000343067.4	37	c.351A>G	CCDS53288.1																																																																																				0.423	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		8	286	0	0	0	0.003080	0	8	286				
ASXL1	171023	broad.mit.edu	37	20	31023728	31023728	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr20:31023728G>A	ENST00000375687.4	+	13	3637	c.3213G>A	c.(3211-3213)gcG>gcA	p.A1071A	ASXL1_ENST00000306058.5_Silent_p.A1066A	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1071					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A1071A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAGTATGTGCGGTCCGCCAAA	0.567			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		1	Substitution - coding silent(1)	p.A1071A(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(3211-3213)gcG>gcA		additional sex combs like 1 (Drosophila)							138.0	114.0	122.0					20																	31023728		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023728G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3213G>A	20.37:g.31023728G>A						ASXL1_ENST00000306058.5_Silent_p.A1066A	p.A1071A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	3637	+			1071					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.3213G>A	CCDS13201.1																																																																																				0.567	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		52	137	0	0	0	0.014410	0	52	137				
FAM155A	728215	broad.mit.edu	37	13	107863055	107863055	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:107863055A>G	ENST00000375915.2	-	2	1102	c.964T>C	c.(964-966)Ttt>Ctt	p.F322L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	322						integral component of membrane (GO:0016021)		p.F322L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTGCAGTTAAACTGTGTGACT	0.408											OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375915.2																			1	Substitution - Missense(1)	p.F322L(1)	prostate(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(964-966)Ttt>Ctt		family with sequence similarity 155, member A							100.0	95.0	97.0					13																	107863055		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:107863055A>G	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.964T>C	13.37:g.107863055A>G	ENSP00000365080:p.Phe322Leu		OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1407		p.F322L	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			2	1102	-			322					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.964T>C	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	A	9.075	0.997927	0.19043	.	.	ENSG00000204442	ENST00000375915	T	0.10668	2.85	5.86	3.48	0.39840	.	0.532999	0.21098	N	0.080213	T	0.04363	0.0120	N	0.04508	-0.205	0.32090	N	0.591964	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	10	0.11485	T	0.65	.	8.6927	0.34275	0.8436:0.0:0.1564:0.0	.	322	B1AL88	F155A_HUMAN	L	322	ENSP00000365080:F322L	ENSP00000365080:F322L	F	-	1	0	FAM155A	106661056	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	2.002000	0.40835	0.489000	0.27749	0.528000	0.53228	TTT		0.408	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		22	102	0	0	0	0.018920	0	22	102				
RWDD4	201965	broad.mit.edu	37	4	184567682	184567682	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:184567682C>G	ENST00000326397.5	-	6	762	c.490G>C	c.(490-492)Gga>Cga	p.G164R	RWDD4_ENST00000512740.1_Missense_Mutation_p.G101R|RWDD4_ENST00000510968.1_Missense_Mutation_p.G69R|RWDD4_ENST00000327570.9_Missense_Mutation_p.G164R	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	164								p.G164R(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						GGAAGTTCTCCTTTGTGATCT	0.289																																						ENST00000326397.5																			1	Substitution - Missense(1)	p.G164R(1)	prostate(1)	large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						c.(490-492)Gga>Cga		RWD domain containing 4							59.0	67.0	64.0					4																	184567682		2198	4290	6488	SO:0001583	missense	201965							g.chr4:184567682C>G	BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"""family with sequence similarity 28, member A"", ""RWD domain containing 4A"""	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.490G>C	4.37:g.184567682C>G	ENSP00000388920:p.Gly164Arg					RWDD4_ENST00000512740.1_Missense_Mutation_p.G101R|RWDD4_ENST00000510968.1_Missense_Mutation_p.G69R|RWDD4_ENST00000327570.9_Missense_Mutation_p.G164R	p.G164R	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN			6	762	-			164					B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Missense_Mutation	SNP	ENST00000326397.5	37	c.490G>C	CCDS34111.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463466	0.84425	.	.	ENSG00000182552	ENST00000326397;ENST00000327570;ENST00000510968;ENST00000512740	T;T;T;T	0.57436	0.56;0.55;0.4;0.4	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.77356	0.4118	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81145	-0.1066	10	0.59425	D	0.04	-15.3016	18.7379	0.91763	0.0:1.0:0.0:0.0	.	164	Q6NW29	RWDD4_HUMAN	R	164;164;69;101	ENSP00000388920:G164R;ENSP00000332177:G164R;ENSP00000426329:G69R;ENSP00000423598:G101R	ENSP00000388920:G164R	G	-	1	0	RWDD4	184804676	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.055000	0.76656	2.421000	0.82119	0.561000	0.74099	GGA		0.289	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361499.2	NM_152682		8	254	0	0	0	0.004482	0	8	254				
UBTF	7343	broad.mit.edu	37	17	42293127	42293127	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:42293127G>A	ENST00000302904.4	-	5	861	c.369C>T	c.(367-369)ttC>ttT	p.F123F	UBTF_ENST00000343638.5_Silent_p.F123F|UBTF_ENST00000533177.1_Silent_p.F123F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Silent_p.F123F|UBTF_ENST00000529383.1_Silent_p.F123F|UBTF_ENST00000527034.1_Silent_p.F123F|UBTF_ENST00000393606.3_Silent_p.F123F|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000436088.1_Silent_p.F123F			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	123					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.F123F(1)|p.F123delF(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTTCTCCATGAAGAAGCGGA	0.493																																						ENST00000302904.4																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.F123F(1)|p.F123delF(1)	prostate(1)|central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(367-369)ttC>ttT		upstream binding transcription factor, RNA polymerase I							93.0	98.0	96.0					17																	42293127		2203	4300	6503	SO:0001819	synonymous_variant	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42293127G>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.369C>T	17.37:g.42293127G>A						UBTF_ENST00000527034.1_Silent_p.F123F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Silent_p.F123F|UBTF_ENST00000343638.5_Silent_p.F123F|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000526094.1_Silent_p.F123F|UBTF_ENST00000436088.1_Silent_p.F123F|UBTF_ENST00000393606.3_Silent_p.F123F|UBTF_ENST00000533177.1_Silent_p.F123F	p.F123F			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	861	-		Breast(137;0.00765)|Prostate(33;0.0181)	123					A8K6R8	Silent	SNP	ENST00000302904.4	37	c.369C>T	CCDS11480.1																																																																																				0.493	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		51	138	0	0	0	0.014410	0	51	138				
LPHN3	23284	broad.mit.edu	37	4	62813888	62813888	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:62813888G>T	ENST00000514591.1	+	16	2824	c.2495G>T	c.(2494-2496)tGg>tTg	p.W832L	LPHN3_ENST00000506720.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506746.1_Missense_Mutation_p.W900L|LPHN3_ENST00000545650.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507164.1_Missense_Mutation_p.W900L|LPHN3_ENST00000509896.1_Missense_Mutation_p.W900L|LPHN3_ENST00000508946.1_Missense_Mutation_p.W832L|LPHN3_ENST00000508693.1_Missense_Mutation_p.W900L|LPHN3_ENST00000507625.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506700.1_Missense_Mutation_p.W832L|LPHN3_ENST00000512091.2_Missense_Mutation_p.W832L|LPHN3_ENST00000514996.1_Missense_Mutation_p.W832L|LPHN3_ENST00000504896.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514157.1_Missense_Mutation_p.W832L|LPHN3_ENST00000511324.1_Missense_Mutation_p.W900L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	819	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.W832L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAGGTTATTGGTCAACACAA	0.403																																						ENST00000512091.1																			3	Substitution - Missense(3)	p.W832L(3)	prostate(3)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2494-2496)tGg>tTg		latrophilin 3							97.0	87.0	90.0					4																	62813888		1894	4116	6010	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813888G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2495G>T	4.37:g.62813888G>T	ENSP00000422533:p.Trp832Leu					LPHN3_ENST00000511324.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514591.1_Missense_Mutation_p.W832L|LPHN3_ENST00000508693.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514996.1_Missense_Mutation_p.W832L|LPHN3_ENST00000506720.1_Missense_Mutation_p.W900L|LPHN3_ENST00000508946.1_Missense_Mutation_p.W832L|LPHN3_ENST00000545650.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514157.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507625.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506700.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507164.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506746.1_Missense_Mutation_p.W900L|LPHN3_ENST00000509896.1_Missense_Mutation_p.W900L|LPHN3_ENST00000504896.1_Missense_Mutation_p.W832L	p.W832L			Q9HAR2	LPHN3_HUMAN			16	3242	+			819			GPS.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2495G>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.097063|5.097063	0.94197|0.94197	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.92595	.|-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	5.98|5.98	5.98|5.98	0.97165|0.97165	.|GPS domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98036|0.98036	0.9353|0.9353	H|H	0.98314|0.98314	4.2|4.2	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.998	.|D;D;D	.|0.83275	.|0.996;0.996;0.994	D|D	0.98633|0.98633	1.0672|1.0672	5|10	.|0.87932	.|D	.|0	.|.	20.5212|20.5212	0.99222|0.99222	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|832;819;832	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	F|L	289|832;832;900;900;832;832;819;832;900;900;900;832;832;832;900;900;832	.|ENSP00000423388:W832L;ENSP00000422533:W832L;ENSP00000423787:W900L;ENSP00000425033:W900L;ENSP00000424120:W832L;ENSP00000439831:W832L;ENSP00000421476:W900L;ENSP00000424030:W900L;ENSP00000421372:W900L;ENSP00000425201:W832L;ENSP00000423434:W832L;ENSP00000421627:W832L;ENSP00000420931:W900L;ENSP00000425884:W900L;ENSP00000424258:W832L	.|ENSP00000280009:W832L	L|W	+|+	3|2	2|0	LPHN3|LPHN3	62496483|62496483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.865000|9.865000	0.99609|0.99609	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	TTG|TGG		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			14	57	1	0	9.05144e-12	0.016723	1.06488e-11	14	57				
NIPA2	81614	broad.mit.edu	37	15	23006760	23006760	+	Missense_Mutation	SNP	T	T	A	rs528251144		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:23006760T>A	ENST00000337451.3	-	8	1156	c.544A>T	c.(544-546)Ata>Tta	p.I182L	NIPA2_ENST00000359727.4_Missense_Mutation_p.I163L|NIPA2_ENST00000539711.2_Missense_Mutation_p.I163L|NIPA2_ENST00000398013.3_Missense_Mutation_p.I182L|NIPA2_ENST00000398014.2_Missense_Mutation_p.I182L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	182						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.I163L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CAGATTGTTATGTACACAAGA	0.502																																						ENST00000337451.3																			1	Substitution - Missense(1)	p.I163L(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(544-546)Ata>Tta		non imprinted in Prader-Willi/Angelman syndrome 2							74.0	65.0	68.0					15																	23006760		2203	4300	6503	SO:0001583	missense	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006760T>A	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.544A>T	15.37:g.23006760T>A	ENSP00000337618:p.Ile182Leu					NIPA2_ENST00000398014.2_Missense_Mutation_p.I182L|NIPA2_ENST00000539711.2_Missense_Mutation_p.I163L|NIPA2_ENST00000398013.3_Missense_Mutation_p.I182L|NIPA2_ENST00000359727.4_Missense_Mutation_p.I163L	p.I182L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	8	1156	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	182					F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	c.544A>T	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.813963	0.90790	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.76	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.90848	0.7125	L	0.48935	1.535	0.80722	D	1	B;P	0.44429	0.264;0.835	B;P	0.49477	0.263;0.612	D	0.90572	0.4523	10	0.44086	T	0.13	-15.5158	16.1778	0.81874	0.0:0.0:0.0:1.0	.	163;182	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	L	182;182;163;182;163	ENSP00000337618:I182L;ENSP00000381096:I182L;ENSP00000352762:I163L;ENSP00000437746:I182L	ENSP00000337618:I182L	I	-	1	0	NIPA2	20558201	1.000000	0.71417	0.887000	0.34795	0.961000	0.63080	6.180000	0.71981	2.279000	0.76181	0.533000	0.62120	ATA		0.502	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		3	74	0	0	0	0.004672	0	3	74				
