#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	59	0	0	0	1	0	4	59				
ZC3H13	23091	broad.mit.edu	37	13	46543102	46543102	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr13:46543102C>T	ENST00000242848.4	-	14	3925	c.3577G>A	c.(3577-3579)Ggg>Agg	p.G1193R	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G1193R|ZC3H13_ENST00000378921.2_Missense_Mutation_p.G149R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1193	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G1193W(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CGATTGCTCCCGAGGCTGCTG	0.507																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			1	Substitution - Missense(1)	p.G1193W(1)	lung(1)	cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3577-3579)Ggg>Agg		zinc finger CCCH-type containing 13							174.0	166.0	169.0					13																	46543102		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46543102C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3577G>A	13.37:g.46543102C>T	ENSP00000242848:p.Gly1193Arg					ZC3H13_ENST00000282007.3_Missense_Mutation_p.G1193R|ZC3H13_ENST00000378921.2_Missense_Mutation_p.G149R	p.G1193R			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	14	3925	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1193			Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.3577G>A		.	.	.	.	.	.	.	.	.	.	C	15.16	2.751165	0.49257	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.41065	2.03;2.01;1.01	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000007	T	0.49575	0.1565	L	0.29908	0.895	0.58432	D	0.999991	D;D	0.76494	0.999;0.999	P;P	0.62649	0.806;0.905	T	0.49390	-0.8945	10	0.87932	D	0	.	13.5052	0.61479	0.2721:0.7279:0.0:0.0	.	1193;1193	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	R	1193;149;1193	ENSP00000242848:G1193R;ENSP00000368201:G149R;ENSP00000282007:G1193R	ENSP00000242848:G1193R	G	-	1	0	ZC3H13	45441103	0.981000	0.34729	0.950000	0.38849	0.978000	0.69477	2.745000	0.47459	2.826000	0.97356	0.655000	0.94253	GGG		0.507	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	184	0	0	0	1	0	7	184				
C14orf105	55195	broad.mit.edu	37	14	57947418	57947418	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr14:57947418T>A	ENST00000216445.3	-	5	686	c.550A>T	c.(550-552)Agt>Tgt	p.S184C	C14orf105_ENST00000422976.2_Missense_Mutation_p.S183C|C14orf105_ENST00000534126.1_Missense_Mutation_p.S183C	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	184										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCCCTTGGACTTTGCTTATTA	0.403																																						ENST00000216445.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(550-552)Agt>Tgt		chromosome 14 open reading frame 105							246.0	236.0	240.0					14																	57947418		2203	4300	6503	SO:0001583	missense	55195							g.chr14:57947418T>A	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.550A>T	14.37:g.57947418T>A	ENSP00000216445:p.Ser184Cys					C14orf105_ENST00000422976.2_Missense_Mutation_p.S183C|C14orf105_ENST00000534126.1_Missense_Mutation_p.S183C	p.S184C	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN			5	686	-			184					Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	c.550A>T	CCDS9730.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.10|15.10	2.733592|2.733592	0.48939|0.48939	.|.	.|.	ENSG00000100557|ENSG00000100557	ENST00000524996|ENST00000216445;ENST00000422976;ENST00000534126	.|T;T;T	.|0.45668	.|0.89;0.89;0.89	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.769944	.|0.11904	.|N	.|0.518337	T|T	0.38081|0.38081	0.1027|0.1027	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.49447	.|0.876;0.924;0.867;0.867;0.867	.|P;P;B;B;B	.|0.46452	.|0.517;0.517;0.42;0.42;0.42	T|T	0.22034|0.22034	-1.0228|-1.0228	5|10	.|0.87932	.|D	.|0	-3.4032|-3.4032	12.3497|12.3497	0.55141|0.55141	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|183;183;183;183;184	.|B7ZL43;F5GWJ3;Q17R99;E9PSE9;Q9NVL8	.|.;.;.;.;CN105_HUMAN	N|C	29|184;183;183	.|ENSP00000216445:S184C;ENSP00000392368:S183C;ENSP00000434003:S183C	.|ENSP00000216445:S184C	K|S	-|-	3|1	2|0	C14orf105|C14orf105	57017171|57017171	1.000000|1.000000	0.71417|0.71417	0.837000|0.837000	0.33122|0.33122	0.084000|0.084000	0.17831|0.17831	3.974000|3.974000	0.56852|0.56852	2.235000|2.235000	0.73313|0.73313	0.529000|0.529000	0.55759|0.55759	AAA|AGT		0.403	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		10	74	0	0	0	1	0	10	74				
OR3A4P	390756	broad.mit.edu	37	17	3213981	3213981	+	RNA	SNP	A	A	C			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr17:3213981A>C	ENST00000573491.1	-	0	359																											TATGACCGCTATCTGGCCATC	0.562																																						ENST00000573491.1																			0																				82.0	83.0	83.0					17																	3213981		2203	4300	6503			0							g.chr17:3213981A>C																													17.37:g.3213981A>C						OR3A4P_ENST00000323164.4_RNA								0	359	-									RNA	SNP	ENST00000573491.1	37																																																																																						0.562	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			31	66	0	0	0	1	0	31	66				
HMCN1	83872	broad.mit.edu	37	1	185988674	185988674	+	Splice_Site	SNP	T	T	G			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:185988674T>G	ENST00000271588.4	+	35	5701	c.5472T>G	c.(5470-5472)gtT>gtG	p.V1824V	HMCN1_ENST00000367492.2_Splice_Site_p.V1824V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1824					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAAATATAGTTCCTCCAACAA	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e35-1		hemicentin 1							87.0	90.0	89.0					1																	185988674		2203	4299	6502	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185988674T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5471-1T>G	1.37:g.185988674T>G						HMCN1_ENST00000367492.2_Splice_Site_p.V1824_splice	p.V1824_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			35	5701	+			1824					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.5470_splice	CCDS30956.1																																																																																				0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Silent	10	58	0	0	0	1	0	10	58				
C14orf105	55195	broad.mit.edu	37	14	57947420	57947420	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr14:57947420T>G	ENST00000216445.3	-	5	684	c.548A>C	c.(547-549)cAa>cCa	p.Q183P	C14orf105_ENST00000422976.2_Missense_Mutation_p.Q182P|C14orf105_ENST00000534126.1_Missense_Mutation_p.Q182P	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	183										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCTTGGACTTTGCTTATTAAT	0.393																																						ENST00000216445.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(547-549)cAa>cCa		chromosome 14 open reading frame 105							243.0	234.0	237.0					14																	57947420		2203	4300	6503	SO:0001583	missense	55195							g.chr14:57947420T>G	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.548A>C	14.37:g.57947420T>G	ENSP00000216445:p.Gln183Pro					C14orf105_ENST00000422976.2_Missense_Mutation_p.Q182P|C14orf105_ENST00000534126.1_Missense_Mutation_p.Q182P	p.Q183P	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN			5	684	-			183					Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	c.548A>C	CCDS9730.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.24|14.24	2.477335|2.477335	0.44044|0.44044	.|.	.|.	ENSG00000100557|ENSG00000100557	ENST00000524996|ENST00000216445;ENST00000422976;ENST00000534126	.|T;T;T	.|0.53857	.|0.6;0.6;0.6	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.106098	.|0.41712	.|D	.|0.000833	T|T	0.67748|0.67748	0.2926|0.2926	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.69078	.|0.982;0.997;0.994;0.997;0.997	.|P;D;P;D;D	.|0.63793	.|0.802;0.918;0.857;0.918;0.918	T|T	0.71126|0.71126	-0.4683|-0.4683	5|10	.|0.72032	.|D	.|0.01	-9.2538|-9.2538	12.6343|12.6343	0.56675|0.56675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|182;182;182;182;183	.|B7ZL43;F5GWJ3;Q17R99;E9PSE9;Q9NVL8	.|.;.;.;.;CN105_HUMAN	Q|P	29|183;182;182	.|ENSP00000216445:Q183P;ENSP00000392368:Q182P;ENSP00000434003:Q182P	.|ENSP00000216445:Q183P	K|Q	-|-	1|2	0|0	C14orf105|C14orf105	57017173|57017173	1.000000|1.000000	0.71417|0.71417	0.855000|0.855000	0.33649|0.33649	0.100000|0.100000	0.18952|0.18952	2.551000|2.551000	0.45820|0.45820	2.235000|2.235000	0.73313|0.73313	0.529000|0.529000	0.55759|0.55759	AAA|CAA		0.393	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		10	73	0	0	0	1	0	10	73				
