#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
TET1	80312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	70451205	70451205	+	Silent	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr10:70451205C>T	ENST00000373644.4	+	12	6254	c.6045C>T	c.(6043-6045)caC>caT	p.H2015H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2015					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CACCTGCTCACGGCTCGGTTT	0.532																																																0													123.0	117.0	119.0					10																	70451205		2203	4300	6503	SO:0001819	synonymous_variant	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6045C>T	10.37:g.70451205C>T			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																				0.532	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		107	189	107	189
ZNF143	7702	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	9499964	9499964	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:9499964C>T	ENST00000396602.2	+	6	520	c.401C>T	c.(400-402)gCg>gTg	p.A134V	ZNF143_ENST00000396597.3_Missense_Mutation_p.A103V|ZNF143_ENST00000396604.1_Missense_Mutation_p.A133V|ZNF143_ENST00000299606.2_Missense_Mutation_p.A106V|ZNF143_ENST00000530463.1_Missense_Mutation_p.A133V	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	134					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GCATTACAGGCGGTTCAGCTG	0.433																																																0													123.0	108.0	113.0					11																	9499964		2201	4294	6495	SO:0001583	missense	7702			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.401C>T	11.37:g.9499964C>T	ENSP00000379847:p.Ala134Val		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	CCDS7799.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.838809|4.838809	0.91117|0.91117	.|.	.|.	ENSG00000166478|ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000299606;ENST00000534265;ENST00000412390|ENST00000526657	T;T;T;T;T;T;T;T;T;T;T|T	0.54279|0.53423	0.67;2.7;2.72;2.7;0.63;0.62;2.77;0.58;2.68;0.59;0.59|0.62	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.65512|0.65512	0.2698|0.2698	M|M	0.71036|0.71036	2.16|2.16	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|.	0.89917|.	0.999;1.0;0.999|.	D;D;D|.	0.75484|.	0.981;0.986;0.98|.	T|T	0.70963|0.70963	-0.4729|-0.4729	10|7	0.34782|0.87932	T|D	0.22|0	.|.	17.7713|17.7713	0.88493|0.88493	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	103;133;134|.	P52747-2;E7ER34;P52747|.	.;.;ZN143_HUMAN|.	V|W	134;133;134;133;102;133;103;134;106;134;133|133	ENSP00000434638:A134V;ENSP00000379849:A133V;ENSP00000379847:A134V;ENSP00000432154:A133V;ENSP00000434922:A102V;ENSP00000433221:A133V;ENSP00000379843:A103V;ENSP00000409432:A134V;ENSP00000299606:A106V;ENSP00000433743:A134V;ENSP00000388628:A133V|ENSP00000435881:R133W	ENSP00000299606:A106V|ENSP00000435881:R133W	A|R	+|+	2|1	0|2	ZNF143|ZNF143	9456540|9456540	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.990000|0.990000	0.78478|0.78478	5.753000|5.753000	0.68736|0.68736	2.274000|2.274000	0.75844|0.75844	0.491000|0.491000	0.48974|0.48974	GCG|CGG		0.433	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		82	127	82	127
AGBL2	79841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	47726176	47726176	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:47726176T>C	ENST00000525123.1	-	7	790	c.505A>G	c.(505-507)Att>Gtt	p.I169V	AGBL2_ENST00000357610.3_Missense_Mutation_p.I169V|AGBL2_ENST00000298861.4_Missense_Mutation_p.I169V|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.I131V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	169						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GTAGACAAAATGGAAAAGAGC	0.428																																																0													136.0	129.0	131.0					11																	47726176		2201	4298	6499	SO:0001583	missense	79841				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.505A>G	11.37:g.47726176T>C	ENSP00000435582:p.Ile169Val		A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	T	0.046	-1.265297	0.01433	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.33	-1.76	0.08006	.	0.728523	0.13310	N	0.397594	T	0.21022	0.0506	N	0.16903	0.455	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.12156	0.007;0.003;0.003	T	0.29792	-1.0000	10	0.02654	T	1	-1.1868	4.9566	0.14044	0.2479:0.0:0.3733:0.3788	.	131;131;169	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	V	169;169;169;131;113;113;111	ENSP00000435582:I169V;ENSP00000350228:I169V;ENSP00000298861:I169V;ENSP00000436630:I131V;ENSP00000436063:I113V;ENSP00000432264:I111V	ENSP00000298861:I169V	I	-	1	0	AGBL2	47682752	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.564000	0.05936	-0.630000	0.05567	-0.649000	0.03915	ATT		0.428	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		21	69	21	69
KIF21A	55605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	39763607	39763607	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:39763607A>G	ENST00000361418.5	-	3	389	c.374T>C	c.(373-375)aTt>aCt	p.I125T	KIF21A_ENST00000544797.2_Missense_Mutation_p.I125T|KIF21A_ENST00000395670.3_Missense_Mutation_p.I125T|KIF21A_ENST00000361961.3_Missense_Mutation_p.I125T|KIF21A_ENST00000541463.2_Missense_Mutation_p.I125T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	125	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTTTCTTCAATACTCTTAAA	0.338																																																0													79.0	76.0	77.0					12																	39763607		2202	4298	6500	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.374T>C	12.37:g.39763607A>G	ENSP00000354878:p.Ile125Thr		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.870686	0.72065	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.19	5.19	0.71726	Kinesin, motor domain (4);	0.000000	0.49305	D	0.000142	D	0.85270	0.5658	M	0.64080	1.96	0.58432	D	0.999999	D;B;D;P;B	0.60575	0.988;0.322;0.988;0.656;0.224	D;B;D;P;B	0.63957	0.92;0.328;0.92;0.609;0.217	D	0.87080	0.2165	10	0.87932	D	0	.	15.3649	0.74513	1.0:0.0:0.0:0.0	.	125;125;125;125;125	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	T	125	ENSP00000354851:I125T;ENSP00000379029:I125T;ENSP00000445606:I125T;ENSP00000354878:I125T;ENSP00000438075:I125T	ENSP00000344501:I125T	I	-	2	0	KIF21A	38049874	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.402000	0.90205	2.091000	0.63221	0.455000	0.32223	ATT		0.338	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		7	25	7	25