CCDC150	284992	broad.mit.edu	37	2	197583282	197583282	+	Missense_Mutation	SNP	G	G	A	rs373323546		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr2:197583282G>A	ENST00000389175.4	+	18	2057	c.1922G>A	c.(1921-1923)cGt>cAt	p.R641H	CCDC150_ENST00000272831.7_Missense_Mutation_p.R288H|CCDC150_ENST00000409270.1_Missense_Mutation_p.R128H	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	641								p.R641H(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGAAGTGTCGTAATGCGGCC	0.428																																						ENST00000389175.4																			1	Substitution - Missense(1)	p.R641H(1)	prostate(1)	breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1921-1923)cGt>cAt		coiled-coil domain containing 150		G	HIS/ARG	0,3862		0,0,1931	86.0	87.0	87.0		1922	3.8	0.6	2		87	1,8255		0,1,4127	no	missense	CCDC150	NM_001080539.1	29	0,1,6058	AA,AG,GG		0.0121,0.0,0.0083	benign	641/1102	197583282	1,12117	1931	4128	6059	SO:0001583	missense	284992							g.chr2:197583282G>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1922G>A	2.37:g.197583282G>A	ENSP00000373827:p.Arg641His					CCDC150_ENST00000409270.1_Missense_Mutation_p.R128H|CCDC150_ENST00000272831.7_Missense_Mutation_p.R288H	p.R641H	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			18	2057	+			641					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.1922G>A	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	6.113	0.389009	0.11581	0.0	1.21E-4	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T;T;T	0.50548	0.74;0.74;0.74	4.7	3.83	0.44106	.	0.356548	0.26265	N	0.025372	T	0.40522	0.1120	M	0.62723	1.935	0.50467	D	0.999872	B;B;B	0.19706	0.003;0.023;0.038	B;B;B	0.17098	0.005;0.012;0.017	T	0.19418	-1.0306	10	0.15499	T	0.54	-4.9834	9.1521	0.36969	0.1:0.0:0.9:0.0	.	58;288;641	B4DWS7;B4DZ03;Q8NCX0	.;.;CC150_HUMAN	H	288;641;128	ENSP00000272831:R288H;ENSP00000373827:R641H;ENSP00000387257:R128H	ENSP00000272831:R288H	R	+	2	0	CCDC150	197291527	0.034000	0.19679	0.574000	0.28523	0.003000	0.03518	0.737000	0.26144	1.346000	0.45694	-0.143000	0.13931	CGT		0.428	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		17	54	0	0	0	0.004007	0	17	54				
MFAP3L	9848	broad.mit.edu	37	4	170913387	170913387	+	Silent	SNP	C	C	T	rs141578578		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:170913387C>T	ENST00000361618.3	-	3	679	c.372G>A	c.(370-372)acG>acA	p.T124T	MFAP3L_ENST00000393704.3_Silent_p.T21T|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	124	Ig-like C2-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T124T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		AAGCCACACACGTGTATTTAC	0.512																																						ENST00000361618.3																			1	Substitution - coding silent(1)	p.T124T(1)	prostate(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(370-372)acG>acA		microfibrillar-associated protein 3-like							125.0	108.0	114.0					4																	170913387		2203	4300	6503	SO:0001819	synonymous_variant	9848					integral to membrane|plasma membrane		g.chr4:170913387C>T	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.372G>A	4.37:g.170913387C>T						MFAP3L_ENST00000393704.3_Silent_p.T21T|RP11-6E9.4_ENST00000508955.1_RNA	p.T124T	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	679	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	124			Ig-like C2-type.		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	ENST00000361618.3	37	c.372G>A	CCDS34103.1																																																																																				0.512	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647		7	268	0	0	0	0.001984	0	7	268				
MAN1A1	4121	broad.mit.edu	37	6	119510998	119510998	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:119510998G>A	ENST00000368468.3	-	10	1818	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	459					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.I459I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCCACTCTGCGATATAAGTTA	0.498																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			2	Substitution - coding silent(2)	p.I459I(2)	large_intestine(1)|prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(1375-1377)atC>atT		mannosidase, alpha, class 1A, member 1							73.0	68.0	70.0					6																	119510998		2203	4300	6503	SO:0001819	synonymous_variant	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119510998G>A	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1377C>T	6.37:g.119510998G>A							p.I459I	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	10	1818	-		all_epithelial(87;0.173)	459					E7EU32|Q6P052|Q9NU44|Q9UJI3	Silent	SNP	ENST00000368468.3	37	c.1377C>T	CCDS5122.1																																																																																				0.498	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		29	86	0	0	0	0.010818	0	29	86				
B3GALNT1	8706	broad.mit.edu	37	3	160803633	160803633	+	Missense_Mutation	SNP	G	G	A	rs143966469		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr3:160803633G>A	ENST00000392781.2	-	8	1657	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	B3GALNT1_ENST00000473285.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.R304C|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.R304C|B3GALNT1_ENST00000417187.1_Missense_Mutation_p.R64C	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	304					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R304C(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			GCAATCACACGTCTCAGTTGA	0.378																																						ENST00000392781.2																			1	Substitution - Missense(1)	p.R304C(1)	prostate(1)	breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(910-912)Cgt>Tgt		beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	60.0	57.0	58.0		910,910,910,910,910	5.9	1.0	3	dbSNP_134	58	1,8599		0,1,4299	no	missense,missense,missense,missense,missense	B3GALNT1	NM_001038628.1,NM_003781.3,NM_033167.2,NM_033168.2,NM_033169.2	180,180,180,180,180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	304/332,304/332,304/332,304/332,304/332	160803633	2,13004	2203	4300	6503	SO:0001583	missense	8706				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr3:160803633G>A	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.910C>T	3.37:g.160803633G>A	ENSP00000376532:p.Arg304Cys					B3GALNT1_ENST00000488170.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.R304C|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.R304C|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000417187.1_Missense_Mutation_p.R64C	p.R304C	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		8	1657	-			304					D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	c.910C>T	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056291	0.36277	2.27E-4	1.16E-4	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000417187;ENST00000488170	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.94	5.94	0.96194	.	0.167110	0.43416	D	0.000577	D	0.91720	0.7382	L	0.43152	1.355	0.51482	D	0.999926	D;D	0.89917	1.0;0.993	D;B	0.70227	0.968;0.446	D	0.91942	0.5564	10	0.87932	D	0	.	14.2145	0.65783	0.0:0.0:0.8509:0.1491	.	64;304	E7EVF0;O75752	.;B3GL1_HUMAN	C	304;304;304;304;304;64;304	ENSP00000323479:R304C;ENSP00000376530:R304C;ENSP00000376531:R304C;ENSP00000376532:R304C;ENSP00000418226:R304C;ENSP00000420163:R304C	ENSP00000323479:R304C	R	-	1	0	B3GALNT1	162286327	0.311000	0.24536	1.000000	0.80357	0.948000	0.59901	2.796000	0.47869	2.816000	0.96949	0.561000	0.74099	CGT		0.378	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		20	72	0	0	0	0.010504	0	20	72				
WARS2	10352	broad.mit.edu	37	1	119576827	119576827	+	Silent	SNP	G	G	A	rs199831668		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:119576827G>A	ENST00000235521.4	-	5	551	c.525C>T	c.(523-525)caC>caT	p.H175H	WARS2_ENST00000537870.1_Silent_p.H81H|WARS2_ENST00000369426.5_Silent_p.H175H	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	175					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.H175H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAACAGGAACGTGTGTGGACC	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		18960	0.0		0.001	False		,,,				2504	0.0					ENST00000369426.5																			2	Substitution - coding silent(2)	p.H175H(2)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(523-525)caC>caT		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)	G	,	0,4406		0,0,2203	116.0	108.0	111.0		525,525	4.8	1.0	1		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WARS2	NM_015836.3,NM_201263.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	175/361,175/221	119576827	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119576827G>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.525C>T	1.37:g.119576827G>A						WARS2_ENST00000537870.1_Silent_p.H81H|WARS2_ENST00000235521.4_Silent_p.H175H	p.H175H			Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	5	528	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	175					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Silent	SNP	ENST00000235521.4	37	c.525C>T	CCDS900.1																																																																																				0.433	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		8	140	0	0	0	0.003080	0	8	140				
APAF1	317	broad.mit.edu	37	12	99043447	99043447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:99043447C>T	ENST00000551964.1	+	4	1247	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	APAF1_ENST00000333991.1_Missense_Mutation_p.H171Y|APAF1_ENST00000357310.1_Missense_Mutation_p.H171Y|APAF1_ENST00000339433.3_Missense_Mutation_p.H171Y|APAF1_ENST00000549007.1_Missense_Mutation_p.H171Y|APAF1_ENST00000547045.1_Missense_Mutation_p.H171Y|APAF1_ENST00000550527.1_Missense_Mutation_p.H160Y|APAF1_ENST00000552268.1_Missense_Mutation_p.H171Y|APAF1_ENST00000359972.2_Missense_Mutation_p.H160Y	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	171	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.H171Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGTTAGAGATCATTCCCTTTT	0.383																																						ENST00000357310.1																			1	Substitution - Missense(1)	p.H171Y(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(511-513)Cat>Tat		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						84.0	77.0	79.0					12																	99043447		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99043447C>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.511C>T	12.37:g.99043447C>T	ENSP00000448165:p.His171Tyr					APAF1_ENST00000550527.1_Missense_Mutation_p.H160Y|APAF1_ENST00000552268.1_Missense_Mutation_p.H171Y|APAF1_ENST00000551964.1_Missense_Mutation_p.H171Y|APAF1_ENST00000359972.2_Missense_Mutation_p.H160Y|APAF1_ENST00000339433.3_Missense_Mutation_p.H171Y|APAF1_ENST00000333991.1_Missense_Mutation_p.H171Y|APAF1_ENST00000547045.1_Missense_Mutation_p.H171Y|APAF1_ENST00000549007.1_Missense_Mutation_p.H171Y	p.H171Y	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			4	1088	+			171			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.511C>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017739	0.75161	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.55	4.65	0.58169	NB-ARC (1);	0.134889	0.64402	D	0.000002	T	0.81408	0.4816	L	0.53249	1.67	0.48830	D	0.999718	D;D;D;D;P	0.71674	0.984;0.998;0.996;0.986;0.926	P;D;P;P;P	0.64042	0.795;0.921;0.906;0.674;0.795	T	0.78183	-0.2303	10	0.02654	T	1	-8.4611	15.7191	0.77694	0.1381:0.8619:0.0:0.0	.	171;171;160;171;160	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	Y	171;160;171;171;171;171;160;171;171	ENSP00000448165:H171Y;ENSP00000353059:H160Y;ENSP00000349862:H171Y;ENSP00000341830:H171Y;ENSP00000334558:H171Y;ENSP00000448826:H171Y;ENSP00000448449:H160Y;ENSP00000449791:H171Y;ENSP00000448161:H171Y	ENSP00000334558:H171Y	H	+	1	0	APAF1	97567578	1.000000	0.71417	0.973000	0.42090	0.867000	0.49689	5.760000	0.68793	1.324000	0.45282	-0.181000	0.13052	CAT		0.383	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		5	58	0	0	0	0.014758	0	5	58				