SLC43A1	8501	broad.mit.edu	37	11	57259302	57259302	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr11:57259302G>A	ENST00000278426.3	-	9	1260	c.905C>T	c.(904-906)cCc>cTc	p.P302L	SLC43A1_ENST00000528450.1_Missense_Mutation_p.P302L|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAGGAAAGTGGGGGAGCAGAG	0.602											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(904-906)cCc>cTc		solute carrier family 43 (amino acid system L transporter), member 1							52.0	52.0	52.0					11																	57259302		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57259302G>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.905C>T	11.37:g.57259302G>A	ENSP00000278426:p.Pro302Leu		OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1021	SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.P302L	p.P302L	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN			9	1260	-			302						Missense_Mutation	SNP	ENST00000278426.3	37	c.905C>T	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681711	0.68042	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.62364	0.03;0.03	5.65	5.65	0.86999	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	M	0.75777	2.31	0.80722	D	1	D	0.54601	0.967	P	0.62014	0.897	T	0.70011	-0.4989	10	0.10636	T	0.68	-41.8212	18.4902	0.90844	0.0:0.0:1.0:0.0	.	302	O75387	LAT3_HUMAN	L	302	ENSP00000278426:P302L;ENSP00000435673:P302L	ENSP00000278426:P302L	P	-	2	0	SLC43A1	57015878	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	8.998000	0.93550	2.670000	0.90874	0.650000	0.86243	CCC		0.602	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		5	47	0	0	0	1	0	5	47				
TTLL8	164714	broad.mit.edu	37	22	50484310	50484310	+	Silent	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr22:50484310G>A	ENST00000266182.6	-	5	482	c.483C>T	c.(481-483)acC>acT	p.T161T	TTLL8_ENST00000440475.1_Silent_p.T161T|TTLL8_ENST00000477219.1_5'Flank			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	197					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GCTCACTCTCGGTGCAGAGGC	0.617																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(481-483)acC>acT		tubulin tyrosine ligase-like family, member 8							34.0	38.0	36.0					22																	50484310		2057	4195	6252	SO:0001819	synonymous_variant	164714							g.chr22:50484310G>A			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.483C>T	22.37:g.50484310G>A						TTLL8_ENST00000440475.1_Silent_p.T161T	p.T161T						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	5	482	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.483C>T																																																																																					0.617	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		4	9	0	0	0	1	0	4	9				
PLVAP	83483	broad.mit.edu	37	19	17488042	17488042	+	Missense_Mutation	SNP	C	C	T	rs376999423		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr19:17488042C>T	ENST00000252590.4	-	1	117	c.56G>A	c.(55-57)cGg>cAg	p.R19Q		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	19					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAGCAGCCCCGAGAGCTGCC	0.622																																						ENST00000252590.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(55-57)cGg>cAg		plasmalemma vesicle associated protein		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	80.0	79.0		56	0.7	0.0	19		79	0,8600		0,0,4300	no	missense	PLVAP	NM_031310.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	19/443	17488042	1,13005	2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17488042C>T	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.56G>A	19.37:g.17488042C>T	ENSP00000252590:p.Arg19Gln						p.R19Q	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			1	117	-			19					Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.56G>A	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630930	0.46944	2.27E-4	0.0	ENSG00000130300	ENST00000252590	.	.	.	4.06	0.709	0.18150	.	0.170778	0.38326	N	0.001726	T	0.28599	0.0708	L	0.29908	0.895	0.09310	N	1	D	0.55800	0.973	P	0.49192	0.602	T	0.12344	-1.0551	9	0.59425	D	0.04	-30.2018	6.2814	0.21009	0.0:0.6728:0.0:0.3272	.	19	Q9BX97	PLVAP_HUMAN	Q	19	.	ENSP00000252590:R19Q	R	-	2	0	PLVAP	17349042	.	.	0.006000	0.13384	0.102000	0.19082	.	.	0.137000	0.18759	-0.424000	0.05967	CGG		0.622	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		44	76	0	0	0	1	0	44	76				
IRAK3	11213	broad.mit.edu	37	12	66641820	66641820	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr12:66641820T>G	ENST00000261233.4	+	12	2081	c.1660T>G	c.(1660-1662)Tta>Gta	p.L554V	IRAK3_ENST00000457197.2_Missense_Mutation_p.L493V	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ATCCCAGGACTTAAGGCCCTA	0.458																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1660-1662)Tta>Gta		interleukin-1 receptor-associated kinase 3							116.0	126.0	122.0					12																	66641820		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66641820T>G	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1660T>G	12.37:g.66641820T>G	ENSP00000261233:p.Leu554Val					IRAK3_ENST00000457197.2_Missense_Mutation_p.L493V	p.L554V	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	12	2081	+			554						Missense_Mutation	SNP	ENST00000261233.4	37	c.1660T>G	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	T	9.647	1.140450	0.21205	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.72942	-0.66;-0.7	5.67	-5.55	0.02536	.	2.531860	0.01265	N	0.009281	T	0.47893	0.1470	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20306	-1.0279	9	.	.	.	11.3595	1.0932	0.01668	0.2455:0.1432:0.3497:0.2616	.	493;554	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	V	554;493	ENSP00000261233:L554V;ENSP00000409852:L493V	.	L	+	1	2	IRAK3	64928087	0.013000	0.17824	0.000000	0.03702	0.005000	0.04900	-0.234000	0.09028	-1.350000	0.02199	-1.288000	0.01363	TTA		0.458	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			57	81	0	0	0	1	0	57	81				
TGS1	96764	broad.mit.edu	37	8	56699384	56699384	+	Silent	SNP	A	A	T	rs564885473		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:56699384A>T	ENST00000260129.5	+	4	1404	c.927A>T	c.(925-927)acA>acT	p.T309T		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	309					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GCTCTGGTACAAGTGATAAGG	0.343																																					Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(925-927)acA>acT		trimethylguanosine synthase 1							82.0	79.0	80.0					8																	56699384		2203	4300	6503	SO:0001819	synonymous_variant	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56699384A>T	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.927A>T	8.37:g.56699384A>T							p.T309T	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		4	1404	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	309					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Silent	SNP	ENST00000260129.5	37	c.927A>T	CCDS34894.1																																																																																				0.343	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		15	35	0	0	0	1	0	15	35				
HLA-DRB6	3128	broad.mit.edu	37	6	32521666	32521666	+	RNA	SNP	T	T	C	rs373357111		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr6:32521666T>C	ENST00000411500.1	-	0	817					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AACAGCCCTGTCCCAAGGAAG	0.507																																						ENST00000411500.1																			0																																																			0							g.chr6:32521666T>C	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521666T>C								NR_001298.1						0	817	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.507	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	20	0	0	0	1	0	3	20				