KIF21A	55605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	39763628	39763628	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:39763628A>C	ENST00000361418.5	-	3	368	c.353T>G	c.(352-354)gTt>gGt	p.V118G	KIF21A_ENST00000544797.2_Missense_Mutation_p.V118G|KIF21A_ENST00000395670.3_Missense_Mutation_p.V118G|KIF21A_ENST00000361961.3_Missense_Mutation_p.V118G|KIF21A_ENST00000541463.2_Missense_Mutation_p.V118G			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	118	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGGTGTTTAACAGCTCGAGA	0.348																																																0													91.0	86.0	87.0					12																	39763628		2202	4299	6501	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.353T>G	12.37:g.39763628A>C	ENSP00000354878:p.Val118Gly		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.146211	0.77888	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.19	5.19	0.71726	Kinesin, motor domain (4);	0.000000	0.43919	D	0.000502	D	0.86707	0.5997	M	0.68728	2.09	0.80722	D	1	D;D;D;D;D	0.89917	0.988;0.985;0.988;1.0;0.996	D;D;P;D;P	0.91635	0.914;0.987;0.883;0.999;0.903	D	0.88282	0.2937	10	0.87932	D	0	.	15.3649	0.74513	1.0:0.0:0.0:0.0	.	118;118;118;118;118	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	G	118	ENSP00000354851:V118G;ENSP00000379029:V118G;ENSP00000445606:V118G;ENSP00000354878:V118G;ENSP00000438075:V118G	ENSP00000344501:V118G	V	-	2	0	KIF21A	38049895	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.402000	0.90205	2.091000	0.63221	0.455000	0.32223	GTT		0.348	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		10	46	10	46
KMT2D	8085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	49431213	49431213	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:49431213G>A	ENST00000301067.7	-	34	9925	c.9926C>T	c.(9925-9927)tCc>tTc	p.S3309F	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3309	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S3305fs*20(1)|p.S3035fs*20(1)									CTGCTGTTGGGACCCAGCCAA	0.627																																																2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)											18.0	21.0	20.0					12																	49431213		2099	4237	6336	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9926C>T	12.37:g.49431213G>A	ENSP00000301067:p.Ser3309Phe		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	3.724	-0.056945	0.07317	.	.	ENSG00000167548	ENST00000301067	T	0.79352	-1.26	5.61	5.61	0.85477	.	0.216150	0.23727	N	0.045166	T	0.57636	0.2067	N	0.08118	0	0.09310	N	1	B	0.21381	0.055	B	0.19148	0.024	T	0.50668	-0.8801	10	0.87932	D	0	.	7.8009	0.29174	0.0807:0.0:0.7567:0.1626	.	3309	O14686	MLL2_HUMAN	F	3309	ENSP00000301067:S3309F	ENSP00000301067:S3309F	S	-	2	0	MLL2	47717480	0.986000	0.35501	0.459000	0.27081	0.739000	0.42172	3.478000	0.53158	2.826000	0.97356	0.655000	0.94253	TCC		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			12	6	12	6
SLITRK5	26050	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	88329160	88329160	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:88329160A>G	ENST00000325089.6	+	2	1736	c.1517A>G	c.(1516-1518)aAc>aGc	p.N506S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.N265S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	506					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.N506I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGGTCCCAAACCTCCAGCTG	0.532																																																1	Substitution - Missense(1)	lung(1)											70.0	74.0	73.0					13																	88329160		2203	4300	6503	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1517A>G	13.37:g.88329160A>G	ENSP00000366283:p.Asn506Ser		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.334001	0.41297	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58210	0.35;0.35	5.23	5.23	0.72850	.	0.051554	0.85682	D	0.000000	T	0.56499	0.1989	L	0.37750	1.13	0.43355	D	0.995421	P;P	0.45474	0.774;0.859	P;P	0.55667	0.781;0.759	T	0.53450	-0.8437	9	.	.	.	-20.4021	13.0649	0.59028	1.0:0.0:0.0:0.0	.	265;506	B4DSH5;O94991	.;SLIK5_HUMAN	S	506;265	ENSP00000366283:N506S;ENSP00000442244:N265S	.	N	+	2	0	SLITRK5	87127161	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	6.327000	0.72910	1.964000	0.57103	0.459000	0.35465	AAC		0.532	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			45	76	45	76
BMP4	652	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	54416985	54416985	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr14:54416985C>T	ENST00000245451.4	-	4	1385	c.992G>A	c.(991-993)gGc>gAc	p.G331D	MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000558984.1_Missense_Mutation_p.G331D|BMP4_ENST00000559087.1_Missense_Mutation_p.G331D|BMP4_ENST00000417573.1_Missense_Mutation_p.G331D	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	331					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GGCCTGGTAGCCTGGTGGGGC	0.572																																																0													93.0	75.0	81.0					14																	54416985		2203	4300	6503	SO:0001583	missense	652			AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.992G>A	14.37:g.54416985C>T	ENSP00000245451:p.Gly331Asp		Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427824	0.83667	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	D;D	0.84442	-1.85;-1.85	5.4	5.4	0.78164	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94755	0.8307	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95667	0.8720	10	0.87932	D	0	.	18.3479	0.90328	0.0:1.0:0.0:0.0	.	331	P12644	BMP4_HUMAN	D	331	ENSP00000245451:G331D;ENSP00000394165:G331D	ENSP00000245451:G331D	G	-	2	0	BMP4	53486735	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.644000	0.83416	2.814000	0.96858	0.563000	0.77884	GGC		0.572	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		9	67	9	67
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	3	28	3
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9057582	9057582	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:9057582G>C	ENST00000397910.4	-	3	30067	c.29864C>G	c.(29863-29865)aCc>aGc	p.T9955S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9957	Ser-rich.|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)				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						GGTGGTGATGGTCATTTGTGT	0.498																																																0													258.0	252.0	254.0					19																	9057582		1987	4174	6161	SO:0001583	missense	94025			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.29864C>G	19.37:g.9057582G>C	ENSP00000381008:p.Thr9955Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	9.882	1.201810	0.22121	.	.	ENSG00000181143	ENST00000397910	T	0.02369	4.32	2.5	2.5	0.30297	.	.	.	.	.	T	0.05502	0.0145	L	0.27053	0.805	.	.	.	D	0.60160	0.987	P	0.58970	0.849	T	0.28459	-1.0043	8	0.87932	D	0	.	8.6186	0.33847	0.0:0.0:1.0:0.0	.	9955	B5ME49	.	S	9955	ENSP00000381008:T9955S	ENSP00000381008:T9955S	T	-	2	0	MUC16	8918582	0.000000	0.05858	0.017000	0.16124	0.501000	0.33797	-0.096000	0.11059	1.708000	0.51301	0.460000	0.39030	ACC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		54	300	54	300