TUBA3C	7278	broad.mit.edu	37	13	19748209	19748209	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:19748209C>T	ENST00000400113.3	-	5	1251	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	383					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A383T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCGCGATGGCCGTGGTGTTG	0.637																																						ENST00000400113.3																			1	Substitution - Missense(1)	p.A383T(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(1147-1149)Gcc>Acc		tubulin, alpha 3c							92.0	82.0	86.0					13																	19748209		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748209C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1147G>A	13.37:g.19748209C>T	ENSP00000382982:p.Ala383Thr						p.A383T	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1251	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	383					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1147G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	15.01	2.705932	0.48412	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84298	-1.83	1.22	1.22	0.21188	.	0.000000	0.46758	U	0.000267	D	0.86556	0.5961	.	.	.	0.44241	D	0.997085	.	.	.	.	.	.	D	0.85869	0.1415	7	0.87932	D	0	.	8.3643	0.32378	0.0:1.0:0.0:0.0	.	.	.	.	T	383	ENSP00000382982:A383T	ENSP00000354037:A383T	A	-	1	0	TUBA3C	18646209	1.000000	0.71417	0.930000	0.37139	0.923000	0.55619	6.342000	0.72982	0.982000	0.38575	0.194000	0.17425	GCC		0.637	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		42	85	0	0	0	0.008740	0	42	85				
KCNT2	343450	broad.mit.edu	37	1	196459055	196459055	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:196459055C>T	ENST00000294725.9	-	3	1103	c.188G>A	c.(187-189)cGc>cAc	p.R63H	KCNT2_ENST00000367431.4_Missense_Mutation_p.R63H|KCNT2_ENST00000367433.5_Missense_Mutation_p.R63H|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.R63H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	63					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R63P(1)|p.R63H(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATTGAACAGGCGTATCCTTAG	0.289																																						ENST00000367433.5																			2	Substitution - Missense(2)	p.R63P(1)|p.R63H(1)	prostate(1)|lung(1)	NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(187-189)cGc>cAc		potassium channel, subfamily T, member 2							90.0	97.0	94.0					1																	196459055		2203	4291	6494	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196459055C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.188G>A	1.37:g.196459055C>T	ENSP00000294725:p.Arg63His					KCNT2_ENST00000367431.4_Missense_Mutation_p.R63H|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R63H	p.R63H			Q6UVM3	KCNT2_HUMAN			3	289	-			63					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.188G>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785763	0.90282	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.21361	2.01;2.04;2.27	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000007	T	0.51787	0.1695	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.79784	0.978;0.993;0.954;0.978	T	0.54111	-0.8342	10	0.51188	T	0.08	-6.2909	17.1485	0.86772	0.0:1.0:0.0:0.0	.	63;63;63;63	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	H	63	ENSP00000356403:R63H;ENSP00000356401:R63H;ENSP00000294725:R63H	ENSP00000294725:R63H	R	-	2	0	KCNT2	194725678	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.744000	0.74854	2.723000	0.93209	0.655000	0.94253	CGC		0.289	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		51	173	0	0	0	0.014410	0	51	173				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000433992.1																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA								0	475	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			4	22	0	0	0	0.009096	0	4	22				
RAPGEF6	51735	broad.mit.edu	37	5	130766663	130766663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:130766663G>A	ENST00000509018.1	-	26	4559	c.4354C>T	c.(4354-4356)Cag>Tag	p.Q1452*	RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.Q1465*|CTC-432M15.3_ENST00000514667.1_Nonsense_Mutation_p.Q1502*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.Q1460*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.Q1460*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1452			Q -> R (in dbSNP:rs1291602). {ECO:0000269|PubMed:11524421, ECO:0000269|PubMed:12581858, ECO:0000269|Ref.2}.		positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.Q1452*(1)|p.Q1465*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATACTCTCTGTTTAACTGTC	0.463																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			2	Substitution - Nonsense(2)	p.Q1452*(1)|p.Q1465*(1)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4354-4356)Cag>Tag		Rap guanine nucleotide exchange factor (GEF) 6							145.0	151.0	149.0					5																	130766663		2203	4300	6503	SO:0001587	stop_gained	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130766663G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4354C>T	5.37:g.130766663G>A	ENSP00000421684:p.Gln1452*					RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.Q1465*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.Q1460*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.Q1460*|FNIP1_ENST00000514667.1_Nonsense_Mutation_p.Q1502*	p.Q1452*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	26	4559	-			1452		Q -> R (in dbSNP:rs1291602).			A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Nonsense_Mutation	SNP	ENST00000509018.1	37	c.4354C>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	42	9.804233	0.99268	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	.	.	.	5.22	2.19	0.27852	.	0.112278	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	14.5329	0.67939	0.0:0.0:0.6233:0.3767	.	.	.	.	X	1452;1465;1460;1460;1465;1502	.	ENSP00000426948:Q1502X	Q	-	1	0	RAPGEF6;FNIP1	130794562	1.000000	0.71417	0.995000	0.50966	0.850000	0.48378	4.611000	0.61162	0.654000	0.30846	0.655000	0.94253	CAG		0.463	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		73	268	0	0	0	0.014410	0	73	268				
SIPA1L1	26037	broad.mit.edu	37	14	72152099	72152099	+	Missense_Mutation	SNP	G	G	A	rs141106111		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr14:72152099G>A	ENST00000555818.1	+	10	3473	c.3125G>A	c.(3124-3126)cGc>cAc	p.R1042H	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1042H|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R517H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1042H	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1042	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R1042H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAACCTACCGCATGCCAGTG	0.448																																						ENST00000555818.1																			1	Substitution - Missense(1)	p.R1042H(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3124-3126)cGc>cAc		signal-induced proliferation-associated 1 like 1							176.0	173.0	174.0					14																	72152099		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72152099G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3125G>A	14.37:g.72152099G>A	ENSP00000450832:p.Arg1042His					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1042H|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R517H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1042H	p.R1042H	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	10	3473	+			1042			PDZ.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3125G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639098	0.67244	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.38	5.38	0.77491	PDZ/DHR/GLGF (1);	0.149124	0.64402	D	0.000009	T	0.68137	0.2968	N	0.17674	0.51	0.80722	D	1	B;B;B;B;D	0.76494	0.014;0.001;0.016;0.06;0.999	B;B;B;B;D	0.73380	0.031;0.001;0.009;0.019;0.98	T	0.68194	-0.5473	10	0.38643	T	0.18	-20.2921	19.4911	0.95050	0.0:0.0:1.0:0.0	.	517;1042;517;1042;1042	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	H	1042;1042;1042;517	ENSP00000370630:R1042H;ENSP00000450832:R1042H;ENSP00000351352:R1042H;ENSP00000440682:R517H	ENSP00000351352:R1042H	R	+	2	0	SIPA1L1	71221852	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.949000	0.75971	2.670000	0.90874	0.561000	0.74099	CGC		0.448	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		9	364	0	0	0	0.006214	0	9	364				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	17	0	0	0	0.014758	0	3	17				
PLCG2	5336	broad.mit.edu	37	16	81944188	81944188	+	Silent	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr16:81944188C>T	ENST00000359376.3	+	18	2011	c.1797C>T	c.(1795-1797)taC>taT	p.Y599Y		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	599	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.Y599Y(3)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCCTGAAATACTACTTGACTG	0.647																																						ENST00000359376.3																			3	Substitution - coding silent(3)	p.Y599Y(3)	prostate(3)	NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1795-1797)taC>taT		phospholipase C, gamma 2 (phosphatidylinositol-specific)							147.0	163.0	157.0					16																	81944188		2149	4257	6406	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81944188C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1797C>T	16.37:g.81944188C>T							p.Y599Y	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			18	2011	+			599			SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1797C>T	CCDS42204.1																																																																																				0.647	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			6	230	0	0	0	0.001168	0	6	230				
IRX1	79192	broad.mit.edu	37	5	3599606	3599606	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:3599606C>T	ENST00000302006.3	+	2	596	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	182					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R182C(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGCCAACGCGCGCCGGCGCCT	0.632																																						ENST00000302006.3																			1	Substitution - Missense(1)	p.R182C(1)	prostate(1)	biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(544-546)Cgc>Tgc		iroquois homeobox 1							111.0	93.0	99.0					5																	3599606		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599606C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.544C>T	5.37:g.3599606C>T	ENSP00000305244:p.Arg182Cys					CTD-2012M11.3_ENST00000559410.1_RNA	p.R182C	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	596	+			182					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.544C>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847673	0.71603	.	.	ENSG00000170549	ENST00000302006	D	0.99841	-7.09	4.71	4.71	0.59529	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.052249	0.64402	D	0.000001	D	0.99900	0.9952	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95971	0.8970	10	0.87932	D	0	.	17.2922	0.87160	0.0:1.0:0.0:0.0	.	182	P78414	IRX1_HUMAN	C	182	ENSP00000305244:R182C	ENSP00000305244:R182C	R	+	1	0	IRX1	3652606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.994000	0.49433	2.125000	0.65367	0.655000	0.94253	CGC		0.632	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		22	124	0	0	0	0.021523	0	22	124				
ARID1A	8289	broad.mit.edu	37	1	27106761	27106761	+	Silent	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:27106761A>G	ENST00000324856.7	+	20	6743	c.6372A>G	c.(6370-6372)aaA>aaG	p.K2124K	ARID1A_ENST00000374152.2_Silent_p.K1741K|ARID1A_ENST00000540690.1_Silent_p.K452K|ARID1A_ENST00000457599.2_Silent_p.K1907K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2124					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.K2124K(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCTCAGCAAACTCAGCATCC	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - coding silent(1)	p.K2124K(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(6370-6372)aaA>aaG		AT rich interactive domain 1A (SWI-like)							107.0	104.0	105.0					1																	27106761		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106761A>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6372A>G	1.37:g.27106761A>G						ARID1A_ENST00000457599.2_Silent_p.K1907K|ARID1A_ENST00000540690.1_Silent_p.K452K|ARID1A_ENST00000374152.2_Silent_p.K1741K	p.K2124K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6743	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2124					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.6372A>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	1.184	-0.637316	0.03557	.	.	ENSG00000117713	ENST00000430799	.	.	.	4.97	2.57	0.30868	.	.	.	.	.	T	0.53753	0.1816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43605	-0.9381	4	.	.	.	-5.4502	5.5732	0.17208	0.7063:0.1453:0.1484:0.0	.	.	.	.	A	1021	.	.	T	+	1	0	ARID1A	26979348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.629000	0.37071	0.437000	0.26423	-0.386000	0.06593	ACT		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		37	141	0	0	0	0.007835	0	37	141				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	52	0	0	0	0.014758	0	5	52				