POP1	10940	broad.mit.edu	37	8	99142398	99142398	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:99142398A>G	ENST00000401707.2	+	5	760	c.679A>G	c.(679-681)Aca>Gca	p.T227A	POP1_ENST00000349693.3_Missense_Mutation_p.T227A	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	227					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGAGAGGCCAACAGTCAAGAG	0.498																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(679-681)Aca>Gca		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							80.0	78.0	79.0					8																	99142398		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99142398A>G	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.679A>G	8.37:g.99142398A>G	ENSP00000385787:p.Thr227Ala					POP1_ENST00000349693.3_Missense_Mutation_p.T227A	p.T227A	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		5	760	+	Breast(36;1.78e-06)		227					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.679A>G	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472116	0.84533	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.50548	0.74;0.74	5.91	5.91	0.95273	Ribonuclease P/MRP, subunit POP1 (1);	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	L	0.59967	1.855	0.80722	D	1	P	0.41102	0.738	P	0.53266	0.722	T	0.56450	-0.7977	9	.	.	.	-21.854	14.59	0.68356	1.0:0.0:0.0:0.0	.	227	Q99575	POP1_HUMAN	A	227	ENSP00000385787:T227A;ENSP00000339529:T227A	.	T	+	1	0	POP1	99211574	1.000000	0.71417	0.206000	0.23566	0.727000	0.41649	9.233000	0.95337	2.254000	0.74563	0.533000	0.62120	ACA		0.498	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		5	70	0	0	0	1	0	5	70				
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76.0	70.0	72.0					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		3	46	0	0	0	1	0	3	46				
LY75	4065	broad.mit.edu	37	2	160741690	160741690	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr2:160741690G>T	ENST00000263636.4	-	6	1055	c.1028C>A	c.(1027-1029)cCa>cAa	p.P343Q	LY75_ENST00000553424.1_Missense_Mutation_p.P343Q|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P343Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P343Q|LY75_ENST00000554112.1_Missense_Mutation_p.P343Q	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	343					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATTATTTAATGGTTTCCTGCA	0.398																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(1027-1029)cCa>cAa		lymphocyte antigen 75							96.0	98.0	97.0					2																	160741690		2203	4300	6503	SO:0001583	missense	4065							g.chr2:160741690G>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1028C>A	2.37:g.160741690G>T	ENSP00000263636:p.Pro343Gln					LY75_ENST00000554112.1_Missense_Mutation_p.P343Q|LY75_ENST00000553424.1_Missense_Mutation_p.P343Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P343Q|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P343Q	p.P343Q	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	6	1055	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.1028C>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	3.438	-0.114661	0.06881	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.77	3.69	0.42338	C-type lectin fold (1);C-type lectin-like (1);	0.240857	0.21622	N	0.071634	T	0.30198	0.0757	N	0.13043	0.29	0.24518	N	0.994175	B;B;B	0.21147	0.051;0.016;0.052	B;B;B	0.19946	0.027;0.012;0.027	T	0.15292	-1.0442	10	0.13853	T	0.58	-0.5793	8.0586	0.30619	0.0935:0.0:0.693:0.2135	.	343;343;343	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	Q	343	ENSP00000451511:P343Q;ENSP00000451446:P343Q;ENSP00000263636:P343Q;ENSP00000423463:P343Q;ENSP00000421035:P343Q	ENSP00000423463:P343Q	P	-	2	0	LY75;LY75-CD302	160449936	0.750000	0.28316	0.645000	0.29479	0.503000	0.33858	1.762000	0.38451	1.348000	0.45733	0.650000	0.86243	CCA		0.398	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			34	52	1	0	6.90743e-12	1	7.87125e-12	34	52				
DOCK11	139818	broad.mit.edu	37	X	117744241	117744241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:117744241C>T	ENST00000276202.7	+	28	3019	c.2956C>T	c.(2956-2958)Cga>Tga	p.R986*	DOCK11_ENST00000276204.6_Nonsense_Mutation_p.R986*	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	986					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCAGCTTCCCCGAGGCCAGAG	0.383																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(2956-2958)Cga>Tga		dedicator of cytokinesis 11							120.0	99.0	106.0					X																	117744241		2203	4300	6503	SO:0001587	stop_gained	139818				blood coagulation	cytosol	GTP binding	g.chrX:117744241C>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2956C>T	X.37:g.117744241C>T	ENSP00000276202:p.Arg986*					DOCK11_ENST00000276202.7_Nonsense_Mutation_p.R986*	p.R986*			Q5JSL3	DOC11_HUMAN			28	3030	+			986					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonsense_Mutation	SNP	ENST00000276202.7	37	c.2956C>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	42	9.272358	0.99122	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.34	4.22	0.49857	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.2966	10.7643	0.46283	0.6585:0.3415:0.0:0.0	.	.	.	.	X	986	.	ENSP00000276202:R986X	R	+	1	2	DOCK11	117628269	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.846000	0.39289	0.821000	0.34540	0.594000	0.82650	CGA		0.383	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		35	49	0	0	0	1	0	35	49				
HEATR5B	54497	broad.mit.edu	37	2	37306396	37306396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr2:37306396G>A	ENST00000233099.5	-	3	300	c.205C>T	c.(205-207)Cga>Tga	p.R69*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R69*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	69						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AATAATTTTCGTGTAGGTGGT	0.313																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(205-207)Cga>Tga		HEAT repeat containing 5B							112.0	108.0	109.0					2																	37306396		2201	4299	6500	SO:0001587	stop_gained	54497						binding	g.chr2:37306396G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.205C>T	2.37:g.37306396G>A	ENSP00000233099:p.Arg69*					HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R69*	p.R69*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			3	300	-		all_hematologic(82;0.21)	69					B5MDU8|Q7Z3B2|Q9NVL7	Nonsense_Mutation	SNP	ENST00000233099.5	37	c.205C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946858	0.73672	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	.	.	.	5.75	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7868	16.3395	0.83078	0.0:0.0:0.7481:0.2519	.	.	.	.	X	69	.	ENSP00000233099:R69X	R	-	1	2	HEATR5B	37159900	0.998000	0.40836	0.905000	0.35620	0.138000	0.21146	2.637000	0.46553	1.403000	0.46800	0.563000	0.77884	CGA		0.313	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		13	27	0	0	0	1	0	13	27				
PKDREJ	10343	broad.mit.edu	37	22	46652877	46652877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr22:46652877C>A	ENST00000253255.5	-	1	6342	c.6343G>T	c.(6343-6345)Gaa>Taa	p.E2115*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2115					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAGTTCCATTCATGCTGACCA	0.443																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(6343-6345)Gaa>Taa		polycystin (PKD) family receptor for egg jelly							58.0	57.0	57.0					22																	46652877		2203	4300	6503	SO:0001587	stop_gained	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46652877C>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6343G>T	22.37:g.46652877C>A	ENSP00000253255:p.Glu2115*						p.E2115*	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	6342	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2115					B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	37	c.6343G>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	43	10.083864	0.99332	.	.	ENSG00000130943	ENST00000253255	.	.	.	5.56	4.49	0.54785	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-32.4893	14.2893	0.66265	0.0:0.8518:0.1482:0.0	.	.	.	.	X	2115	.	ENSP00000253255:E2115X	E	-	1	0	PKDREJ	45031541	0.992000	0.36948	0.307000	0.25127	0.184000	0.23303	3.288000	0.51739	2.792000	0.96026	0.557000	0.71058	GAA		0.443	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		3	33	1	0	1	1	1	3	33				