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9068570	9068570	+	Silent	SNP	T	T	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:9068570T>A	ENST00000397910.4	-	3	19079	c.18876A>T	c.(18874-18876)acA>acT	p.T6292T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6294	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)				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						GCATTGTGTGTGTATCTGTGG	0.453																																																0													215.0	203.0	207.0					19																	9068570		2016	4194	6210	SO:0001819	synonymous_variant	94025			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.18876A>T	19.37:g.9068570T>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	165	28	165
GRIN2D	2906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	48945567	48945567	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:48945567C>A	ENST00000263269.3	+	12	2689	c.2601C>A	c.(2599-2601)caC>caA	p.H867Q		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	867					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGGGAGCACCTGGTGTACT	0.647																																																0													103.0	104.0	104.0					19																	48945567		2203	4300	6503	SO:0001583	missense	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2601C>A	19.37:g.48945567C>A	ENSP00000263269:p.His867Gln			Missense_Mutation	SNP	ENST00000263269.3	37	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	c	17.32	3.358961	0.61403	.	.	ENSG00000105464	ENST00000263269	T	0.56103	0.48	4.03	1.78	0.24846	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	L	0.48362	1.52	0.51012	D	0.999906	D	0.71674	0.998	D	0.76071	0.987	T	0.58880	-0.7558	10	0.87932	D	0	.	7.5122	0.27579	0.0:0.712:0.0:0.288	.	867	O15399	NMDE4_HUMAN	Q	867	ENSP00000263269:H867Q	ENSP00000263269:H867Q	H	+	3	2	GRIN2D	53637379	0.996000	0.38824	1.000000	0.80357	0.828000	0.46876	0.502000	0.22594	0.452000	0.26830	0.450000	0.29827	CAC		0.647	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			53	46	53	46
PTPRH	5794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	55693430	55693430	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:55693430A>T	ENST00000376350.3	-	19	3174	c.3152T>A	c.(3151-3153)tTt>tAt	p.F1051Y	SYT5_ENST00000590851.1_5'Flank|SYT5_ENST00000537500.1_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.F873Y|SYT5_ENST00000354308.3_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1051	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTTCCTTACAAAGCTGAAGGG	0.622																																																0													108.0	106.0	107.0					19																	55693430		2203	4300	6503	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3152T>A	19.37:g.55693430A>T	ENSP00000365528:p.Phe1051Tyr		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	A	0.890	-0.725722	0.03158	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.83591	-1.74;-1.74	4.86	1.5	0.22942	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.426251	0.17423	N	0.174763	T	0.57051	0.2027	N	0.04355	-0.22	0.09310	N	1	B;B	0.22541	0.071;0.071	B;B	0.22152	0.038;0.038	T	0.48937	-0.8990	10	0.02654	T	1	.	7.0698	0.25171	0.7561:0.0:0.0854:0.1585	.	873;1051	C9JCH2;Q9HD43	.;PTPRH_HUMAN	Y	1051;873	ENSP00000365528:F1051Y;ENSP00000263434:F873Y	ENSP00000263434:F873Y	F	-	2	0	PTPRH	60385242	0.026000	0.19158	0.000000	0.03702	0.057000	0.15508	1.026000	0.30103	-0.017000	0.14103	0.529000	0.55759	TTT		0.622	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			36	93	36	93
NLRP9	338321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	56244181	56244181	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:56244181G>A	ENST00000332836.2	-	2	1043	c.1016C>T	c.(1015-1017)aCg>aTg	p.T339M		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	339	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.T339M(2)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAACCAGCACGTAAAGGGATT	0.413																																																2	Substitution - Missense(2)	breast(1)|kidney(1)											103.0	98.0	100.0					19																	56244181		2203	4300	6503	SO:0001583	missense	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1016C>T	19.37:g.56244181G>A	ENSP00000331857:p.Thr339Met		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	4.798	0.148339	0.09134	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.83992	-1.79	2.56	0.451	0.16629	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.54078	0.1836	N	0.01168	-0.975	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.47935	-0.9078	9	0.48119	T	0.1	.	2.2957	0.04150	0.5138:0.0:0.2668:0.2194	.	339	Q7RTR0	NALP9_HUMAN	M	339	ENSP00000331857:T339M	ENSP00000331857:T339M	T	-	2	0	NLRP9	60935993	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.717000	0.25851	0.027000	0.15297	-0.304000	0.09214	ACG		0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		39	36	39	36
PLEKHN1	84069	hgsc.bcm.edu;broad.mit.edu	37	1	907741	907741	+	Silent	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:907741C>T	ENST00000379409.2	+	9	1125	c.1095C>T	c.(1093-1095)cgC>cgT	p.R365R	PLEKHN1_ENST00000379410.3_Silent_p.R313R|PLEKHN1_ENST00000379407.3_Silent_p.R325R			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	365	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGTGCCTTCGCGCTGTCACCC	0.677																																																0													20.0	19.0	19.0					1																	907741		2194	4290	6484	SO:0001819	synonymous_variant	84069			AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1095C>T	1.37:g.907741C>T			Q494U2|Q5SV98|Q9H0M7	Silent	SNP	ENST00000379409.2	37																																																																																					0.677	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		5	19	5	19