SLC16A6	9120	broad.mit.edu	37	17	66267452	66267452	+	Silent	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:66267452T>C	ENST00000327268.4	-	6	1013	c.849A>G	c.(847-849)ctA>ctG	p.L283L	SLC16A6_ENST00000580666.1_Silent_p.L283L|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	283					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.L283L(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGAAGTCTAATAGCGGGGCTT	0.463																																						ENST00000327268.4																			1	Substitution - coding silent(1)	p.L283L(1)	prostate(1)	large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(847-849)ctA>ctG		solute carrier family 16, member 6	Pyruvic acid(DB00119)						55.0	57.0	56.0					17																	66267452		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267452T>C	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.849A>G	17.37:g.66267452T>C						ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.L283L	p.L283L	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1013	-	all_cancers(12;1.24e-09)		283					Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.849A>G	CCDS11675.1																																																																																				0.463	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		3	123	0	0	0	0.004672	0	3	123				
ACTC1	70	broad.mit.edu	37	15	35086889	35086889	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:35086889G>A	ENST00000290378.4	-	2	776	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	41					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.R41W(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACCTGGTGCCGCGGGCGGCCC	0.672																																						ENST00000290378.4																			1	Substitution - Missense(1)	p.R41W(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(121-123)Cgg>Tgg		actin, alpha, cardiac muscle 1							18.0	21.0	20.0					15																	35086889		2179	4268	6447	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35086889G>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.121C>T	15.37:g.35086889G>A	ENSP00000290378:p.Arg41Trp					RP11-814P5.1_ENST00000503496.1_RNA	p.R41W	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	776	-		all_lung(180;2.3e-08)	41					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.121C>T	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913979	0.72983	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.92699	-3.09	4.21	4.21	0.49690	.	0.000000	0.53938	U	0.000045	D	0.97015	0.9025	H	0.97291	3.975	0.58432	D	0.999999	D	0.65815	0.995	D	0.63957	0.92	D	0.97734	1.0204	10	0.87932	D	0	.	12.1272	0.53922	0.0:0.0:0.7815:0.2185	.	41	P68032	ACTC_HUMAN	W	41	ENSP00000290378:R41W	ENSP00000290378:R41W	R	-	1	2	ACTC1	32874181	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	3.054000	0.49908	2.064000	0.61679	0.561000	0.74099	CGG		0.672	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		9	47	0	0	0	0.010729	0	9	47				
HSPG2	3339	broad.mit.edu	37	1	22173919	22173919	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:22173919C>T	ENST00000374695.3	-	62	8171	c.8092G>A	c.(8092-8094)Gcc>Acc	p.A2698T	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2698	Ig-like C2-type 12.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.A2698T(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TTGTTGTTGGCCCGGCACACA	0.642																																						ENST00000374695.3																			1	Substitution - Missense(1)	p.A2698T(1)	prostate(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(8092-8094)Gcc>Acc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						109.0	105.0	106.0					1																	22173919		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22173919C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8092G>A	1.37:g.22173919C>T	ENSP00000363827:p.Ala2698Thr					HSPG2_ENST00000430507.1_3'UTR	p.A2698T	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	62	8171	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2698			Ig-like C2-type 12.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8092G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826468	0.90955	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.76448	-1.02;-1.02	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39615	N	0.001303	D	0.88596	0.6479	M	0.88105	2.93	0.43126	D	0.994855	P;D	0.53619	0.597;0.961	P;P	0.59115	0.587;0.852	D	0.90653	0.4584	10	0.72032	D	0.01	.	16.9253	0.86174	0.0:1.0:0.0:0.0	.	638;2698	Q59EG0;P98160	.;PGBM_HUMAN	T	2698;113	ENSP00000363827:A2698T;ENSP00000396310:A113T	ENSP00000363827:A2698T	A	-	1	0	HSPG2	22046506	0.992000	0.36948	0.998000	0.56505	0.999000	0.98932	4.998000	0.63927	2.588000	0.87417	0.650000	0.86243	GCC		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	118	0	0	0	0.009096	0	4	118				
NSD1	64324	broad.mit.edu	37	5	176636871	176636871	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:176636871G>A	ENST00000439151.2	+	5	1516	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	NSD1_ENST00000361032.4_Missense_Mutation_p.E388K|NSD1_ENST00000354179.4_Missense_Mutation_p.E222K|NSD1_ENST00000347982.4_Missense_Mutation_p.E222K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	491					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E491K(3)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGATGAGAAGGAAAAGCCTTG	0.408			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		3	Substitution - Missense(3)	p.E491K(3)	prostate(3)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(1471-1473)Gaa>Aaa		nuclear receptor binding SET domain protein 1							84.0	85.0	85.0					5																	176636871		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176636871G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1471G>A	5.37:g.176636871G>A	ENSP00000395929:p.Glu491Lys	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Missense_Mutation_p.E222K|NSD1_ENST00000347982.4_Missense_Mutation_p.E222K|NSD1_ENST00000361032.4_Missense_Mutation_p.E388K	p.E491K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	1516	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	491					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.1471G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236323	0.79800	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93076	-3.06;-3.06;-3.06;-3.16	5.5	5.5	0.81552	.	0.188772	0.37483	N	0.002072	D	0.91192	0.7225	N	0.19112	0.55	0.33633	D	0.606269	P;P;P	0.51933	0.867;0.949;0.791	P;P;B	0.51615	0.542;0.675;0.34	D	0.92381	0.5913	9	.	.	.	.	17.1785	0.86848	0.0:0.0:1.0:0.0	.	222;388;491	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	K	222;222;491;222;388	ENSP00000346111:E222K;ENSP00000395929:E491K;ENSP00000343209:E222K;ENSP00000354310:E388K	.	E	+	1	0	NSD1	176569477	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.773000	0.62331	2.587000	0.87381	0.591000	0.81541	GAA		0.408	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		29	115	0	0	0	0.007291	0	29	115				
POT1	25913	broad.mit.edu	37	7	124537227	124537227	+	Start_Codon_SNP	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:124537227T>C	ENST00000357628.3	-	5	599	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	POT1_ENST00000461288.1_5'Flank|POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	1					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.M1V(2)|p.M1L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACCAAAGACATTGATTCTGTA	0.303																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			3	Substitution - Missense(3)	p.M1V(2)|p.M1L(1)	prostate(2)|haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(1-3)Atg>Gtg		protection of telomeres 1							60.0	63.0	62.0					7																	124537227		2191	4269	6460	SO:0001582	initiator_codon_variant	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124537227T>C	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1A>G	7.37:g.124537227T>C	ENSP00000350249:p.Met1Val					POT1_ENST00000393329.1_5'UTR	p.M1V	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			5	599	-			1					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Translation_Start_Site	SNP	ENST00000357628.3	37	c.1A>G	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.836564	0.32421	.	.	ENSG00000128513	ENST00000357628;ENST00000446993	T	0.42513	0.97	5.13	3.96	0.45880	.	0.683997	0.13888	N	0.355790	T	0.33323	0.0859	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.29336	-1.0015	9	0.87932	D	0	-29.9186	7.943	0.29969	0.0:0.0979:0.0:0.9021	.	1	Q9NUX5	POTE1_HUMAN	V	1	ENSP00000350249:M1V	ENSP00000350249:M1V	M	-	1	0	POT1	124324463	1.000000	0.71417	0.991000	0.47740	0.947000	0.59692	2.279000	0.43435	2.063000	0.61619	0.533000	0.62120	ATG		0.303	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		Missense_Mutation	22	95	0	0	0	0.014323	0	22	95				
FANCI	55215	broad.mit.edu	37	15	89811688	89811688	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:89811688A>G	ENST00000310775.7	+	10	900	c.814A>G	c.(814-816)Att>Gtt	p.I272V	FANCI_ENST00000300027.8_Missense_Mutation_p.I272V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	272					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.I272V(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGGCACCATTATTCTACACAT	0.413								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			1	Substitution - Missense(1)	p.I272V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(814-816)Att>Gtt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							227.0	199.0	208.0					15																	89811688		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89811688A>G	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.814A>G	15.37:g.89811688A>G	ENSP00000310842:p.Ile272Val					FANCI_ENST00000300027.8_Missense_Mutation_p.I272V	p.I272V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			10	900	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		272					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.814A>G	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.703930	0.48412	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.48201	0.82;0.82;0.82	4.68	4.68	0.58851	.	0.057562	0.64402	D	0.000002	T	0.50309	0.1608	M	0.76002	2.32	0.80722	D	1	B;P;P	0.37525	0.123;0.454;0.598	B;B;B	0.41374	0.084;0.269;0.355	T	0.54125	-0.8340	10	0.49607	T	0.09	-16.2137	9.5302	0.39189	0.9161:0.0:0.0839:0.0	.	272;272;272	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	V	272	ENSP00000300027:I272V;ENSP00000310842:I272V;ENSP00000413249:I272V	ENSP00000300027:I272V	I	+	1	0	FANCI	87612692	1.000000	0.71417	0.887000	0.34795	0.947000	0.59692	5.717000	0.68446	1.741000	0.51731	0.459000	0.35465	ATT		0.413	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		9	358	0	0	0	0.004482	0	9	358				
LIMCH1	22998	broad.mit.edu	37	4	41648713	41648713	+	Missense_Mutation	SNP	C	C	T	rs143733086		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:41648713C>T	ENST00000313860.7	+	12	1522	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	LIMCH1_ENST00000509277.1_Missense_Mutation_p.R324W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R319W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R478W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R875W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R324W|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R336W	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	490					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.R875W(1)|p.R490W(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAAATACCTGCGGCAACAGTC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20033	0.001		0.0	False		,,,				2504	0.0					ENST00000313860.7																			2	Substitution - Missense(2)	p.R875W(1)|p.R490W(1)	prostate(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1468-1470)Cgg>Tgg		LIM and calponin homology domains 1							220.0	224.0	223.0					4																	41648713		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648713C>T	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1468C>T	4.37:g.41648713C>T	ENSP00000316891:p.Arg490Trp					LIMCH1_ENST00000514096.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R324W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R478W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R336W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R324W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R875W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R319W	p.R490W	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			12	1522	+			490					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.1468C>T	CCDS33977.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.78	3.697333	0.68386	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.55930	0.94;1.15;1.1;1.16;0.94;1.16;0.52;0.49;0.52;0.94;0.94;0.53	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.982;0.982;0.987;0.995;0.996;0.997;0.995;0.999;0.997;0.999;0.997	T	0.72384	-0.4310	10	0.87932	D	0	-18.4384	13.7854	0.63105	0.2558:0.7442:0.0:0.0	.	241;324;490;324;336;875;319;478;490;490;490	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	W	319;490;490;490;490;478;875;331;874;331;324;336;324	ENSP00000425222:R319W;ENSP00000424825:R490W;ENSP00000424645:R490W;ENSP00000316891:R490W;ENSP00000427045:R490W;ENSP00000424437:R478W;ENSP00000425631:R875W;ENSP00000421242:R331W;ENSP00000426334:R331W;ENSP00000422864:R324W;ENSP00000379840:R336W;ENSP00000371172:R324W	ENSP00000316891:R490W	R	+	1	2	LIMCH1	41343470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.662000	0.37418	2.675000	0.91044	0.591000	0.81541	CGG		0.498	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		10	408	0	0	0	0.010729	0	10	408				