BGN	633	broad.mit.edu	37	X	152773797	152773797	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:152773797G>A	ENST00000331595.4	+	8	1187	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	334					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACTACAACGGCATCAGCCTC	0.577																																						ENST00000331595.4																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(1000-1002)gGc>gAc		biglycan							144.0	117.0	126.0					X																	152773797		2203	4300	6503	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152773797G>A	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.1001G>A	X.37:g.152773797G>A	ENSP00000327336:p.Gly334Asp					BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.G273D	p.G334D	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN			8	1187	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		334					D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.1001G>A	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.034367	0.75617	.	.	ENSG00000182492	ENST00000331595;ENST00000370204;ENST00000430380	T;T	0.04360	3.64;3.64	4.94	4.07	0.47477	.	0.117399	0.64402	N	0.000020	T	0.12263	0.0298	M	0.72118	2.19	0.54753	D	0.999985	D	0.61697	0.99	P	0.51453	0.67	T	0.01235	-1.1410	10	0.54805	T	0.06	-24.7106	11.9221	0.52797	0.0896:0.0:0.9104:0.0	.	334	P21810	PGS1_HUMAN	D	334;273;273	ENSP00000327336:G334D;ENSP00000359223:G273D	ENSP00000327336:G334D	G	+	2	0	BGN	152426991	1.000000	0.71417	0.978000	0.43139	0.895000	0.52256	2.991000	0.49409	1.002000	0.39104	-0.362000	0.07510	GGC		0.577	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		4	173	0	0	0	1	0	4	173				
OR10G2	26534	broad.mit.edu	37	14	22102600	22102600	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr14:22102600C>A	ENST00000542433.1	-	1	496	c.399G>T	c.(397-399)caG>caT	p.Q133H		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGTGCAGGGGCTGACATATTG	0.552																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(397-399)caG>caT		olfactory receptor, family 10, subfamily G, member 2							36.0	43.0	41.0					14																	22102600		2195	4285	6480	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102600C>A		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.399G>T	14.37:g.22102600C>A	ENSP00000445383:p.Gln133His						p.Q133H	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	496	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	133					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.399G>T	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	C	1.872	-0.459972	0.04508	.	.	ENSG00000255582	ENST00000542433	T	0.00554	6.64	3.78	-0.685	0.11328	GPCR, rhodopsin-like superfamily (1);	0.659654	0.12381	N	0.473938	T	0.00271	0.0008	N	0.02985	-0.445	0.25837	N	0.984109	B	0.02656	0.0	B	0.04013	0.001	T	0.41592	-0.9500	10	0.66056	D	0.02	-2.4725	3.6245	0.08108	0.0:0.3407:0.1992:0.4601	.	133	Q8NGC3	O10G2_HUMAN	H	133	ENSP00000445383:Q133H	ENSP00000445383:Q133H	Q	-	3	2	OR10G2	21172440	0.000000	0.05858	0.984000	0.44739	0.824000	0.46624	-2.281000	0.01157	-0.010000	0.14271	-0.226000	0.12346	CAG		0.552	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			16	7	1	0	2.23348e-06	1	2.43202e-06	16	7				
PHKA2	5256	broad.mit.edu	37	X	18936876	18936876	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:18936876C>T	ENST00000379942.4	-	19	2725	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	687					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GAAGACATGGCGGTCTTCTGT	0.448																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2059-2061)cGc>cAc		phosphorylase kinase, alpha 2 (liver)							129.0	107.0	114.0					X																	18936876		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18936876C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2060G>A	X.37:g.18936876C>T	ENSP00000369274:p.Arg687His						p.R687H	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			19	2725	-	Hepatocellular(33;0.183)		687					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2060G>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	c	7.861	0.726148	0.15439	.	.	ENSG00000044446	ENST00000379942	D	0.90732	-2.72	5.72	-2.17	0.07059	Glycoside hydrolase 15-related (1);	0.772488	0.13428	N	0.388665	T	0.63593	0.2524	N	0.00677	-1.265	0.18873	N	0.999988	B	0.02656	0.0	B	0.04013	0.001	T	0.60984	-0.7154	10	0.14656	T	0.56	1.9877	2.9443	0.05841	0.1026:0.1619:0.3735:0.362	.	687	P46019	KPB2_HUMAN	H	687	ENSP00000369274:R687H	ENSP00000369274:R687H	R	-	2	0	PHKA2	18846797	0.959000	0.32827	0.047000	0.18901	0.207000	0.24258	0.403000	0.20982	-0.727000	0.04888	0.597000	0.82753	CGC		0.448	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		43	76	0	0	0	1	0	43	76				
NCKAP5L	57701	broad.mit.edu	37	12	50189045	50189045	+	Silent	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr12:50189045G>A	ENST00000335999.6	-	8	2799	c.2598C>T	c.(2596-2598)ggC>ggT	p.G866G		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	862	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGTCAGTGGGGCCAGGTACTA	0.637																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(2596-2598)ggC>ggT		NCK-associated protein 5-like							74.0	79.0	78.0					12																	50189045		1940	4137	6077	SO:0001819	synonymous_variant	57701							g.chr12:50189045G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2598C>T	12.37:g.50189045G>A							p.G866G	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	2799	-			862			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.2598C>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.456447	0.01071	.	.	ENSG00000167566	ENST00000433948	.	.	.	5.08	3.23	0.37069	.	.	.	.	.	T	0.57184	0.2036	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50808	-0.8784	4	.	.	.	-9.2021	7.6762	0.28486	0.3313:0.0:0.6687:0.0	.	.	.	.	S	581	.	.	P	-	1	0	NCKAP5L	48475312	0.002000	0.14202	0.770000	0.31555	0.172000	0.22775	0.099000	0.15210	0.623000	0.30267	-0.254000	0.11334	CCC		0.637	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		4	93	0	0	0	1	0	4	93				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	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)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		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					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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).|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).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	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			19	24	0	0	0	1	0	19	24				
KRI1	65095	broad.mit.edu	37	19	10672385	10672385	+	Missense_Mutation	SNP	G	G	A	rs559715411		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr19:10672385G>A	ENST00000312962.6	-	6	483	c.464C>T	c.(463-465)tCg>tTg	p.S155L	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Missense_Mutation_p.S151L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	149	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACTTTGCGACGATGTCTCCTG	0.607																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(463-465)tCg>tTg		KRI1 homolog (S. cerevisiae)							144.0	140.0	141.0					19																	10672385		2203	4300	6503	SO:0001583	missense	65095							g.chr19:10672385G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.464C>T	19.37:g.10672385G>A	ENSP00000320917:p.Ser155Leu					KRI1_ENST00000361821.5_Missense_Mutation_p.S151L|KRI1_ENST00000537964.1_5'UTR	p.S155L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		6	483	-			155			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.464C>T	CCDS12242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.441|9.441	1.088180|1.088180	0.20390|0.20390	.|.	.|.	ENSG00000129347|ENSG00000129347	ENST00000543682|ENST00000312962;ENST00000361821;ENST00000541101	.|T;T	.|0.33216	.|1.42;1.42	3.7|3.7	-2.92|-2.92	0.05615|0.05615	.|.	.|0.602267	.|0.16491	.|N	.|0.212117	T|T	0.21801|0.21801	0.0525|0.0525	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|B;B	.|0.12630	.|0.002;0.006	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.18777|0.18777	-1.0326|-1.0326	5|10	.|0.27785	.|T	.|0.31	-2.2623|-2.2623	5.3562|5.3562	0.16063|0.16063	0.3106:0.4453:0.2441:0.0|0.3106:0.4453:0.2441:0.0	.|.	.|155;151	.|Q8N9T8;D3YTE0	.|KRI1_HUMAN;.	C|L	93|155;151;155	.|ENSP00000320917:S155L;ENSP00000355366:S151L	.|ENSP00000320917:S155L	R|S	-|-	1|2	0|0	KRI1|KRI1	10533385|10533385	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.792000|0.792000	0.26929|0.26929	-0.406000|-0.406000	0.07588|0.07588	-0.448000|-0.448000	0.05591|0.05591	CGT|TCG		0.607	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		6	140	0	0	0	1	0	6	140				