PKLR	5313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	155261708	155261708	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:155261708C>T	ENST00000342741.4	-	10	1495	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	PKLR_ENST00000392414.3_Missense_Mutation_p.R455Q	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	486			R -> W (in PKRD; frequent mutation; no conformational change; dbSNP:rs116100695). {ECO:0000269|PubMed:8483951, ECO:0000269|PubMed:9482576, ECO:0000269|PubMed:9827908}.		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGTCGGTACCGAGACAGAAG	0.577																																																0			GRCh37	CM061899	PKLR	M							47.0	44.0	45.0					1																	155261708		2203	4300	6503	SO:0001583	missense	5313			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1457G>A	1.37:g.155261708C>T	ENSP00000339933:p.Arg486Gln		O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837117	0.50951	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99388	-5.81;-5.81	4.85	0.829	0.18847	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.183484	0.45867	N	0.000337	D	0.98251	0.9421	M	0.91510	3.215	0.43408	D	0.995542	B;B	0.31931	0.347;0.347	B;B	0.35727	0.209;0.209	D	0.96830	0.9610	10	0.66056	D	0.02	-12.0621	10.9328	0.47228	0.0:0.7545:0.0:0.2455	.	486;477	P30613;B1AVT1	KPYR_HUMAN;.	Q	511;455;486;400	ENSP00000376214:R455Q;ENSP00000339933:R486Q	ENSP00000271946:R400Q	R	-	2	0	PKLR	153528332	0.989000	0.36119	0.969000	0.41365	0.747000	0.42532	2.507000	0.45442	0.062000	0.16340	-1.305000	0.01319	CGG		0.577	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		20	91	20	91
IGSF8	93185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	160064985	160064985	+	Missense_Mutation	SNP	C	C	T	rs190351074		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:160064985C>T	ENST00000368086.1	-	2	332	c.116G>A	c.(115-117)cGc>cAc	p.R39H	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.R39H			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	39	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R39L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCAGCCACGCGGTACAAGGG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		19162	0.001		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	lung(2)											35.0	37.0	36.0					1																	160064985		2203	4300	6503	SO:0001583	missense	93185			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.116G>A	1.37:g.160064985C>T	ENSP00000357065:p.Arg39His		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	CCDS1195.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.9	4.580581	0.86645	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.64991	-0.13;-0.13;-0.13	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.76793	0.4037	M	0.78049	2.395	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.79664	-0.1709	10	0.72032	D	0.01	-9.6628	17.8546	0.88759	0.0:1.0:0.0:0.0	.	39	Q969P0	IGSF8_HUMAN	H	39	ENSP00000316664:R39H;ENSP00000357065:R39H;ENSP00000397464:R39H	ENSP00000316664:R39H	R	-	2	0	IGSF8	158331609	1.000000	0.71417	0.975000	0.42487	0.527000	0.34593	7.444000	0.80532	2.489000	0.83994	0.563000	0.77884	CGC		0.617	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		10	47	10	47
SRMS	6725	hgsc.bcm.edu;broad.mit.edu	37	20	62178604	62178604	+	Silent	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr20:62178604A>G	ENST00000217188.1	-	1	253	c.213T>C	c.(211-213)agT>agC	p.S71S		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	71	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCGGCGGACACTCAGCTCCC	0.697																																																0													114.0	118.0	116.0					20																	62178604		2198	4286	6484	SO:0001819	synonymous_variant	6725				CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.213T>C	20.37:g.62178604A>G				Silent	SNP	ENST00000217188.1	37	CCDS13525.1																																																																																				0.697	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		7	7	7	7
TIMP3	7078	hgsc.bcm.edu;ucsc.edu	37	22	33255348	33255348	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr22:33255348A>G	ENST00000266085.6	+	5	921	c.620A>G	c.(619-621)aAt>aGt	p.N207S	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	207					cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						AGCATCATCAATGCCACAGAC	0.592																																																0													50.0	40.0	44.0					22																	33255348		2203	4300	6503	SO:0001583	missense	7078				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.620A>G	22.37:g.33255348A>G	ENSP00000266085:p.Asn207Ser		B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Missense_Mutation	SNP	ENST00000266085.6	37	CCDS13911.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316838	0.60524	.	.	ENSG00000100234	ENST00000266085;ENST00000538671	D	0.94931	-3.56	3.91	2.85	0.33270	.	0.217153	0.45867	N	0.000334	D	0.91202	0.7228	M	0.63428	1.95	0.80722	D	1	P	0.35155	0.487	B	0.30316	0.114	D	0.88209	0.2889	10	0.72032	D	0.01	-15.4284	9.4941	0.38978	0.8416:0.0:0.0:0.1584	.	207	P35625	TIMP3_HUMAN	S	207;141	ENSP00000266085:N207S	ENSP00000266085:N207S	N	+	2	0	TIMP3	31585348	1.000000	0.71417	0.947000	0.38551	0.984000	0.73092	7.323000	0.79105	0.541000	0.28827	0.459000	0.35465	AAT		0.592	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362		4	34	4	34
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	141739804	141739804	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:141739804G>A	ENST00000389484.3	-	18	3783	c.2812C>T	c.(2812-2814)Cgt>Tgt	p.R938C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	938	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGAATGCAACGCCCATTTCCG	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													126.0	112.0	117.0					2																	141739804		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2812C>T	2.37:g.141739804G>A	ENSP00000374135:p.Arg938Cys		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028315	0.75390	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96136	-3.92;-3.92	5.43	5.43	0.79202	.	0.000000	0.64402	U	0.000001	D	0.97974	0.9333	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.87578	0.998;0.861	D	0.98595	1.0656	10	0.72032	D	0.01	.	19.2402	0.93879	0.0:0.0:1.0:0.0	.	121;938	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	C	938;876;83	ENSP00000374135:R938C;ENSP00000413239:R83C	ENSP00000374135:R938C	R	-	1	0	LRP1B	141456274	1.000000	0.71417	0.988000	0.46212	0.895000	0.52256	5.944000	0.70219	2.538000	0.85594	0.655000	0.94253	CGT		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		19	94	19	94