RP1	6101	broad.mit.edu	37	8	55538481	55538481	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr8:55538481C>T	ENST00000220676.1	+	4	2187	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	680					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.A680V(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGACAGCAAGCAATAAATTCC	0.323																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.A680V(1)	prostate(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2038-2040)gCa>gTa		retinitis pigmentosa 1 (autosomal dominant)							38.0	39.0	39.0					8																	55538481		2202	4299	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538481C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2039C>T	8.37:g.55538481C>T	ENSP00000220676:p.Ala680Val						p.A680V	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2187	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	680						Missense_Mutation	SNP	ENST00000220676.1	37	c.2039C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.216857	0.00286	.	.	ENSG00000104237	ENST00000220676	T	0.18657	2.2	5.93	1.84	0.25277	.	0.637755	0.13939	N	0.352326	T	0.03305	0.0096	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	10	0.07644	T	0.81	.	1.5798	0.02632	0.1203:0.1629:0.2297:0.4871	.	680	P56715	RP1_HUMAN	V	680	ENSP00000220676:A680V	ENSP00000220676:A680V	A	+	2	0	RP1	55701034	0.001000	0.12720	0.005000	0.12908	0.014000	0.08584	0.341000	0.19909	0.420000	0.25954	-0.218000	0.12543	GCA		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	69	0	0	0	0.001168	0	5	69				
ACOX3	8310	broad.mit.edu	37	4	8416610	8416610	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:8416610T>C	ENST00000356406.5	-	4	501	c.424A>G	c.(424-426)Aca>Gca	p.T142A	ACOX3_ENST00000503233.1_Missense_Mutation_p.T142A|ACOX3_ENST00000413009.2_Missense_Mutation_p.T142A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	142					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.T142A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGAATATATGTGAGATGTCTT	0.403																																						ENST00000356406.5																			1	Substitution - Missense(1)	p.T142A(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						c.(424-426)Aca>Gca		acyl-CoA oxidase 3, pristanoyl							108.0	102.0	104.0					4																	8416610		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8416610T>C	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.424A>G	4.37:g.8416610T>C	ENSP00000348775:p.Thr142Ala					ACOX3_ENST00000413009.2_Missense_Mutation_p.T142A|ACOX3_ENST00000503233.1_Missense_Mutation_p.T142A	p.T142A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN			4	501	-			142					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.424A>G	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	T	7.897	0.733561	0.15574	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233;ENST00000514423	T;T;T;D	0.98849	0.15;0.15;0.15;-5.18	3.9	-3.57	0.04612	Acyl-CoA dehydrogenase/oxidase (1);	1.048000	0.07479	N	0.903512	D	0.93598	0.7956	N	0.11427	0.14	0.09310	N	1	B;B;B	0.14438	0.003;0.01;0.003	B;B;B	0.16289	0.007;0.015;0.003	D	0.88266	0.2926	10	0.34782	T	0.22	-2.115	6.1968	0.20553	0.0:0.3362:0.1296:0.5342	.	142;142;142	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	A	142;142;142;47	ENSP00000413994:T142A;ENSP00000348775:T142A;ENSP00000421625:T142A;ENSP00000427321:T47A	ENSP00000348775:T142A	T	-	1	0	ACOX3	8467510	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.272000	0.18644	-0.359000	0.08150	-0.290000	0.09829	ACA		0.403	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			4	109	0	0	0	0.014758	0	4	109				
SULT1E1	6783	broad.mit.edu	37	4	70721017	70721017	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:70721017A>T	ENST00000226444.3	-	3	384		c.e3+1			NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	CTTGAACGTTACCATTCATGA	0.318																																						ENST00000226444.3																			1	Unknown(1)	p.?(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.e3+1		sulfotransferase family 1E, estrogen-preferring, member 1							113.0	106.0	109.0					4																	70721017		2203	4299	6502	SO:0001630	splice_region_variant	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70721017A>T	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.271+1T>A	4.37:g.70721017A>T								NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN			3	384	-								Q8N6X5	Splice_Site	SNP	ENST00000226444.3	37		CCDS3531.1	.	.	.	.	.	.	.	.	.	.	A	7.494	0.651261	0.14516	.	.	ENSG00000109193	ENST00000226444	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3637	0.38212	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULT1E1	70755606	1.000000	0.71417	0.995000	0.50966	0.010000	0.07245	2.472000	0.45136	1.981000	0.57761	0.459000	0.35465	.		0.318	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420	Intron	10	74	0	0	0	0.006214	0	10	74				
PDE6A	5145	broad.mit.edu	37	5	149247706	149247706	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:149247706G>A	ENST00000255266.5	-	18	2270	c.2151C>T	c.(2149-2151)acC>acT	p.T717T		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	717					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.T717T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	GATCACAGGCGGTCATCATCA	0.547																																						ENST00000255266.5																			1	Substitution - coding silent(1)	p.T717T(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(2149-2151)acC>acT		phosphodiesterase 6A, cGMP-specific, rod, alpha							133.0	114.0	120.0					5																	149247706		2203	4300	6503	SO:0001819	synonymous_variant	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149247706G>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.2151C>T	5.37:g.149247706G>A							p.T717T	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		18	2270	-			717					Q0P638	Silent	SNP	ENST00000255266.5	37	c.2151C>T	CCDS4299.1																																																																																				0.547	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			6	218	0	0	0	0.001168	0	6	218				
KIAA1109	84162	broad.mit.edu	37	4	123192755	123192755	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:123192755G>A	ENST00000264501.4	+	47	8449	c.8076G>A	c.(8074-8076)gtG>gtA	p.V2692V	KIAA1109_ENST00000388738.3_Silent_p.V2692V|KIAA1109_ENST00000455637.1_Silent_p.V2692V			Q2LD37	K1109_HUMAN	KIAA1109	2692					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V2692V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAATTACAGTGTCAGAACAAA	0.373																																						ENST00000264501.4																			1	Substitution - coding silent(1)	p.V2692V(1)	prostate(1)	breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(8074-8076)gtG>gtA		KIAA1109							67.0	65.0	65.0					4																	123192755		1905	4121	6026	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123192755G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8076G>A	4.37:g.123192755G>A						KIAA1109_ENST00000455637.1_Silent_p.V2692V|KIAA1109_ENST00000388738.3_Silent_p.V2692V	p.V2692V			Q2LD37	K1109_HUMAN			47	8449	+			2692					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.8076G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.552|6.552	0.470217|0.470217	0.12461|0.12461	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000419325	.|T	.|0.49139	.|0.79	5.88|5.88	2.31|2.31	0.28768|0.28768	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.48840|0.48840	0.1522|0.1522	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38607|0.38607	-0.9653|-0.9653	4|7	.|0.52906	.|T	.|0.07	.|.	5.4879|5.4879	0.16759|0.16759	0.2679:0.0:0.6046:0.1275|0.2679:0.0:0.6046:0.1275	.|.	.|.	.|.	.|.	Y|I	1265|650	.|ENSP00000393219:V650I	.|ENSP00000393219:V650I	C|V	+|+	2|1	0|0	KIAA1109|KIAA1109	123412205|123412205	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.986000|0.986000	0.74619|0.74619	3.217000|3.217000	0.51184|0.51184	0.127000|0.127000	0.18452|0.18452	-0.225000|-0.225000	0.12378|0.12378	TGT|GTC		0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		5	89	0	0	0	0.014758	0	5	89				
ZFAND5	7763	broad.mit.edu	37	9	74970894	74970894	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:74970894A>C	ENST00000237937.3	-	6	1174	c.617T>G	c.(616-618)gTg>gGg	p.V206G	ZFAND5_ENST00000376960.4_Missense_Mutation_p.V206G|ZFAND5_ENST00000376962.5_Missense_Mutation_p.V206G|ZFAND5_ENST00000343431.2_Missense_Mutation_p.V206G|ZFAND5_ENST00000488164.1_5'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	206					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V206G(1)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						TTTTTCAGCCACAACAACTGG	0.343																																						ENST00000237937.3																			1	Substitution - Missense(1)	p.V206G(1)	prostate(1)	cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(616-618)gTg>gGg		zinc finger, AN1-type domain 5							62.0	60.0	60.0					9																	74970894		2202	4293	6495	SO:0001583	missense	0						DNA binding|zinc ion binding	g.chr9:74970894A>C	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.617T>G	9.37:g.74970894A>C	ENSP00000237937:p.Val206Gly					ZFAND5_ENST00000376960.4_Missense_Mutation_p.V206G|ZFAND5_ENST00000343431.2_Missense_Mutation_p.V206G|ZFAND5_ENST00000376962.5_Missense_Mutation_p.V206G|ZFAND5_ENST00000488164.1_5'UTR	p.V206G	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN			6	1174	-			206					A8K484	Missense_Mutation	SNP	ENST00000237937.3	37	c.617T>G	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420761	0.62622	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431	.	.	.	5.99	5.99	0.97316	Zinc finger, AN1-type (1);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.80348	-0.1420	9	0.87932	D	0	-7.6087	16.4943	0.84223	1.0:0.0:0.0:0.0	.	206	O76080	ZFAN5_HUMAN	G	206	.	ENSP00000237937:V206G	V	-	2	0	ZFAND5	74160714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	GTG		0.343	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			19	104	0	0	0	0.012319	0	19	104				
HIST1H1A	3024	broad.mit.edu	37	6	26017716	26017716	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:26017716C>T	ENST00000244573.3	-	1	324	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	82	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)	p.R82H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CAGCTTAATGCGGCTGTTGTT	0.572																																						ENST00000244573.3																			1	Substitution - Missense(1)	p.R82H(1)	prostate(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						c.(244-246)cGc>cAc		histone cluster 1, H1a							71.0	74.0	73.0					6																	26017716		2203	4300	6503	SO:0001583	missense	3024				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr6:26017716C>T	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.245G>A	6.37:g.26017716C>T	ENSP00000244573:p.Arg82His						p.R82H	NM_005325.3	NP_005316.1	Q02539	H11_HUMAN			1	324	-			82			H15.		Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	c.245G>A	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	35	5.571082	0.96553	.	.	ENSG00000124610	ENST00000244573	T	0.09445	2.98	4.2	4.2	0.49525	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	L	0.58354	1.805	0.80722	D	1	P	0.46784	0.884	P	0.60886	0.88	T	0.00567	-1.1667	10	0.48119	T	0.1	-14.9085	16.4244	0.83809	0.0:1.0:0.0:0.0	.	82	Q02539	H11_HUMAN	H	82	ENSP00000244573:R82H	ENSP00000244573:R82H	R	-	2	0	HIST1H1A	26125695	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.953000	0.56699	2.260000	0.74910	0.609000	0.83330	CGC		0.572	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		6	83	0	0	0	0.001984	0	6	83				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			5	106	0	0	0	0.014758	0	5	106				
NF1	4763	broad.mit.edu	37	17	29528486	29528486	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:29528486C>T	ENST00000358273.4	+	11	1626	c.1243C>T	c.(1243-1245)Cat>Tat	p.H415Y	NF1_ENST00000431387.4_Missense_Mutation_p.H415Y|NF1_ENST00000356175.3_Missense_Mutation_p.H415Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	415					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.H415Y(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAATTCACTCCATCGAATCAT	0.303			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	16	Whole gene deletion(8)|Unknown(6)|Substitution - Missense(2)	p.0?(8)|p.?(6)|p.H415Y(2)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|prostate(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1243-1245)Cat>Tat		neurofibromin 1							86.0	96.0	93.0					17																	29528486		2203	4294	6497	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29528486C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1243C>T	17.37:g.29528486C>T	ENSP00000351015:p.His415Tyr	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.H415Y|NF1_ENST00000431387.4_Missense_Mutation_p.H415Y	p.H415Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	11	1626	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	415					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.1243C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	2.566	-0.300741	0.05495	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.17	5.17	0.71159	Armadillo-type fold (1);	0.047722	0.85682	D	0.000000	T	0.80110	0.4563	N	0.25380	0.74	0.80722	D	1	B;D;B;D;D	0.56968	0.007;0.978;0.024;0.977;0.977	B;P;B;P;P	0.61328	0.003;0.887;0.01;0.709;0.709	T	0.73861	-0.3849	10	0.02654	T	1	.	18.6538	0.91441	0.0:1.0:0.0:0.0	.	415;415;415;415;415	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	Y	415;415;415;81	ENSP00000412921:H415Y;ENSP00000351015:H415Y;ENSP00000348498:H415Y;ENSP00000389907:H81Y	ENSP00000348498:H415Y	H	+	1	0	NF1	26552612	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.440000	0.66563	2.412000	0.81896	0.491000	0.48974	CAT		0.303	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		5	286	0	0	0	0.001168	0	5	286				