DCDC1	341019	broad.mit.edu	37	11	30938455	30938455	+	Silent	SNP	T	T	C			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr11:30938455T>C	ENST00000597505.1	-	24	3413	c.3414A>G	c.(3412-3414)aaA>aaG	p.K1138K	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Silent_p.K217K			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.K217K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAAAGAGCCCTTTTTCCGTTT	0.413																																						ENST00000597505.1																			1	Substitution - coding silent(1)	p.K217K(1)	pancreas(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(3412-3414)aaA>aaG		doublecortin domain containing 1							142.0	141.0	141.0					11																	30938455		2202	4299	6501	SO:0001819	synonymous_variant	341019				intracellular signal transduction			g.chr11:30938455T>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3414A>G	11.37:g.30938455T>C						DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Silent_p.K217K	p.K1138K			P59894	DCDC1_HUMAN			24	3413	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	ENST00000597505.1	37	c.3414A>G																																																																																					0.413	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		3	53	0	0	0	1	0	3	53				
HMCN1	83872	broad.mit.edu	37	1	185988673	185988673	+	Splice_Site	SNP	T	T	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:185988673T>A	ENST00000271588.4	+	35	5700	c.5471T>A	c.(5470-5472)gTt>gAt	p.V1824D	HMCN1_ENST00000367492.2_Splice_Site_p.V1824D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1824					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTAAATATAGTTCCTCCAACA	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e35-1		hemicentin 1							88.0	90.0	89.0					1																	185988673		2203	4299	6502	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185988673T>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5471-1T>A	1.37:g.185988673T>A						HMCN1_ENST00000367492.2_Splice_Site_p.V1824_splice	p.V1824_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			35	5700	+			1824					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.5470_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.195013	0.78902	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.77489	-1.1;-1.1	5.56	5.56	0.83823	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.88921	0.3366	9	.	.	.	.	15.7155	0.77663	0.0:0.0:0.0:1.0	.	1824	Q96RW7	HMCN1_HUMAN	D	1824	ENSP00000271588:V1824D;ENSP00000356462:V1824D	.	V	+	2	0	HMCN1	184255296	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.219000	0.78000	2.100000	0.63781	0.528000	0.53228	GTT		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Missense_Mutation	10	58	0	0	0	1	0	10	58				
SLCO4C1	353189	broad.mit.edu	37	5	101627180	101627180	+	Silent	SNP	T	T	C			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr5:101627180T>C	ENST00000310954.6	-	2	772	c.486A>G	c.(484-486)gtA>gtG	p.V162V		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CAAAGAATGATACAAATAAAG	0.398																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(484-486)gtA>gtG		solute carrier organic anion transporter family, member 4C1							68.0	64.0	65.0					5																	101627180		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101627180T>C	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.486A>G	5.37:g.101627180T>C							p.V162V	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	2	772	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	162						Silent	SNP	ENST00000310954.6	37	c.486A>G	CCDS34205.1																																																																																				0.398	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		5	27	0	0	0	1	0	5	27				
MEP1A	4224	broad.mit.edu	37	6	46793156	46793156	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr6:46793156T>C	ENST00000230588.4	+	8	713	c.704T>C	c.(703-705)tTt>tCt	p.F235S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	235	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATCCCTGAGTTTAACTCCATT	0.428																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(703-705)tTt>tCt		meprin A, alpha (PABA peptide hydrolase)							154.0	135.0	141.0					6																	46793156		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46793156T>C		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.704T>C	6.37:g.46793156T>C	ENSP00000230588:p.Phe235Ser						p.F235S	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		8	713	+			235			Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.704T>C	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858698	0.71834	.	.	ENSG00000112818	ENST00000230588	T	0.63255	-0.03	6.16	6.16	0.99307	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68091	0.2963	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.971;0.988	T	0.71411	-0.4601	10	0.54805	T	0.06	-22.4875	12.9514	0.58403	0.1211:0.0:0.0:0.8789	.	263;235	B7ZL91;Q16819	.;MEP1A_HUMAN	S	235	ENSP00000230588:F235S	ENSP00000230588:F235S	F	+	2	0	MEP1A	46901115	1.000000	0.71417	0.938000	0.37757	0.535000	0.34838	6.294000	0.72738	2.367000	0.80283	0.528000	0.53228	TTT		0.428	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		18	39	0	0	0	1	0	18	39				
CXorf38	159013	broad.mit.edu	37	X	40495933	40495933	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:40495933G>A	ENST00000327877.5	-	5	679	c.653C>T	c.(652-654)cCc>cTc	p.P218L	CXorf38_ENST00000440784.2_Missense_Mutation_p.P133L|CXorf38_ENST00000378421.1_Missense_Mutation_p.P99L|CXorf38_ENST00000378426.1_Missense_Mutation_p.P99L	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	218										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						ATCTTCCTCGGGGATGTGAAC	0.423																																						ENST00000378426.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						c.(295-297)cCc>cTc		chromosome X open reading frame 38							69.0	56.0	60.0					X																	40495933		2203	4300	6503	SO:0001583	missense	159013							g.chrX:40495933G>A	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.653C>T	X.37:g.40495933G>A	ENSP00000330488:p.Pro218Leu					CXorf38_ENST00000378421.1_Missense_Mutation_p.P99L|CXorf38_ENST00000327877.5_Missense_Mutation_p.P218L|CXorf38_ENST00000440784.2_Missense_Mutation_p.P133L	p.P99L			Q8TB03	CX038_HUMAN			4	893	-			218					B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	c.296C>T	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431199	0.62844	.	.	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421;ENST00000440784	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.86	5.0	0.66597	.	0.296424	0.32785	N	0.005642	T	0.54631	0.1870	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.973;0.999	P;D	0.64410	0.787;0.925	T	0.56062	-0.8041	10	0.59425	D	0.04	-9.1175	8.0209	0.30408	0.0821:0.0:0.757:0.1609	.	133;218	E7EN46;Q8TB03	.;CX038_HUMAN	L	99;218;99;133	ENSP00000367683:P99L;ENSP00000330488:P218L;ENSP00000367677:P99L;ENSP00000400019:P133L	ENSP00000330488:P218L	P	-	2	0	CXorf38	40380877	0.996000	0.38824	0.063000	0.19743	0.861000	0.49209	3.256000	0.51492	1.221000	0.43506	0.600000	0.82982	CCC		0.423	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		9	13	0	0	0	1	0	9	13				
PTK2B	2185	broad.mit.edu	37	8	27303351	27303351	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:27303351G>T	ENST00000397501.1	+	29	3063	c.2255G>T	c.(2254-2256)aGc>aTc	p.S752I	PTK2B_ENST00000544172.1_Missense_Mutation_p.S752I|PTK2B_ENST00000517339.1_Intron|PTK2B_ENST00000346049.5_Missense_Mutation_p.S752I|PTK2B_ENST00000338238.4_Intron|PTK2B_ENST00000397497.4_Intron|PTK2B_ENST00000420218.2_Intron	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	752	Pro-rich.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	ACGCTCACCAGCCCTATGGAG	0.542																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2254-2256)aGc>aTc		protein tyrosine kinase 2 beta							192.0	176.0	181.0					8																	27303351		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27303351G>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2255G>T	8.37:g.27303351G>T	ENSP00000380638:p.Ser752Ile					PTK2B_ENST00000517339.1_Intron|PTK2B_ENST00000420218.2_Intron|PTK2B_ENST00000544172.1_Missense_Mutation_p.S752I|PTK2B_ENST00000397497.4_Intron|PTK2B_ENST00000346049.5_Missense_Mutation_p.S752I|PTK2B_ENST00000338238.4_Intron	p.S752I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	29	3063	+		Ovarian(32;2.72e-05)	752			Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.2255G>T	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731166	0.89390	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000544172;ENST00000346049	T;T;T	0.75050	-0.9;-0.9;-0.9	4.75	4.75	0.60458	.	0.085190	0.85682	D	0.000000	T	0.65943	0.2740	N	0.24115	0.695	0.80722	D	1	B	0.27882	0.192	B	0.33690	0.168	T	0.68100	-0.5498	10	0.66056	D	0.02	.	15.6058	0.76668	0.0:0.0:1.0:0.0	.	752	Q14289	FAK2_HUMAN	I	752;757;752;752	ENSP00000380638:S752I;ENSP00000440926:S752I;ENSP00000332816:S752I	ENSP00000332816:S752I	S	+	2	0	PTK2B	27359268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.996000	0.93539	2.348000	0.79779	0.563000	0.77884	AGC		0.542	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		5	137	1	0	1.23904e-05	1	1.29177e-05	5	137				