ACVR2A	92	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	148653873	148653873	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:148653873C>T	ENST00000241416.7	+	2	695	c.59C>T	c.(58-60)gCt>gTt	p.A20V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.A20V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	20					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CTTATAGGTGCTATACTTGGT	0.333																																																0													77.0	81.0	79.0					2																	148653873		2203	4300	6503	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.59C>T	2.37:g.148653873C>T	ENSP00000241416:p.Ala20Val		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271727	0.80469	.	.	ENSG00000121989	ENST00000241416;ENST00000404590	D;D	0.83755	-1.76;-1.76	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	L	0.38531	1.155	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.70876	-0.4753	10	0.19590	T	0.45	.	18.6722	0.91516	0.0:1.0:0.0:0.0	.	20	P27037	AVR2A_HUMAN	V	20	ENSP00000241416:A20V;ENSP00000384338:A20V	ENSP00000241416:A20V	A	+	2	0	ACVR2A	148370343	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.769000	0.85360	2.398000	0.81561	0.655000	0.94253	GCT		0.333	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		14	76	14	76
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			43	69	43	69
SMARCC1	6599	hgsc.bcm.edu;broad.mit.edu	37	3	47719787	47719787	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr3:47719787C>T	ENST00000254480.5	-	16	1591	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	491	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CATAAAATTTCGATATGCCAA	0.388																																																0													106.0	102.0	103.0					3																	47719787		2203	4300	6503	SO:0001583	missense	6599			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1472G>A	3.37:g.47719787C>T	ENSP00000254480:p.Arg491Gln		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	36	5.879763	0.97062	.	.	ENSG00000173473	ENST00000254480	D	0.92495	-3.05	5.76	5.76	0.90799	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.057129	0.64402	D	0.000001	D	0.97926	0.9318	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99133	1.0853	10	0.87932	D	0	-11.7739	18.5388	0.91020	0.0:1.0:0.0:0.0	.	491	Q92922	SMRC1_HUMAN	Q	491	ENSP00000254480:R491Q	ENSP00000254480:R491Q	R	-	2	0	SMARCC1	47694791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.580000	0.82523	2.724000	0.93272	0.585000	0.79938	CGA		0.388	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			9	166	9	166
ZBTB49	166793	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	4304568	4304568	+	Silent	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:4304568G>A	ENST00000337872.4	+	3	1126	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	ZBTB49_ENST00000355834.3_Silent_p.K335K|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GTTTGACAAAGAGGTTGGAAT	0.398																																																0													61.0	61.0	61.0					4																	4304568		2203	4300	6503	SO:0001819	synonymous_variant	166793			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1005G>A	4.37:g.4304568G>A			Q59FJ4|Q5EBN0|Q8TB80	Silent	SNP	ENST00000337872.4	37	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	3.815	-0.038847	0.07497	.	.	ENSG00000168826	ENST00000504302	.	.	.	5.57	1.92	0.25849	.	.	.	.	.	T	0.35885	0.0947	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	.	9.5368	0.39226	0.379:0.0:0.621:0.0	.	.	.	.	K	72	.	.	R	+	2	0	ZBTB49	4355469	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.790000	0.26900	0.414000	0.25790	-0.218000	0.12543	AGA		0.398	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		24	38	24	38
GUF1	60558	hgsc.bcm.edu;broad.mit.edu	37	4	44693681	44693681	+	Splice_Site	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:44693681A>G	ENST00000281543.5	+	13	1673		c.e13-1		GUF1_ENST00000506793.1_Splice_Site|RP11-700J17.1_ENST00000610260.1_RNA	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTCCCTTTTTAGGCTCGAAGA	0.299																																																0													85.0	94.0	91.0					4																	44693681		2201	4281	6482	SO:0001630	splice_region_variant	60558				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1480-1A>G	4.37:g.44693681A>G				Splice_Site	SNP	ENST00000281543.5	37	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104478	0.77096	.	.	ENSG00000151806	ENST00000281543	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3718	0.66846	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUF1	44388438	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	8.799000	0.91895	2.043000	0.60533	0.533000	0.62120	.		0.299	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927	Intron	10	160	10	160
SLC10A6	345274	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	87770048	87770048	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:87770048C>T	ENST00000273905.6	-	1	368	c.221G>A	c.(220-222)tGc>tAc	p.C74Y	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	74					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CCCAAACTGGCAGAGCAGTCC	0.542																																																0													73.0	63.0	66.0					4																	87770048		2203	4300	6503	SO:0001583	missense	345274			AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.221G>A	4.37:g.87770048C>T	ENSP00000273905:p.Cys74Tyr		Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210805	0.79240	.	.	ENSG00000145283	ENST00000273905	T	0.11277	2.79	5.85	5.01	0.66863	.	0.067487	0.64402	D	0.000008	T	0.36663	0.0975	M	0.83774	2.66	0.42385	D	0.992504	D	0.89917	1.0	D	0.81914	0.995	T	0.37314	-0.9711	10	0.87932	D	0	-17.6765	15.0242	0.71656	0.0:0.8574:0.1426:0.0	.	74	Q3KNW5	SOAT_HUMAN	Y	74	ENSP00000273905:C74Y	ENSP00000273905:C74Y	C	-	2	0	SLC10A6	87989072	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.977000	0.70492	1.452000	0.47756	0.655000	0.94253	TGC		0.542	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		7	42	7	42
NPY1R	4886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	164246852	164246852	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:164246852T>C	ENST00000296533.2	-	3	1289	c.758A>G	c.(757-759)tAc>tGc	p.Y253C	NPY1R_ENST00000509586.1_Missense_Mutation_p.Y10C	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	253					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACTGGACCTGTACTTATTGTC	0.368																																																0													86.0	81.0	82.0					4																	164246852		2203	4300	6503	SO:0001583	missense	4886				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.758A>G	4.37:g.164246852T>C	ENSP00000354652:p.Tyr253Cys		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	T	9.463	1.093500	0.20471	.	.	ENSG00000164128	ENST00000296533;ENST00000509586;ENST00000504391;ENST00000512819	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.84	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.151795	0.45361	N	0.000369	T	0.29882	0.0747	L	0.40543	1.245	0.50632	D	0.999887	B	0.06786	0.001	B	0.08055	0.003	T	0.04281	-1.0963	10	0.38643	T	0.18	.	11.8057	0.52155	0.0:0.0683:0.0:0.9317	.	253	P25929	NPY1R_HUMAN	C	253;10;10;75	ENSP00000354652:Y253C;ENSP00000427284:Y10C;ENSP00000422963:Y10C;ENSP00000421618:Y75C	ENSP00000354652:Y253C	Y	-	2	0	NPY1R	164466302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.388000	0.44398	1.044000	0.40200	0.533000	0.62120	TAC		0.368	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			16	36	16	36