CSMD1	64478	broad.mit.edu	37	8	2830734	2830734	+	Missense_Mutation	SNP	C	C	T	rs374773802		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr8:2830734C>T	ENST00000520002.1	-	58	9386	c.8831G>A	c.(8830-8832)cGc>cAc	p.R2944H	CSMD1_ENST00000537824.1_Missense_Mutation_p.R2943H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2885H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2886H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2886H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2944H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2944	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.R2943H(1)|p.R2672H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAGGAGAAGCGGAGAAGACT	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15379	0.0		0.0	False		,,,				2504	0.0					ENST00000520002.1																			2	Substitution - Missense(2)	p.R2943H(1)|p.R2672H(1)	prostate(2)	breast(20)|large_intestine(5)	25						c.(8830-8832)cGc>cAc		CUB and Sushi multiple domains 1		C	HIS/ARG	2,3898		0,2,1948	108.0	113.0	111.0		8828	5.2	0.9	8		111	0,8290		0,0,4145	no	missense	CSMD1	NM_033225.5	29	0,2,6093	TT,TC,CC		0.0,0.0513,0.0164	probably-damaging	2943/3565	2830734	2,12188	1950	4145	6095	SO:0001583	missense	64478					integral to membrane		g.chr8:2830734C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8831G>A	8.37:g.2830734C>T	ENSP00000430733:p.Arg2944His					CSMD1_ENST00000602557.1_Missense_Mutation_p.R2944H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2885H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2886H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2943H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2886H	p.R2944H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	58	9386	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2944			Sushi 22.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8831G>A		.	.	.	.	.	.	.	.	.	.	C	12.55	1.971520	0.34754	5.13E-4	0.0	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.21	5.21	0.72293	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	L	0.33485	1.01	0.80722	D	1	D;B;D	0.89917	1.0;0.264;1.0	D;B;D	0.83275	0.983;0.178;0.996	T	0.66559	-0.5893	10	0.25106	T	0.35	.	18.7778	0.91918	0.0:1.0:0.0:0.0	.	2944;2944;2885	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	H	2886;2944;2805;2943;2885	ENSP00000383047:R2886H;ENSP00000430733:R2944H;ENSP00000441462:R2943H;ENSP00000446243:R2885H	ENSP00000320445:R2805H	R	-	2	0	CSMD1	2818141	1.000000	0.71417	0.916000	0.36221	0.184000	0.23303	5.678000	0.68153	2.423000	0.82170	0.655000	0.94253	CGC		0.537	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		55	186	0	0	0	0.014410	0	55	186				
TRIM36	55521	broad.mit.edu	37	5	114466559	114466559	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:114466559C>T	ENST00000282369.3	-	9	1683	c.1562G>A	c.(1561-1563)tGt>tAt	p.C521Y	TRIM36_ENST00000514154.1_Missense_Mutation_p.C366Y|TRIM36_ENST00000513154.1_Missense_Mutation_p.C509Y	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	521	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C521Y(2)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ATTATAGCCACATTTTTCATC	0.368																																						ENST00000513154.1																			2	Substitution - Missense(2)	p.C521Y(2)	prostate(2)	breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(1525-1527)tGt>tAt		tripartite motif containing 36							70.0	71.0	71.0					5																	114466559		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114466559C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1562G>A	5.37:g.114466559C>T	ENSP00000282369:p.Cys521Tyr					TRIM36_ENST00000514154.1_Missense_Mutation_p.C366Y|TRIM36_ENST00000282369.3_Missense_Mutation_p.C521Y	p.C509Y			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	9	1852	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	521			B30.2/SPRY.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.1526G>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309039	0.81247	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.60424	0.19;0.19;0.19	5.8	5.8	0.92144	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.986	D;D	0.85130	0.997;0.938	T	0.63972	-0.6516	10	0.13853	T	0.58	.	20.064	0.97700	0.0:1.0:0.0:0.0	.	509;521	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	521;509;366	ENSP00000282369:C521Y;ENSP00000423934:C509Y;ENSP00000424259:C366Y	ENSP00000282369:C521Y	C	-	2	0	TRIM36	114494458	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.234000	0.78134	2.739000	0.93911	0.467000	0.42956	TGT		0.368	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		25	119	0	0	0	0.004656	0	25	119				
ATF7IP	55729	broad.mit.edu	37	12	14649241	14649241	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:14649241G>C	ENST00000540793.1	+	13	3512	c.3357G>C	c.(3355-3357)caG>caC	p.Q1119H	ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1119H|ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1118H|ATF7IP_ENST00000544627.1_Missense_Mutation_p.Q1127H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1119					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.Q1119H(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CAGGACCTCAGCTCACAGTGC	0.383																																						ENST00000544627.1																			1	Substitution - Missense(1)	p.Q1119H(1)	prostate(1)	cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(3379-3381)caG>caC		activating transcription factor 7 interacting protein							122.0	92.0	102.0					12																	14649241		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14649241G>C	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3357G>C	12.37:g.14649241G>C	ENSP00000444589:p.Gln1119His					ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1118H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.Q1119H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1119H	p.Q1127H			Q6VMQ6	MCAF1_HUMAN			14	3701	+			1119					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.3381G>C	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581413	0.65992	.	.	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000010	T	0.47060	0.1425	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.40608	-0.9554	10	0.72032	D	0.01	-7.1868	19.4796	0.95003	0.0:0.0:1.0:0.0	.	1118;1119	G3V1U0;Q6VMQ6	.;MCAF1_HUMAN	H	1119;1118;1127;1119	ENSP00000261168:Q1119H;ENSP00000445955:Q1118H;ENSP00000440440:Q1127H;ENSP00000444589:Q1119H	ENSP00000261168:Q1119H	Q	+	3	2	ATF7IP	14540508	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	3.338000	0.52128	2.669000	0.90835	0.643000	0.83706	CAG		0.383	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		19	59	0	0	0	0.008871	0	19	59				
MUC16	94025	broad.mit.edu	37	19	9047100	9047100	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:9047100G>A	ENST00000397910.4	-	5	34734	c.34531C>T	c.(34531-34533)Cat>Tat	p.H11511Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11513	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.H11511Y(1)|p.H7144Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTTACTATGGGAAAACTTG	0.498																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.H11511Y(1)|p.H7144Y(1)	prostate(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34531-34533)Cat>Tat		mucin 16, cell surface associated							146.0	143.0	144.0					19																	9047100		2058	4206	6264	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047100G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34531C>T	19.37:g.9047100G>A	ENSP00000381008:p.His11511Tyr						p.H11511Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	34734	-			11513			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34531C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.823	0.152973	0.09185	.	.	ENSG00000181143	ENST00000397910	T	0.02015	4.5	2.56	-0.892	0.10570	.	.	.	.	.	T	0.02455	0.0075	L	0.46157	1.445	.	.	.	B	0.16603	0.018	B	0.15484	0.013	T	0.30297	-0.9983	8	0.87932	D	0	.	5.1579	0.15044	0.4547:0.0:0.5453:0.0	.	11511	B5ME49	.	Y	11511	ENSP00000381008:H11511Y	ENSP00000381008:H11511Y	H	-	1	0	MUC16	8908100	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.699000	0.05087	-0.103000	0.12175	0.586000	0.80456	CAT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		53	140	0	0	0	0.014410	0	53	140				
LRP6	4040	broad.mit.edu	37	12	12302059	12302059	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:12302059G>A	ENST00000261349.4	-	14	3099	c.3023C>T	c.(3022-3024)cCg>cTg	p.P1008L	LRP6_ENST00000543091.1_Missense_Mutation_p.P1008L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1008	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P1008L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTTCTGACTCGGAACTGAGCT	0.433																																						ENST00000261349.4																			2	Substitution - Missense(2)	p.P1008L(2)	prostate(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3022-3024)cCg>cTg		low density lipoprotein receptor-related protein 6							168.0	169.0	169.0					12																	12302059		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12302059G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3023C>T	12.37:g.12302059G>A	ENSP00000261349:p.Pro1008Leu					LRP6_ENST00000543091.1_Missense_Mutation_p.P1008L	p.P1008L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			14	3099	-		Prostate(47;0.0865)	1008			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3023C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621884	0.28889	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91237	-2.81;-2.81	5.91	5.91	0.95273	Six-bladed beta-propeller, TolB-like (1);	0.098576	0.43579	U	0.000559	T	0.79621	0.4477	N	0.02247	-0.625	0.48236	D	0.999618	B;B	0.27316	0.107;0.175	B;B	0.20577	0.026;0.03	T	0.75202	-0.3401	10	0.27785	T	0.31	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	1008;1008	F5H7J9;O75581	.;LRP6_HUMAN	L	1008	ENSP00000261349:P1008L;ENSP00000442472:P1008L	ENSP00000261349:P1008L	P	-	2	0	LRP6	12193326	1.000000	0.71417	0.928000	0.36995	0.239000	0.25481	3.476000	0.53143	2.804000	0.96469	0.650000	0.86243	CCG		0.433	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			11	390	0	0	0	0.008291	0	11	390				
NSRP1	84081	broad.mit.edu	37	17	28512652	28512652	+	Missense_Mutation	SNP	G	G	T	rs559964855		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:28512652G>T	ENST00000247026.5	+	7	1700	c.1637G>T	c.(1636-1638)cGg>cTg	p.R546L	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	546					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CAGATGGCGCGGGTTAATGCA	0.453																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(1636-1638)cGg>cTg		nuclear speckle splicing regulatory protein 1							89.0	92.0	91.0					17																	28512652		2203	4300	6503	SO:0001583	missense	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28512652G>T	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1637G>T	17.37:g.28512652G>T	ENSP00000247026:p.Arg546Leu					NSRP1_ENST00000540900.3_3'UTR	p.R546L	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			7	1700	+			546					Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	c.1637G>T	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143392	0.77888	.	.	ENSG00000126653	ENST00000247026;ENST00000540900	T	0.78003	-1.14	5.7	4.73	0.59995	.	0.062012	0.64402	D	0.000003	D	0.85496	0.5710	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	D	0.87114	0.2187	10	0.87932	D	0	-0.0404	13.9326	0.64006	0.0729:0.0:0.9271:0.0	.	546	Q9H0G5	NSRP1_HUMAN	L	546;477	ENSP00000247026:R546L	ENSP00000247026:R546L	R	+	2	0	NSRP1	25536778	1.000000	0.71417	0.978000	0.43139	0.745000	0.42441	9.384000	0.97219	1.425000	0.47237	0.557000	0.71058	CGG		0.453	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		4	172	1	0	0.00909568	0.009096	0.0102487	4	172				