HMCN1	83872	broad.mit.edu	37	1	185988675	185988675	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:185988675C>T	ENST00000271588.4	+	35	5702	c.5473C>T	c.(5473-5475)Cct>Tct	p.P1825S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1825S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1825					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATATAGTTCCTCCAACAAT	0.403																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(5473-5475)Cct>Tct		hemicentin 1							87.0	90.0	89.0					1																	185988675		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185988675C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5473C>T	1.37:g.185988675C>T	ENSP00000271588:p.Pro1825Ser					HMCN1_ENST00000367492.2_Missense_Mutation_p.P1825S	p.P1825S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			35	5702	+			1825					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.5473C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913565	0.33815	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.75154	-0.91;-0.91	5.56	4.46	0.54185	Immunoglobulin-like fold (1);	0.105252	0.64402	D	0.000003	D	0.83695	0.5310	M	0.68952	2.095	0.48696	D	0.999695	D	0.76494	0.999	D	0.79784	0.993	T	0.82723	-0.0316	10	0.38643	T	0.18	.	15.3067	0.73998	0.0:0.9215:0.0:0.0785	.	1825	Q96RW7	HMCN1_HUMAN	S	1825	ENSP00000271588:P1825S;ENSP00000356462:P1825S	ENSP00000271588:P1825S	P	+	1	0	HMCN1	184255298	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.321000	0.65846	2.598000	0.87819	0.650000	0.86243	CCT		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		10	58	0	0	0	1	0	10	58				
MATN2	4147	broad.mit.edu	37	8	98943528	98943528	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:98943528G>T	ENST00000520016.1	+	2	614	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.V164F|MATN2_ENST00000524308.1_Missense_Mutation_p.V164F|MATN2_ENST00000254898.5_Missense_Mutation_p.V164F			O00339	MATN2_HUMAN	matrilin 2	164	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGTGCCACGGGTCATAATGAT	0.607																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(490-492)Gtc>Ttc		matrilin 2							38.0	43.0	41.0					8																	98943528		2066	4215	6281	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943528G>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.490G>T	8.37:g.98943528G>T	ENSP00000430487:p.Val164Phe					MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.V164F|MATN2_ENST00000520016.1_Missense_Mutation_p.V164F|MATN2_ENST00000524308.1_Missense_Mutation_p.V164F	p.V164F	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	721	+	Breast(36;1.43e-06)		164			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.490G>T	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944144	0.73672	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.97	3.93	0.45458	von Willebrand factor, type A (3);	0.230335	0.30455	N	0.009593	D	0.89128	0.6627	M	0.80616	2.505	0.32170	N	0.581766	P;P;D;D	0.53745	0.886;0.862;0.962;0.962	P;P;P;P	0.54856	0.673;0.543;0.661;0.762	D	0.90959	0.4811	10	0.87932	D	0	-26.5787	9.9833	0.41826	0.2368:0.0:0.7632:0.0	.	164;164;164;164	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	F	164	ENSP00000429977:V164F;ENSP00000254898:V164F;ENSP00000430221:V164F;ENSP00000430487:V164F	ENSP00000254898:V164F	V	+	1	0	MATN2	99012704	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.728000	0.47319	1.505000	0.48720	0.655000	0.94253	GTC		0.607	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			12	23	1	0	4.36969e-10	1	4.86625e-10	12	23				
KIAA1407	57577	broad.mit.edu	37	3	113724396	113724396	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr3:113724396C>A	ENST00000295878.3	-	10	1973	c.1827G>T	c.(1825-1827)aaG>aaT	p.K609N	KIAA1407_ENST00000545063.1_Missense_Mutation_p.K440N	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	609										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTTCTCTGGGCTTTGACAGCA	0.502																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1825-1827)aaG>aaT		KIAA1407							120.0	121.0	120.0					3																	113724396		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113724396C>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1827G>T	3.37:g.113724396C>A	ENSP00000295878:p.Lys609Asn					KIAA1407_ENST00000545063.1_Missense_Mutation_p.K440N	p.K609N	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			10	1973	-			609					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1827G>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	3.213	-0.161178	0.06502	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.45276	1.49;0.9;1.01	5.49	-0.574	0.11738	.	0.557408	0.21155	N	0.079243	T	0.08447	0.0210	N	0.00563	-1.375	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	0.25328	-1.0135	10	0.12430	T	0.62	.	0.847	0.01163	0.2823:0.1359:0.3312:0.2506	.	596;485;609	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	N	609;440;596	ENSP00000295878:K609N;ENSP00000446381:K440N;ENSP00000418099:K596N	ENSP00000295878:K609N	K	-	3	2	KIAA1407	115207086	0.001000	0.12720	0.017000	0.16124	0.598000	0.36846	-0.160000	0.10041	-0.004000	0.14419	-0.262000	0.10625	AAG		0.502	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		7	82	1	0	5.18039e-06	1	5.51824e-06	7	82				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	60	0	0	0	1	0	3	60				
TBC1D27	96597	broad.mit.edu	37	17	16829265	16829265	+	RNA	SNP	G	G	A			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr17:16829265G>A	ENST00000261651.2	-	0	3115									TBC1 domain family, member 27																		GATTTCTTTGGGGACAGCAGG	0.582																																						ENST00000261651.2																			0																																																			0							g.chr17:16829265G>A	AK024458		17p11.2	2013-04-03			ENSG00000128438	ENSG00000128438			28104	other	unknown							Standard	XR_424798		Approved				OTTHUMG00000059260		17.37:g.16829265G>A														0	3115	-									RNA	SNP	ENST00000261651.2	37																																																																																						0.582	TBC1D27-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131472.1	XM_002343481		3	6	0	0	0	1	0	3	6				
LGI1	9211	broad.mit.edu	37	10	95556791	95556791	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr10:95556791T>C	ENST00000371418.4	+	8	1165	c.905T>C	c.(904-906)cTg>cCg	p.L302P	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.L254P	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	302					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GTGGCCCAGCTGTTTGGTGGC	0.393																																						ENST00000371418.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(904-906)cTg>cCg		leucine-rich, glioma inactivated 1							135.0	123.0	127.0					10																	95556791		2203	4300	6503	SO:0001583	missense	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95556791T>C	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.905T>C	10.37:g.95556791T>C	ENSP00000360472:p.Leu302Pro					LGI1_ENST00000542308.1_Missense_Mutation_p.L254P|LGI1_ENST00000371413.3_Intron	p.L302P	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			8	1165	+		Colorectal(252;0.124)	302					A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	c.905T>C	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.329160	0.60743	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	T;T	0.79749	-1.3;-1.3	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.89577	0.6755	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.91635	0.999;0.978	D	0.91156	0.4957	10	0.87932	D	0	-4.9841	14.6492	0.68784	0.0:0.0:0.0:1.0	.	254;302	O95970-3;O95970	.;LGI1_HUMAN	P	254;302	ENSP00000440763:L254P;ENSP00000360472:L302P	ENSP00000360472:L302P	L	+	2	0	LGI1	95546781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.039000	0.60335	0.533000	0.62120	CTG		0.393	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		41	73	0	0	0	1	0	41	73				