NOTCH4	4855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	32188018	32188018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:32188018G>T	ENST00000375023.3	-	7	1341	c.1203C>A	c.(1201-1203)tgC>tgA	p.C401*		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	401	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATCCCCATGGCACGGCTGGC	0.622																																																0													71.0	71.0	71.0					6																	32188018		2203	4300	6503	SO:0001587	stop_gained	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1203C>A	6.37:g.32188018G>T	ENSP00000364163:p.Cys401*		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Nonsense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526074	0.96431	.	.	ENSG00000204301	ENST00000375023	.	.	.	4.16	3.29	0.37713	.	0.000000	0.44285	D	0.000473	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6396	0.39831	0.1043:0.0:0.8957:0.0	.	.	.	.	X	401	.	ENSP00000364163:C401X	C	-	3	2	NOTCH4	32295996	1.000000	0.71417	0.952000	0.39060	0.529000	0.34654	2.274000	0.43390	0.952000	0.37798	0.305000	0.20034	TGC		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			17	95	17	95
NCOA7	135112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	126210341	126210341	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:126210341T>C	ENST00000368357.3	+	10	1493	c.1141T>C	c.(1141-1143)Tcc>Ccc	p.S381P	NCOA7_ENST00000229634.9_Missense_Mutation_p.S266P|NCOA7_ENST00000392477.2_Missense_Mutation_p.S381P	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	381					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TAGGGAGACATCCCATGGTTC	0.458																																																0													64.0	65.0	65.0					6																	126210341		2203	4300	6503	SO:0001583	missense	135112			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1141T>C	6.37:g.126210341T>C	ENSP00000357341:p.Ser381Pro		B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	T	2.855	-0.237459	0.05944	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.30182	2.74;2.74;2.74;1.54	4.86	-8.06	0.01102	.	1.075970	0.07118	N	0.843320	T	0.04048	0.0113	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35325	-0.9793	10	0.35671	T	0.21	.	4.344	0.11124	0.4314:0.096:0.3739:0.0987	.	370;370;381	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	P	381;381;266;179	ENSP00000357341:S381P;ENSP00000376269:S381P;ENSP00000229634:S266P;ENSP00000389186:S179P	ENSP00000229634:S266P	S	+	1	0	NCOA7	126252034	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.755000	0.04782	-1.195000	0.02680	-1.263000	0.01449	TCC		0.458	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		9	37	9	37
NRCAM	4897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	107823139	107823139	+	Splice_Site	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr7:107823139G>A	ENST00000425651.2	-	20	2529	c.2530C>T	c.(2530-2532)Ctc>Ttc	p.L844F	NRCAM_ENST00000379028.3_Splice_Site_p.L844F|NRCAM_ENST00000413765.2_Splice_Site_p.L825F|NRCAM_ENST00000379022.4_Splice_Site_p.L844F|NRCAM_ENST00000379024.4_Splice_Site_p.L825F|NRCAM_ENST00000351718.4_Splice_Site_p.L828F	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	844					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CATCACTTACGGTCTTCTCCA	0.522																																																0													72.0	69.0	70.0					7																	107823139		2203	4300	6503	SO:0001630	splice_region_variant	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2530+1C>T	7.37:g.107823139G>A			A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Splice_Site	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544670	0.45280	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.59083	0.29;0.57;0.29;0.35;0.29;0.33	6.05	5.07	0.68467	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.139857	0.48767	D	0.000170	T	0.34861	0.0912	N	0.21545	0.675	0.80722	D	1	B;B;B;B;B	0.30870	0.298;0.225;0.152;0.056;0.045	B;B;B;B;B	0.26517	0.07;0.063;0.051;0.051;0.011	T	0.23332	-1.0191	9	.	.	.	.	4.0516	0.09798	0.3063:0.0:0.6937:0.0	.	844;825;825;828;844	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	F	844;844;825;844;828;825;844;844	ENSP00000368314:L844F;ENSP00000407858:L825F;ENSP00000325269:L828F;ENSP00000368310:L825F;ENSP00000401244:L844F;ENSP00000368308:L844F	.	L	-	1	0	NRCAM	107610375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.515000	0.45512	2.866000	0.98385	0.650000	0.86243	CTC		0.522	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	Missense_Mutation	22	40	22	40
CCDC136	64753	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	128432468	128432468	+	Start_Codon_SNP	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr7:128432468G>A	ENST00000297788.4	+	1	370	c.3G>A	c.(1-3)atG>atA	p.M1I	CCDC136_ENST00000464832.1_Missense_Mutation_p.M51I|CCDC136_ENST00000487361.1_Start_Codon_SNP_p.M1I|CCDC136_ENST00000378685.4_Missense_Mutation_p.M51I	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GACGGGGGATGCAAGCTATGG	0.582																																																0													94.0	111.0	106.0					7																	128432468		1929	4115	6044	SO:0001582	initiator_codon_variant	64753				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3G>A	7.37:g.128432468G>A	ENSP00000297788:p.Met1Ile		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612217	0.66672	.	.	ENSG00000128596	ENST00000485998;ENST00000459946;ENST00000378685;ENST00000464832;ENST00000472049;ENST00000488925;ENST00000487361;ENST00000297788	T;T;T;T	0.43294	0.96;0.95;0.99;1.49	5.04	4.15	0.48705	.	0.386496	0.25447	N	0.030608	T	0.33030	0.0849	.	.	.	0.21147	N	0.999775	B;P;B	0.38677	0.206;0.642;0.103	B;B;B	0.38458	0.085;0.274;0.085	T	0.33854	-0.9852	9	0.87932	D	0	-1.9024	8.4649	0.32949	0.1021:0.0:0.8979:0.0	.	1;1;51	C9JE17;Q96JN2;Q96JN2-3	.;CC136_HUMAN;.	I	1;1;51;51;1;1;1;1	ENSP00000367956:M51I;ENSP00000419515:M51I;ENSP00000420509:M1I;ENSP00000297788:M1I	ENSP00000297788:M1I	M	+	3	0	CCDC136	128219704	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	1.471000	0.35365	2.729000	0.93468	0.655000	0.94253	ATG		0.582	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	Missense_Mutation	16	87	16	87