ASB5	140458	broad.mit.edu	37	4	177190130	177190130	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:177190130C>G	ENST00000296525.3	-	1	243	c.130G>C	c.(130-132)Gtg>Ctg	p.V44L		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	44					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.V44L(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTGCCTTTCACTATGTAGAAA	0.393																																						ENST00000296525.3																			1	Substitution - Missense(1)	p.V44L(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(130-132)Gtg>Ctg		ankyrin repeat and SOCS box containing 5							109.0	99.0	102.0					4																	177190130		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177190130C>G	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.130G>C	4.37:g.177190130C>G	ENSP00000296525:p.Val44Leu						p.V44L	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	1	243	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	44					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.130G>C	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820571	0.90873	.	.	ENSG00000164122	ENST00000296525	T	0.40476	1.03	5.84	5.84	0.93424	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	L	0.32530	0.975	0.80722	D	1	D	0.53745	0.962	P	0.51866	0.682	T	0.17806	-1.0357	10	0.33940	T	0.23	-20.4979	20.1466	0.98079	0.0:1.0:0.0:0.0	.	44	Q8WWX0	ASB5_HUMAN	L	44	ENSP00000296525:V44L	ENSP00000296525:V44L	V	-	1	0	ASB5	177427124	1.000000	0.71417	0.972000	0.41901	0.914000	0.54420	4.884000	0.63135	2.779000	0.95612	0.591000	0.81541	GTG		0.393	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			7	128	0	0	0	0.001984	0	7	128				
ZNRF2	223082	broad.mit.edu	37	7	30402036	30402036	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:30402036C>A	ENST00000323037.4	+	4	1766	c.715C>A	c.(715-717)Cac>Aac	p.H239N		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	239						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H239N(1)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						TTGCCCTGAGCACCCTTCAGA	0.294																																						ENST00000323037.4																			1	Substitution - Missense(1)	p.H239N(1)	prostate(1)	breast(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(715-717)Cac>Aac		zinc and ring finger 2							91.0	94.0	93.0					7																	30402036		2203	4300	6503	SO:0001583	missense	223082					cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	g.chr7:30402036C>A	AF513707	CCDS5426.1	7p15.1	2013-01-09			ENSG00000180233	ENSG00000180233		"""RING-type (C3HC4) zinc fingers"""	22316	protein-coding gene	gene with protein product		612061					Standard	NM_147128		Approved	RNF202	uc003tat.3	Q8NHG8	OTTHUMG00000097759	ENST00000323037.4:c.715C>A	7.37:g.30402036C>A	ENSP00000323879:p.His239Asn						p.H239N	NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN			4	1766	+			239						Missense_Mutation	SNP	ENST00000323037.4	37	c.715C>A	CCDS5426.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729138	0.48833	.	.	ENSG00000180233	ENST00000323037;ENST00000319243	.	.	.	5.2	5.2	0.72013	Zinc finger, RING-type (2);	0.079254	0.49305	U	0.000152	T	0.79656	0.4483	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.82232	-0.0559	9	0.87932	D	0	-6.6561	17.7134	0.88328	0.0:1.0:0.0:0.0	.	239	Q8NHG8	ZNRF2_HUMAN	N	239;177	.	ENSP00000326497:H177N	H	+	1	0	ZNRF2	30368561	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.053000	0.71089	2.419000	0.82065	0.585000	0.79938	CAC		0.294	ZNRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214992.1	NM_147128		19	106	1	0	8.34094e-07	0.008871	9.67065e-07	19	106				
OSBPL10	114884	broad.mit.edu	37	3	31710253	31710253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr3:31710253C>T	ENST00000396556.2	-	10	2099	c.1977G>A	c.(1975-1977)tgG>tgA	p.W659*	OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.W595*	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	659					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.W659*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AAGTACCATTCCATTCCCCAT	0.433																																						ENST00000396556.2																			2	Substitution - Nonsense(2)	p.W659*(2)	prostate(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1975-1977)tgG>tgA		oxysterol binding protein-like 10							291.0	246.0	261.0					3																	31710253		2203	4300	6503	SO:0001587	stop_gained	114884				lipid transport		lipid binding	g.chr3:31710253C>T	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1977G>A	3.37:g.31710253C>T	ENSP00000379804:p.Trp659*					OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.W595*	p.W659*	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	10	2099	-			659					B4E212|Q9BTU5	Nonsense_Mutation	SNP	ENST00000396556.2	37	c.1977G>A	CCDS2651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.147727|7.147727	0.98096|0.98096	.|.	.|.	ENSG00000144645|ENSG00000144645	ENST00000429492|ENST00000396556;ENST00000438237	.|.	.|.	.|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46737|.	0.1408|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37291|.	-0.9712|.	3|.	.|0.02654	.|T	.|1	-13.3771|-13.3771	18.902|18.902	0.92446|0.92446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	428|659;595	.|.	.|ENSP00000379804:W659X	G|W	-|-	2|3	0|0	OSBPL10|OSBPL10	31685257|31685257	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	7.776000|7.776000	0.85560|0.85560	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.433	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			72	242	0	0	0	0.014410	0	72	242				
GOT2	2806	broad.mit.edu	37	16	58743428	58743428	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr16:58743428G>A	ENST00000245206.5	-	9	1191	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	355					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.R355W(2)|p.R355G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	AGTTGAGTCCGCATGCCAATG	0.507																																						ENST00000245206.5																			3	Substitution - Missense(3)	p.R355W(2)|p.R355G(1)	prostate(1)|lung(1)|endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22						c.(1063-1065)Cgg>Tgg		glutamic-oxaloacetic transaminase 2, mitochondrial	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						222.0	211.0	215.0					16																	58743428		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58743428G>A		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.1063C>T	16.37:g.58743428G>A	ENSP00000245206:p.Arg355Trp					GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	p.R355W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN			9	1191	-			355					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.1063C>T	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418094	0.62622	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	T;T	0.34275	1.37;1.37	5.31	0.557	0.17260	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.85130	0.874;0.997	T	0.76583	-0.2906	9	.	.	.	-0.235	9.3835	0.38329	0.0714:0.0:0.526:0.4025	.	312;355	E7ERW2;P00505	.;AATM_HUMAN	W	355;312	ENSP00000245206:R355W;ENSP00000394100:R312W	.	R	-	1	2	GOT2	57300929	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	1.345000	0.33953	0.584000	0.29591	-0.128000	0.14901	CGG		0.507	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			5	344	0	0	0	0.001984	0	5	344				
CIB2	10518	broad.mit.edu	37	15	78403582	78403582	+	Silent	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:78403582G>A	ENST00000258930.3	-	3	451	c.123C>T	c.(121-123)ctC>ctT	p.L41L	CIB2_ENST00000557846.1_Intron|CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000539011.1_5'UTR	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	41					calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.L41L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CCATTGGGACGAGGTTGGGGG	0.607																																						ENST00000258930.3																			1	Substitution - coding silent(1)	p.L41L(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(121-123)ctC>ctT		calcium and integrin binding family member 2							100.0	97.0	98.0					15																	78403582		2196	4293	6489	SO:0001819	synonymous_variant	10518						calcium ion binding	g.chr15:78403582G>A	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.123C>T	15.37:g.78403582G>A						CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_5'UTR|CIB2_ENST00000560618.1_5'UTR	p.L41L	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN			3	451	-			41					B4DDF0|H0YM71|Q05BT6	Silent	SNP	ENST00000258930.3	37	c.123C>T	CCDS10296.1																																																																																				0.607	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		7	128	0	0	0	0.001984	0	7	128				
LRRC4B	94030	broad.mit.edu	37	19	51022077	51022077	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:51022077G>A	ENST00000599957.1	-	3	1090	c.893C>T	c.(892-894)aCg>aTg	p.T298M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.T298M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	298					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.T298M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGCAGGGGCGTGAAGAGGTC	0.637																																						ENST00000599957.1																			1	Substitution - Missense(1)	p.T298M(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(892-894)aCg>aTg		leucine rich repeat containing 4B							86.0	103.0	97.0					19																	51022077		2169	4264	6433	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022077G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.893C>T	19.37:g.51022077G>A	ENSP00000471502:p.Thr298Met					LRRC4B_ENST00000389201.3_Missense_Mutation_p.T298M	p.T298M			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1090	-		all_neural(266;0.131)	298					Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.893C>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004646	0.54254	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.57907	0.37	3.7	3.7	0.42460	.	0.000000	0.85682	U	0.000000	T	0.60932	0.2307	L	0.37507	1.11	0.48632	D	0.999681	D	0.89917	1.0	D	0.74023	0.982	T	0.63431	-0.6639	10	0.54805	T	0.06	.	13.3505	0.60599	0.0:0.0:1.0:0.0	.	298	Q9NT99	LRC4B_HUMAN	M	298	ENSP00000373853:T298M	ENSP00000373853:T298M	T	-	2	0	LRRC4B	55713889	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.666000	0.83877	2.084000	0.62774	0.561000	0.74099	ACG		0.637	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		27	113	0	0	0	0.013726	0	27	113				
TM7SF2	7108	broad.mit.edu	37	11	64880871	64880871	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr11:64880871C>T	ENST00000279263.7	+	4	646	c.484C>T	c.(484-486)Cct>Tct	p.P162S	TM7SF2_ENST00000345348.5_Missense_Mutation_p.P162S|TM7SF2_ENST00000531029.1_3'UTR|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000540748.1_Missense_Mutation_p.P46S	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	162					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)	p.P162S(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCCCTGGCACCTGGGGGGAA	0.587											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000279263.7																			1	Substitution - Missense(1)	p.P162S(1)	prostate(1)	lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(484-486)Cct>Tct		transmembrane 7 superfamily member 2							84.0	95.0	92.0					11																	64880871		1994	4152	6146	SO:0001583	missense	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64880871C>T	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.484C>T	11.37:g.64880871C>T	ENSP00000279263:p.Pro162Ser		OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	134	TM7SF2_ENST00000540748.1_Missense_Mutation_p.P46S|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P162S|TM7SF2_ENST00000531029.1_3'UTR	p.P162S	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN			4	646	+			162					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	c.484C>T	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135651	0.37728	.	.	ENSG00000149809	ENST00000279263;ENST00000524986;ENST00000534371;ENST00000540748;ENST00000525385;ENST00000345348;ENST00000529414	D;D;D;D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62;-4.62;-4.62;-4.62	4.81	4.81	0.61882	.	0.059313	0.64402	D	0.000003	D	0.95953	0.8682	M	0.65498	2.005	0.39304	D	0.964951	B;P;B	0.36789	0.082;0.57;0.425	B;B;B	0.36378	0.036;0.142;0.223	D	0.95709	0.8756	10	0.12103	T	0.63	-15.5827	15.4064	0.74881	0.0:1.0:0.0:0.0	.	46;162;162	F5GYV3;O76062-2;O76062	.;.;ERG24_HUMAN	S	162;133;94;46;133;162;162	ENSP00000279263:P162S;ENSP00000435972:P133S;ENSP00000432187:P94S;ENSP00000441215:P46S;ENSP00000433325:P133S;ENSP00000329520:P162S;ENSP00000433275:P162S	ENSP00000279263:P162S	P	+	1	0	TM7SF2	64637447	0.943000	0.32029	1.000000	0.80357	0.816000	0.46133	2.929000	0.48916	2.498000	0.84270	0.561000	0.74099	CCT		0.587	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		55	170	0	0	0	0.014410	0	55	170				