NBPF14	25832	broad.mit.edu	37	1	148009497	148009497	+	Missense_Mutation	SNP	C	C	T	rs587658035	byFrequency	TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:148009497C>T	ENST00000369219.1	-	16	1826	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	604	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TCTTTCTCATCCAACAGCTCC	0.478																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1810-1812)Gat>Aat		neuroblastoma breakpoint family, member 14							130.0	236.0	208.0					1																	148009497		1436	4047	5483	SO:0001583	missense	25832					cytoplasm		g.chr1:148009497C>T	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1810G>A	1.37:g.148009497C>T	ENSP00000358221:p.Asp604Asn						p.D604N			Q5TI25	NBPFE_HUMAN			16	1826	-	all_hematologic(923;0.032)		604			NBPF 7.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1810G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.411|6.411	0.443884|0.443884	0.12164|0.12164	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000434489|ENST00000310701	T|.	0.07114|.	3.22|.	.|.	.|.	.|.	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|.	0.24084|.	0.0583|.	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21518|.	-1.0243|.	4|.	0.39692|.	T|.	0.17|.	.|.	.|.	.|.	.|.	.|.	604|.	Q5TI25|.	NBPFE_HUMAN|.	N|X	604;194|609	ENSP00000358221:D604N|.	ENSP00000358221:D604N|.	D|W	-|-	1|3	0|0	NBPF14|NBPF14	146476121|146476121	0.683000|0.683000	0.27633|0.27633	.|.	.|.	.|.	.|.	0.654000|0.654000	0.24918|0.24918	.|.	.|.	.|.	.|.	GAT|TGG		0.478	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		20	164	0	0	0	1	0	20	164				
ADAM28	10863	broad.mit.edu	37	8	24199150	24199150	+	Silent	SNP	G	G	A	rs145453785	byFrequency	TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:24199150G>A	ENST00000265769.4	+	16	1820	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	ADAM28_ENST00000397649.3_Silent_p.S317S|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	570	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S570S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGTGGGTCGGATAATTTGC	0.413													G|||	3	0.000599042	0.0023	0.0	5008	,	,		21334	0.0		0.0	False		,,,				2504	0.0				NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			1	Substitution - coding silent(1)	p.S570S(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1708-1710)tcG>tcA		ADAM metallopeptidase domain 28		G		3,4403	6.2+/-15.9	0,3,2200	263.0	251.0	255.0		1710	-1.3	0.2	8	dbSNP_134	255	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	ADAM28	NM_014265.4		0,9,6494	AA,AG,GG		0.0698,0.0681,0.0692		570/776	24199150	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24199150G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1710G>A	8.37:g.24199150G>A						RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.S317S|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	p.S570S	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	16	1820	+		Prostate(55;0.0959)	570			Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1710G>A	CCDS34865.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	0.066	-1.212798	0.01555	6.81E-4	6.98E-4	ENSG00000042980	ENST00000521629	.	.	.	5.84	-1.3	0.09259	.	.	.	.	.	T	0.20618	0.0496	.	.	.	0.22142	N	0.999336	.	.	.	.	.	.	T	0.24764	-1.0151	4	.	.	.	.	2.6844	0.05103	0.6138:0.1127:0.152:0.1216	.	.	.	.	R	203	.	.	G	+	1	0	ADAM28	24255095	0.005000	0.15991	0.213000	0.23690	0.003000	0.03518	1.195000	0.32186	-0.393000	0.07739	-2.289000	0.00267	GGA		0.413	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		7	108	0	0	0	1	0	7	108				
ARID1A	8289	broad.mit.edu	37	1	27088645	27088646	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:27088645_27088646delTA	ENST00000324856.7	+	7	2625_2626	c.2254_2255delTA	c.(2254-2256)tatfs	p.Y752fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y752fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y369fs|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	752					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACAAATAGGTTATATGCAGAGG	0.48			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2254-2256)tfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27088645_27088646delTA	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2254_2255delTA	1.37:g.27088647_27088648delTA	ENSP00000320485:p.Tyr752fs					ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y752fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y369fs	p.Y752fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	7	2625_2626	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	752					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.2254_2255delTA	CCDS285.1																																																																																				0.480	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		7	66						7	66	---	---	---	---
GNAI3	2773	broad.mit.edu	37	1	110121875	110121876	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:110121875_110121876insG	ENST00000369851.4	+	4	463_464	c.353_354insG	c.(352-357)gtcatgfs	p.M119fs		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	119					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GAAGAAGGAGTCATGACTCCAG	0.446																																						ENST00000369851.4																			0				NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(352-354)gatfs		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3																																				SO:0001589	frameshift_variant	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110121875_110121876insG	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	Exception_encountered	1.37:g.110121875_110121876insG	ENSP00000358867:p.Met119fs						p.D118fs	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)	4	463_464	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	118					P17539|Q5TZX1	Frame_Shift_Ins	INS	ENST00000369851.4	37	c.353_354insG	CCDS802.1																																																																																				0.446	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		7	55						7	55	---	---	---	---
ARIH2	10425	broad.mit.edu	37	3	49004696	49004701	+	In_Frame_Del	DEL	GGCGTG	GGCGTG	-	rs375530222		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr3:49004696_49004701delGGCGTG	ENST00000356401.4	+	6	865_870	c.526_531delGGCGTG	c.(526-531)ggcgtgdel	p.GV180del	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_In_Frame_Del_p.GV180del	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	180					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CGTCAAGGACGGCGTGGGCGTGGGTG	0.476																																						ENST00000356401.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(526-531)del		ariadne RBR E3 ubiquitin protein ligase 2																																				SO:0001651	inframe_deletion	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49004696_49004701delGGCGTG	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.526_531delGGCGTG	3.37:g.49004702_49004707delGGCGTG	ENSP00000348769:p.Gly180_Val181del					ARIH2_ENST00000449376.1_In_Frame_Del_p.GV180del|ARIH2_ENST00000490095.1_3'UTR	p.GV180del	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	6	865_870	+			180					Q9HBZ6|Q9UEM9	In_Frame_Del	DEL	ENST00000356401.4	37	c.526_531delGGCGTG	CCDS2780.1																																																																																				0.476	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		7	60						7	60	---	---	---	---