MUC2	4583	broad.mit.edu;ucsc.edu	37	11	1086051	1086051	+	Missense_Mutation	SNP	C	C	T	rs72655318	byFrequency	TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:1086051C>T	ENST00000441003.2	+	22	2918	c.2891C>T	c.(2890-2892)aCg>aTg	p.T964M	MUC2_ENST00000359061.5_Missense_Mutation_p.T964M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	964	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAGTCCAGCACGGGCATCATC	0.632													C|||	3	0.000599042	0.0	0.0014	5008	,	,		14496	0.0		0.0	False		,,,				2504	0.002															0								C	MET/THR	3,4295		0,3,2146	42.0	49.0	47.0		2891	-5.8	0.0	11	dbSNP_130	47	10,8472		0,10,4231	yes	missense	MUC2	NM_002457.2	81	0,13,6377	TT,TC,CC		0.1179,0.0698,0.1017	possibly-damaging	964/2813	1086051	13,12767	2149	4241	6390	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2891C>T	11.37:g.1086051C>T	ENSP00000415183:p.Thr964Met		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	c	11.06	1.528400	0.27299	6.98E-4	0.001179	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.60299	0.2;0.2	3.94	-5.81	0.02340	.	3.061800	0.02567	N	0.097439	T	0.28167	0.0695	N	0.14661	0.345	0.09310	N	1	P	0.39759	0.687	B	0.27715	0.082	T	0.26608	-1.0098	10	0.46703	T	0.11	.	1.3762	0.02221	0.2406:0.2069:0.0983:0.4541	.	964	E7EUV1	.	M	964	ENSP00000415183:T964M;ENSP00000351956:T964M	ENSP00000351956:T964M	T	+	2	0	MUC2	1076051	0.000000	0.05858	0.000000	0.03702	0.906000	0.53458	-0.247000	0.08866	-0.853000	0.04136	-0.348000	0.07805	ACG		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		20	30	20	30
ANO8	57719	broad.mit.edu;ucsc.edu	37	19	17438523	17438523	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:17438523C>T	ENST00000159087.4	-	14	2551	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	798					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCTTTCCACGCGCTGGCCGAA	0.682																																																0													35.0	39.0	38.0					19																	17438523		2203	4299	6502	SO:0001583	missense	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2393G>A	19.37:g.17438523C>T	ENSP00000159087:p.Arg798His		A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341789	0.81911	.	.	ENSG00000074855	ENST00000159087	T	0.69806	-0.43	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	M	0.88377	2.95	0.42380	D	0.992483	D	0.89917	1.0	D	0.91635	0.999	D	0.87868	0.2669	10	0.87932	D	0	.	15.9256	0.79615	0.0:1.0:0.0:0.0	.	798	Q9HCE9	ANO8_HUMAN	H	798	ENSP00000159087:R798H	ENSP00000159087:R798H	R	-	2	0	ANO8	17299523	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.603000	0.82811	2.364000	0.80123	0.436000	0.28706	CGC		0.682	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		26	41	26	41
FFAR1	2864	broad.mit.edu;ucsc.edu	37	19	35842815	35842815	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:35842815T>C	ENST00000246553.2	+	1	371	c.361T>C	c.(361-363)Tgc>Cgc	p.C121R		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	121					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CCGGAGGCCGTGCTATTCCTG	0.677																																																0													58.0	59.0	59.0					19																	35842815		2203	4300	6503	SO:0001583	missense	2864			AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"""GPCR / Class A : Fatty acid receptors"""	4498	protein-coding gene	gene with protein product		603820	"""G protein-coupled receptor 40"""	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.361T>C	19.37:g.35842815T>C	ENSP00000246553:p.Cys121Arg		Q0VAS2|Q4VBL4	Missense_Mutation	SNP	ENST00000246553.2	37	CCDS12458.1	.	.	.	.	.	.	.	.	.	.	T	0.050	-1.252433	0.01469	.	.	ENSG00000126266	ENST00000246553	T	0.30981	1.51	4.23	-0.893	0.10567	GPCR, rhodopsin-like superfamily (1);	0.511281	0.18918	N	0.127543	T	0.06872	0.0175	N	0.00707	-1.245	0.21256	N	0.999749	B	0.02656	0.0	B	0.01281	0.0	T	0.33445	-0.9868	10	0.21540	T	0.41	-8.6957	4.5376	0.12042	0.1714:0.2127:0.0:0.6159	.	121	O14842	FFAR1_HUMAN	R	121	ENSP00000246553:C121R	ENSP00000246553:C121R	C	+	1	0	FFAR1	40534655	0.000000	0.05858	0.160000	0.22671	0.012000	0.07955	-0.582000	0.05814	-0.198000	0.10333	-0.366000	0.07423	TGC		0.677	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303		11	49	11	49
FHDC1	85462	broad.mit.edu;ucsc.edu	37	4	153897446	153897446	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:153897446G>C	ENST00000511601.1	+	12	3191	c.3003G>C	c.(3001-3003)aaG>aaC	p.K1001N	FHDC1_ENST00000260008.3_Missense_Mutation_p.K1001N			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1001									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGGAAAATAAGACCTGCCGCG	0.632																																																0													35.0	44.0	41.0					4																	153897446		2203	4300	6503	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3003G>C	4.37:g.153897446G>C	ENSP00000427567:p.Lys1001Asn			Missense_Mutation	SNP	ENST00000511601.1	37	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837581	0.32513	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.47528	0.84;0.84	5.28	4.44	0.53790	.	0.946530	0.09034	N	0.858230	T	0.57169	0.2035	L	0.32530	0.975	0.47819	D	0.999526	D	0.89917	1.0	D	0.91635	0.999	T	0.41360	-0.9513	10	0.46703	T	0.11	.	8.7212	0.34441	0.2294:0.0:0.7706:0.0	.	1001	Q9C0D6	FHDC1_HUMAN	N	1001	ENSP00000427567:K1001N;ENSP00000260008:K1001N	ENSP00000260008:K1001N	K	+	3	2	FHDC1	154116896	1.000000	0.71417	0.123000	0.21794	0.065000	0.16274	3.197000	0.51028	1.233000	0.43693	-0.137000	0.14449	AAG		0.632	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		4	37	4	37
CENPF	1063	broad.mit.edu;ucsc.edu	37	1	214803886	214803886	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:214803886C>T	ENST00000366955.3	+	9	1372	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.R402S(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGAGCTCTCCCGTCAACAGCG	0.537																																					Colon(80;575 1284 11000 14801 43496)											1	Substitution - Missense(1)	lung(1)											224.0	207.0	213.0					1																	214803886		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1204C>T	1.37:g.214803886C>T	ENSP00000355922:p.Arg402Cys		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031891	0.35893	.	.	ENSG00000117724	ENST00000366955	T	0.78816	-1.21	5.46	3.6	0.41247	.	0.208186	0.24412	N	0.038757	T	0.61739	0.2371	.	.	.	0.43902	D	0.996533	P	0.41313	0.745	B	0.28305	0.088	T	0.58945	-0.7546	9	0.39692	T	0.17	.	8.7431	0.34569	0.0:0.7447:0.0:0.2553	.	402	P49454	CENPF_HUMAN	C	402	ENSP00000355922:R402C	ENSP00000355922:R402C	R	+	1	0	CENPF	212870509	0.790000	0.28787	0.151000	0.22473	0.169000	0.22640	1.476000	0.35420	0.788000	0.33755	0.655000	0.94253	CGT		0.537	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		37	246	37	246