PAX5	5079	broad.mit.edu	37	9	36923352	36923352	+	Splice_Site	SNP	C	C	A			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:36923352C>A	ENST00000358127.4	-	7	984	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C	PAX5_ENST00000414447.1_Splice_Site_p.G261C|PAX5_ENST00000377853.2_Splice_Site_p.G304C|PAX5_ENST00000377847.2_Splice_Site_p.G304C|PAX5_ENST00000520281.1_Splice_Site_p.G261C|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523145.1_Splice_Site_p.G196C|PAX5_ENST00000377852.2_Splice_Site_p.G304W|PAX5_ENST00000522003.1_Splice_Site_p.G196C|PAX5_ENST00000446742.1_Splice_Site_p.G238W|PAX5_ENST00000523241.1_Intron	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	304		Breakpoint for translocation to form PAX5-ZNF521.			humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(23)|p.G304C(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GTGCCCTCACCTGTCACAATG	0.607			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	ENST00000358127.4				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	24	Unknown(23)|Substitution - Missense(1)	p.?(23)|p.G304C(1)	haematopoietic_and_lymphoid_tissue(23)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.e7+1		paired box 5							54.0	57.0	56.0					9																	36923352		2203	4299	6502	SO:0001630	splice_region_variant	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36923352C>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.910+1G>T	9.37:g.36923352C>A						PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377847.2_Splice_Site_p.G304_splice|PAX5_ENST00000446742.1_Splice_Site_p.G238_splice|PAX5_ENST00000523145.1_Splice_Site_p.G196_splice|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000520281.1_Splice_Site_p.G261_splice|PAX5_ENST00000414447.1_Splice_Site_p.G261_splice|PAX5_ENST00000522003.1_Splice_Site_p.G196_splice|PAX5_ENST00000377852.2_Splice_Site_p.G304_splice|PAX5_ENST00000377853.2_Splice_Site_p.G304_splice	p.G304_splice	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	7	984	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	304				Breakpoint for translocation to form PAX5-ZNF521.	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Splice_Site	SNP	ENST00000358127.4	37	c.910_splice	CCDS6607.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.822234|4.822234	0.90873|0.90873	.|.	.|.	ENSG00000196092|ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000520281;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847;ENST00000524340|ENST00000377852;ENST00000446742	T;T;T;T;D;T;D;T|T;T	0.98164|0.43688	0.22;0.22;0.22;0.22;-2.61;0.22;-4.76;0.22|0.94;0.94	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.052589|0.052589	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.68924|0.68924	0.3054|0.3054	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|D;D	0.89917|0.89917	1.0;1.0;1.0;1.0;1.0;1.0|1.0;1.0	D;D;D;D;D;D|D;D	0.97110|0.97110	0.999;1.0;0.996;1.0;0.999;0.999|1.0;0.999	T|T	0.71251|0.71251	-0.4648|-0.4648	10|10	0.41790|0.87932	T|D	0.15|0	.|.	19.1082|19.1082	0.93305|0.93305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	261;261;304;131;304;304|238;304	C0KTF8;C0KTF7;C0KTF6;C0KTE2;Q6S730;Q02548|C0KTF9;Q6S731	.;.;.;.;.;PAX5_HUMAN|.;.	C|W	304;215;304;261;196;196;261;304;131|304;238	ENSP00000350844:G304C;ENSP00000367084:G304C;ENSP00000430773:G261C;ENSP00000429359:G196C;ENSP00000429197:G196C;ENSP00000412188:G261C;ENSP00000367078:G304C;ENSP00000429404:G131C|ENSP00000367083:G304W;ENSP00000404687:G238W	ENSP00000350844:G304C|ENSP00000367083:G304W	G|G	-|-	1|1	0|0	PAX5|PAX5	36913352|36913352	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	6.657000|6.657000	0.74402|0.74402	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GGC|GGG		0.607	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1		Missense_Mutation	40	131	1	0	3.54561e-26	0.009718	4.23356e-26	40	131				
SALL4	57167	broad.mit.edu	37	20	50401031	50401031	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr20:50401031C>T	ENST00000217086.4	-	4	3046	c.2935G>A	c.(2935-2937)Ggt>Agt	p.G979S	SALL4_ENST00000371539.3_Missense_Mutation_p.G202S|SALL4_ENST00000395997.3_Missense_Mutation_p.G542S	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	979					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G979S(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACGGCCAGACCGCCATTGAGC	0.547																																						ENST00000217086.4																			1	Substitution - Missense(1)	p.G979S(1)	prostate(1)	endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2935-2937)Ggt>Agt		spalt-like transcription factor 4							100.0	89.0	93.0					20																	50401031		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50401031C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2935G>A	20.37:g.50401031C>T	ENSP00000217086:p.Gly979Ser					SALL4_ENST00000395997.3_Missense_Mutation_p.G542S|SALL4_ENST00000371539.3_Missense_Mutation_p.G202S	p.G979S	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			4	3046	-			979					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2935G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686249	0.88639	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.66460	-0.21;-0.21;-0.21	4.8	4.8	0.61643	.	0.000000	0.43919	D	0.000503	T	0.78201	0.4246	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.998;0.993;1.0	P;B;D	0.91635	0.883;0.377;0.999	T	0.73534	-0.3952	10	0.19147	T	0.46	-23.105	18.203	0.89844	0.0:1.0:0.0:0.0	.	542;202;979	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	S	979;542;202	ENSP00000217086:G979S;ENSP00000379319:G542S;ENSP00000360594:G202S	ENSP00000217086:G979S	G	-	1	0	SALL4	49834438	1.000000	0.71417	0.478000	0.27316	0.813000	0.45954	6.050000	0.71063	2.381000	0.81170	0.561000	0.74099	GGT		0.547	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			25	160	0	0	0	0.016522	0	25	160				
NBAS	51594	broad.mit.edu	37	2	15608534	15608534	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr2:15608534C>T	ENST00000281513.5	-	17	1874	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T	NBAS_ENST00000441750.1_Missense_Mutation_p.A617T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	617					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.A617T(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCCCTATTGCTAAAAGAGCC	0.413																																						ENST00000281513.5																			1	Substitution - Missense(1)	p.A617T(1)	prostate(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(1849-1851)Gca>Aca		neuroblastoma amplified sequence							138.0	136.0	137.0					2																	15608534		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15608534C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1849G>A	2.37:g.15608534C>T	ENSP00000281513:p.Ala617Thr					NBAS_ENST00000441750.1_Missense_Mutation_p.A617T	p.A617T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			17	1874	-			617					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.1849G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886252	0.72410	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.11821	2.74;2.9	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	L	0.58669	1.825	0.43982	D	0.996675	D	0.89917	1.0	D	0.83275	0.996	T	0.02813	-1.1107	10	0.87932	D	0	.	19.9924	0.97371	0.0:1.0:0.0:0.0	.	617	A2RRP1	NBAS_HUMAN	T	617	ENSP00000413201:A617T;ENSP00000281513:A617T	ENSP00000281513:A617T	A	-	1	0	NBAS	15525985	1.000000	0.71417	0.172000	0.22920	0.696000	0.40369	4.933000	0.63484	2.727000	0.93392	0.650000	0.86243	GCA		0.413	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		52	254	0	0	0	0.014410	0	52	254				
FAM169A	26049	broad.mit.edu	37	5	74091853	74091853	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:74091853A>G	ENST00000389156.4	-	11	1351		c.e11+1		FAM169A_ENST00000510496.1_Splice_Site|FAM169A_ENST00000380515.3_Splice_Site	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A							membrane (GO:0016020)|nucleus (GO:0005634)		p.?(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GTGATCTCATACCTTTTCACC	0.368																																						ENST00000389156.4																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						c.e11+1		family with sequence similarity 169, member A							214.0	200.0	204.0					5																	74091853		1944	4138	6082	SO:0001630	splice_region_variant	26049							g.chr5:74091853A>G		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.1260+1T>C	5.37:g.74091853A>G						FAM169A_ENST00000380515.3_Splice_Site|FAM169A_ENST00000510496.1_Splice_Site		NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN			11	1351	-								A8K1T9|Q6MZT0|Q9H989	Splice_Site	SNP	ENST00000389156.4	37		CCDS43330.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.272822	0.23221	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3534	0.49602	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM169A	74127609	0.999000	0.42202	0.907000	0.35723	0.033000	0.12548	4.715000	0.61909	2.185000	0.69588	0.482000	0.46254	.		0.368	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2		Intron	5	371	0	0	0	0.001984	0	5	371				
WDR7	23335	broad.mit.edu	37	18	54603078	54603078	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr18:54603078C>T	ENST00000254442.3	+	23	3984	c.3773C>T	c.(3772-3774)gCc>gTc	p.A1258V	WDR7_ENST00000357574.3_Missense_Mutation_p.A1225V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1258					hematopoietic progenitor cell differentiation (GO:0002244)			p.A1258V(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCGAGGCATGCCCTCTCGCTC	0.537																																						ENST00000254442.3																			1	Substitution - Missense(1)	p.A1258V(1)	prostate(1)	NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3772-3774)gCc>gTc		WD repeat domain 7							87.0	88.0	87.0					18																	54603078		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54603078C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3773C>T	18.37:g.54603078C>T	ENSP00000254442:p.Ala1258Val					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A1225V	p.A1258V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	23	3984	+			1258					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3773C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	34	5.375774	0.95923	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.44881	0.91;1.25	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	L	0.58510	1.815	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.978	T	0.64300	-0.6440	10	0.87932	D	0	.	19.4635	0.94929	0.0:1.0:0.0:0.0	.	1225;1258	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	1258;1225;583;1225	ENSP00000254442:A1258V;ENSP00000350187:A1225V	ENSP00000254442:A1258V	A	+	2	0	WDR7	52754076	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.514000	0.81750	2.715000	0.92844	0.585000	0.79938	GCC		0.537	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			4	175	0	0	0	0.014758	0	4	175				
TAPT1-AS1	202020	broad.mit.edu	37	4	16257859	16257860	+	RNA	INS	-	-	T	rs397691726|rs146274448|rs60066752	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:16257859_16257860insT	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		GAGGGTTTGTCTTTTTTTTTTT	0.381																																						ENST00000570786.1																			0																																																			0							g.chr4:16257859_16257860insT			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16257870_16257870dupT						TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA		NR_027696.1						0	234	+									RNA	INS	ENST00000570786.1	37																																																																																						0.381	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		3	4						3	4	---	---	---	---
KTN1-AS1	100129075	broad.mit.edu	37	14	56014150	56014151	+	RNA	INS	-	-	A	rs66533357		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr14:56014150_56014151insA	ENST00000554558.1	-	0	364							Q86SY8	KTAS1_HUMAN	KTN1 antisense RNA 1																		aacactgtctcaaaaaaaaaaa	0.46																																						ENST00000554558.1																			0																																																			0							g.chr14:56014150_56014151insA			14q22.3	2012-10-12	2012-08-15	2011-12-07	ENSG00000186615	ENSG00000186615		"""Long non-coding RNAs"""	19842	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 33"", ""KTN1 antisense RNA 1 (non-protein coding)"""	C14orf33			Standard	NR_027123		Approved		uc001xbz.2	Q86SY8	OTTHUMG00000171057		14.37:g.56014161_56014161dupA														0	364	-									RNA	INS	ENST00000554558.1	37																																																																																						0.460	KTN1-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000411452.1	NR_027123		2	4						2	4	---	---	---	---
AC015922.5	0	broad.mit.edu	37	17	15737072	15737073	+	RNA	INS	-	-	TTTA			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:15737072_15737073insTTTA	ENST00000584636.1	+	0	316																											CTCTATCCTGCTTTATCTTGGA	0.46																																						ENST00000584636.1																			0																																																			0							g.chr17:15737072_15737073insTTTA																													17.37:g.15737073_15737076dupTTTA														0	316	+									RNA	INS	ENST00000584636.1	37																																																																																						0.460	AC015922.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444654.1			3	5						3	5	---	---	---	---