SERPINB9	5272	broad.mit.edu	37	6	2900835	2900836	+	Frame_Shift_Del	DEL	AG	AG	-	rs374744357		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr6:2900835_2900836delAG	ENST00000380698.4	-	2	99_100	c.10_11delCT	c.(10-12)cttfs	p.L4fs		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	4					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TGCATTAGAAAGAGTTTCCATG	0.436																																						ENST00000380698.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(10-12)tfs		serpin peptidase inhibitor, clade B (ovalbumin), member 9																																				SO:0001589	frameshift_variant	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2900835_2900836delAG	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.10_11delCT	6.37:g.2900837_2900838delAG	ENSP00000370074:p.Leu4fs						p.L4fs	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			2	99_100	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	4					B2RBW3|Q5TD03	Frame_Shift_Del	DEL	ENST00000380698.4	37	c.10_11delCT	CCDS4478.1																																																																																				0.436	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			16	161						16	161	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	712394	712397	+	Frame_Shift_Del	DEL	AAAC	AAAC	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr9:712394_712397delAAAC	ENST00000382303.1	+	7	2280_2283	c.1628_1631delAAAC	c.(1627-1632)gaaacafs	p.ET543fs	KANK1_ENST00000382293.3_Frame_Shift_Del_p.ET385fs|KANK1_ENST00000382297.2_Frame_Shift_Del_p.ET543fs|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	543					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		ACCTCCGTGGAAACAAACAGTGTA	0.515																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(1627-1632)gafs		KN motif and ankyrin repeat domains 1																																				SO:0001589	frameshift_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:712394_712397delAAAC	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1628_1631delAAAC	9.37:g.712398_712401delAAAC	ENSP00000371740:p.Glu543fs					KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Frame_Shift_Del_p.ET385fs|KANK1_ENST00000382297.2_Frame_Shift_Del_p.ET543fs	p.ET543fs	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	2280_2283	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	543					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Frame_Shift_Del	DEL	ENST00000382303.1	37	c.1628_1631delAAAC	CCDS34976.1																																																																																				0.515	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		7	90						7	90	---	---	---	---
CBX5	23468	broad.mit.edu	37	12	54651393	54651393	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr12:54651393delT	ENST00000439541.2	-	2	167	c.42delA	c.(40-42)tcafs	p.S14fs	RN7SL390P_ENST00000470634.2_RNA|CBX5_ENST00000550411.1_Frame_Shift_Del_p.S14fs|CBX5_ENST00000209875.4_Frame_Shift_Del_p.S14fs	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	14	Poly-Ser.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						CCTCATCCTCTGAAGAAGAAC	0.502																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(40-42)tcfs		chromobox homolog 5							177.0	146.0	157.0					12																	54651393		2203	4300	6503	SO:0001589	frameshift_variant	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54651393delT	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.42delA	12.37:g.54651393delT	ENSP00000401009:p.Ser14fs					CBX5_ENST00000439541.2_Frame_Shift_Del_p.S14fs|CBX5_ENST00000550411.1_Frame_Shift_Del_p.S14fs	p.S14fs	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN			2	178	-			14			Poly-Ser.		B2R8T9	Frame_Shift_Del	DEL	ENST00000439541.2	37	c.42delA	CCDS8875.1																																																																																				0.502	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		40	81						40	81	---	---	---	---
NAA16	79612	broad.mit.edu	37	13	41943360	41943362	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr13:41943360_41943362delGAA	ENST00000379406.3	+	15	2212_2214	c.1888_1890delGAA	c.(1888-1890)gaadel	p.E634del	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	634					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.E630D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						aaaaagagatgaagaagaagaag	0.345																																						ENST00000379406.3																			1	Substitution - Missense(1)	p.E630D(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(1888-1890)del		N(alpha)-acetyltransferase 16, NatA auxiliary subunit																																				SO:0001651	inframe_deletion	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41943360_41943362delGAA	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1888_1890delGAA	13.37:g.41943369_41943371delGAA	ENSP00000368716:p.Glu634del					NAA16_ENST00000497143.1_3'UTR	p.E634del	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			15	2212_2214	+			634					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	In_Frame_Del	DEL	ENST00000379406.3	37	c.1888_1890delGAA	CCDS9379.1																																																																																				0.345	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		17	49						17	49	---	---	---	---
MAP3K14-AS1	100133991	broad.mit.edu	37	17	43344891	43344893	+	RNA	DEL	CTC	CTC	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr17:43344891_43344893delCTC	ENST00000585780.1	+	0	1940_1942				MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA					MAP3K14 antisense RNA 1																		ACATCCCAGACTCCTCCTTGCTC	0.611																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14																																						9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43344891_43344893delCTC	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43344894_43344896delCTC						MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA				Q99558	M3K14_HUMAN			0	2311_2313	-									RNA	DEL	ENST00000585780.1	37																																																																																						0.611	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		7	10						7	10	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795197	42795198	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr19:42795197_42795198delTG	ENST00000575354.2	+	10	2317_2318	c.2277_2278delTG	c.(2275-2280)actgtcfs	p.V760fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.V1669fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V760fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	760	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGCCTGCCACTGTCACTAACCT	0.668			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5002-5007)actcfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795197_42795198delTG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2277_2278delTG	19.37:g.42795197_42795198delTG	ENSP00000458663:p.Val760fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.TV759fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.TV759fs	p.TV1668fs			Q96RK0	CIC_HUMAN			11	5072_5073	+		Prostate(69;0.00682)	759					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5004_5005delTG	CCDS12601.1																																																																																				0.668	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			17	17						17	17	---	---	---	---
ARMCX2	9823	broad.mit.edu	37	X	100910841	100910844	+	Frame_Shift_Del	DEL	ATAG	ATAG	-			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:100910841_100910844delATAG	ENST00000328766.5	-	5	2184_2187	c.1731_1734delCTAT	c.(1729-1734)atctatfs	p.IY577fs	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Frame_Shift_Del_p.IY577fs|ARMCX2_ENST00000330154.2_Frame_Shift_Del_p.IY577fs	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	577						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TGAGATTGTCATAGATAATCTCAA	0.348																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(1729-1734)atfs		armadillo repeat containing, X-linked 2																																				SO:0001589	frameshift_variant	9823					integral to membrane	binding	g.chrX:100910841_100910844delATAG	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1731_1734delCTAT	X.37:g.100910841_100910844delATAG	ENSP00000331662:p.Ile577fs					ARMCX2_ENST00000356824.4_Frame_Shift_Del_p.IY577fs|ARMCX2_ENST00000330154.2_Frame_Shift_Del_p.IY577fs	p.IY577fs	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	2184_2187	-			577					O60267|Q5H9D9	Frame_Shift_Del	DEL	ENST00000328766.5	37	c.1731_1734delCTAT	CCDS14490.1																																																																																				0.348	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		9	108						9	108	---	---	---	---