SIMC1	375484	broad.mit.edu;ucsc.edu	37	5	175716891	175716891	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr5:175716891C>T	ENST00000443967.1	+	4	714	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.R122W|SIMC1_ENST00000503595.1_3'UTR			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	103							SUMO polymer binding (GO:0032184)										GCCTACAGCACGGAGAATCAT	0.522																																																0													99.0	91.0	94.0					5																	175716891		2203	4300	6503	SO:0001583	missense	375484			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.307C>T	5.37:g.175716891C>T	ENSP00000406571:p.Arg103Trp		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37		.	.	.	.	.	.	.	.	.	.	C	5.224	0.226916	0.09916	.	.	ENSG00000170085	ENST00000443967;ENST00000429602;ENST00000377277	T;T	0.34072	2.14;1.38	4.31	2.43	0.29744	.	1.126870	0.06881	N	0.802559	T	0.40247	0.1109	.	.	.	0.09310	N	1	D;D	0.67145	0.996;0.993	P;P	0.50708	0.648;0.453	T	0.34079	-0.9843	9	0.87932	D	0	-0.3351	6.4836	0.22077	0.2074:0.5918:0.2008:0.0	.	122;103	B4DRM7;Q8NDZ2	.;CE025_HUMAN	W	103;122;14	ENSP00000406571:R103W;ENSP00000410552:R122W	ENSP00000366489:R14W	R	+	1	2	C5orf25	175649497	0.000000	0.05858	0.118000	0.21660	0.009000	0.06853	0.522000	0.22909	2.227000	0.72691	0.603000	0.83216	CGG		0.522	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		15	98	15	98
IL18	3606	broad.mit.edu;ucsc.edu	37	11	112025712	112025712	+	Missense_Mutation	SNP	G	G	A	rs61734549	byFrequency	TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:112025712G>A	ENST00000280357.7	-	2	284	c.65C>T	c.(64-66)aCg>aTg	p.T22M	SDHD_ENST00000532699.1_Intron|IL18_ENST00000528832.1_Missense_Mutation_p.T22M|IL18_ENST00000533858.1_5'UTR|IL18_ENST00000524595.1_Missense_Mutation_p.T22M	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18	22					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cellular response to organic cyclic compound (GO:0071407)|chemokine biosynthetic process (GO:0042033)|granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0042253)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma biosynthetic process (GO:0042095)|interleukin-13 biosynthetic process (GO:0042231)|interleukin-2 biosynthetic process (GO:0042094)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|natural killer cell activation (GO:0030101)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of tissue remodeling (GO:0034105)|regulation of cell adhesion (GO:0030155)|sleep (GO:0030431)|T-helper 1 type immune response (GO:0042088)|type 2 immune response (GO:0042092)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		AAAGTAAAGCGTATTGTCAAT	0.343													G|||	2	0.000399361	0.0	0.0	5008	,	,		20716	0.0		0.002	False		,,,				2504	0.0															0								G	MET/THR	0,3692		0,0,1846	131.0	119.0	123.0		65	1.9	0.1	11	dbSNP_129	123	3,8187		0,3,4092	yes	missense	IL18	NM_001562.3	81	0,3,5938	AA,AG,GG		0.0366,0.0,0.0252	probably-damaging	22/194	112025712	3,11879	1846	4095	5941	SO:0001583	missense	3606			U90434	CCDS44731.1, CCDS58180.1	11q22.2-q22.3	2014-04-04	2014-04-04		ENSG00000150782	ENSG00000150782		"""Interleukins and interleukin receptors"""	5986	protein-coding gene	gene with protein product	"""interferon-gamma-inducing factor"""	600953	"""interleukin 18 (interferon-gamma-inducing factor)"""			7477296, 9693051	Standard	NM_001562		Approved	IGIF, IL1F4, IL-1g, IL-18	uc001pnb.2	Q14116	OTTHUMG00000167006	ENST00000280357.7:c.65C>T	11.37:g.112025712G>A	ENSP00000280357:p.Thr22Met		O75599|Q6FGY3|Q6WWJ7	Missense_Mutation	SNP	ENST00000280357.7	37	CCDS44731.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	7.864	0.726786	0.15439	0.0	3.66E-4	ENSG00000150782	ENST00000280357;ENST00000524595;ENST00000528832	.	.	.	4.76	1.87	0.25490	.	0.333086	0.25717	N	0.028774	T	0.48607	0.1509	M	0.68952	2.095	0.09310	N	1	D;D	0.76494	0.998;0.999	P;P	0.55011	0.702;0.766	T	0.35076	-0.9803	9	0.46703	T	0.11	-2.5511	6.8127	0.23812	0.2808:0.0:0.7192:0.0	.	22;22	Q6WWJ7;Q14116	.;IL18_HUMAN	M	22	.	ENSP00000280357:T22M	T	-	2	0	IL18	111530922	0.119000	0.22226	0.059000	0.19551	0.014000	0.08584	0.758000	0.26447	0.322000	0.23283	0.491000	0.48974	ACG		0.343	IL18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392409.1	NM_001562		10	36	10	36
DGKH	160851	broad.mit.edu;hgsc.bcm.edu	37	13	42783569	42783569	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:42783569delA	ENST00000337343.4	+	23	2839	c.2818delA	c.(2818-2820)aaafs	p.K940fs	DGKH_ENST00000540693.1_Frame_Shift_Del_p.K940fs|DGKH_ENST00000261491.5_Frame_Shift_Del_p.K940fs|DGKH_ENST00000379274.2_Frame_Shift_Del_p.K804fs|DGKH_ENST00000538674.1_Frame_Shift_Del_p.K695fs|DGKH_ENST00000536612.1_Frame_Shift_Del_p.K804fs|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	940					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATTGTGCACAAAAACAGAGC	0.378																																																0													87.0	80.0	82.0					13																	42783569		2203	4300	6503	SO:0001589	frameshift_variant	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2818delA	13.37:g.42783569delA	ENSP00000337572:p.Lys940fs		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Frame_Shift_Del	DEL	ENST00000337343.4	37	CCDS9381.1																																																																																				0.378	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		40	49	40	49
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76855040	76855046	+	Frame_Shift_Del	DEL	TTTCTTC	TTTCTTC	-			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chrX:76855040_76855046delTTTCTTC	ENST00000373344.5	-	25	6004_6010	c.5790_5796delGAAGAAA	c.(5788-5796)aagaagaaafs	p.KKK1930fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KKK1892fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1930	Poly-Lys.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTTCCCTTTTTTCTTCTTTCTaaaaa	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5790_5796delGAAGAAA	X.37:g.76855040_76855046delTTTCTTC	ENSP00000362441:p.Lys1930fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		63	73	63	73
