#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_IGV	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	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_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
SLC2A7	155184	broad.mit.edu;ucsc.edu	37	1	9074839	9074839	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:9074839G>T	ENST00000400906.1	-	7	803	c.804C>A	c.(802-804)caC>caA	p.H268Q		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	268					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCACAGACAGGTGGCCCTCGG	0.687																																					p.H268Q													.	SLC2A7	56		0			c.C804A												25.0	24.0	24.0					1																	9074839		2196	4293	6489	SO:0001583	missense	155184	exon7			AGACAGGTGGCCC	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.804C>A	1.37:g.9074839G>T	ENSP00000383698:p.His268Gln		50	0.02	1		56	0.29	16	NM_207420	0		0	A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	CCDS98.2	.	.	.	.	.	.	.	.	.	.	G	0.704	-0.789885	0.02884	.	.	ENSG00000197241	ENST00000400906	T	0.58506	0.33	4.12	2.12	0.27331	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.323070	0.04971	N	0.463895	T	0.27349	0.0671	N	0.01464	-0.85	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.23332	-1.0191	10	0.14252	T	0.57	.	4.2021	0.10471	0.0879:0.2699:0.4988:0.1434	.	268	Q6PXP3	GTR7_HUMAN	Q	268	ENSP00000383698:H268Q	ENSP00000383698:H268Q	H	-	3	2	SLC2A7	8997426	0.001000	0.12720	0.184000	0.23157	0.042000	0.13812	0.070000	0.14573	0.321000	0.23259	0.491000	0.48974	CAC			0.687	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000127768.3		NM_207420	
PTCHD2	57540	broad.mit.edu;ucsc.edu	37	1	11580781	11580781	+	Silent	SNP	C	C	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:11580781C>T	ENST00000294484.6	+	10	2376	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	PTCHD2_ENST00000389575.3_Silent_p.F746F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	746					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCTGGTGTTCGCCAGCCGGC	0.662																																					p.F746F													.	PTCHD2	193		0			c.C2238T												33.0	38.0	37.0					1																	11580781		1942	4138	6080	SO:0001819	synonymous_variant	57540	exon10			GGTGTTCGCCAGC	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2238C>T	1.37:g.11580781C>T			159	0.0062893082	1		175	0.11	20	NM_020780	0		0	Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	CCDS41247.1																																																																																					0.662	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000005770.2		XM_052561	
PRDM2	7799	broad.mit.edu	37	1	14105124	14105124	+	Missense_Mutation	SNP	A	A	T	rs556843220	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:14105124A>T	ENST00000235372.7	+	8	1690	c.834A>T	c.(832-834)gaA>gaT	p.E278D	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.E77D|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.E77D|PRDM2_ENST00000311066.5_Missense_Mutation_p.E278D	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	278	Asp/Glu-rich (acidic).			EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 6; AAA87023). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		aggaggatgaagaagaagaag	0.498													A|||	3	0.000599042	0.0	0.0	5008	,	,		19571	0.0		0.001	False		,,,				2504	0.002				p.E278D													PRDM2,caecum,carcinoma,0,2	PRDM2	147	2	0			c.A834T												56.0	57.0	57.0					1																	14105124		2203	4300	6503	SO:0001583	missense	7799	exon8			GGATGAAGAAGAA	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.834A>T	1.37:g.14105124A>T	ENSP00000235372:p.Glu278Asp		118	0	0		142	0.04	5	NM_015866	1	0.00	0	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.900977	0.00058	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137;ENST00000407521	T;T;T;T	0.01871	4.73;4.59;4.69;4.69	1.23	-2.46	0.06461	.	0.178267	0.19455	U	0.113847	T	0.00845	0.0028	N	0.08118	0	0.19775	N	0.999955	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.43702	-0.9375	10	0.07325	T	0.83	.	0.0761	0.00027	0.3091:0.2376:0.2157:0.2375	.	278;136;278;278	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	D	278;278;278;77;77;77	ENSP00000235372:E278D;ENSP00000312352:E278D;ENSP00000411103:E77D;ENSP00000341621:E77D	ENSP00000235372:E278D	E	+	3	2	PRDM2	13977711	0.979000	0.34478	0.186000	0.23195	0.093000	0.18481	-0.759000	0.04761	-1.632000	0.01541	-1.785000	0.00643	GAA			0.498	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000021792.2		NM_012231	
CROCCP2	84809	broad.mit.edu	37	1	16946455	16946456	+	lincRNA	INS	-	-	GCTCACGCTGCA			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:16946455_16946456insGCTCACGCTGCA	ENST00000412962.1	-	0	1063_1064				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CAGCTCCTCCTGCTCACGCTGC	0.678																																					.													.	.			0			.																																											0	.			TCCTCCTGCTCAC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946455_16946456insGCTCACGCTGCA			83	0	0		83	0.11	9	.	0		0	Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.678	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000092784.1		NR_026752.1	
FAM110D	79927	broad.mit.edu	37	1	26487994	26487994	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:26487994G>A	ENST00000374268.3	+	2	399	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_024869.2	NP_079145.2	Q8TAY7	F110D_HUMAN	family with sequence similarity 110, member D	71																	AGGCCGGTCCGCCGGGGAAGC	0.701																																					p.R71H													.	.			0			c.G212A												3.0	4.0	4.0					1																	26487994		1612	3607	5219	SO:0001583	missense	79927	exon2			CGGTCCGCCGGGG		CCDS41285.1	1p36.11	2011-12-01	2011-12-01	2011-12-01	ENSG00000197245	ENSG00000197245			25860	protein-coding gene	gene with protein product			"""glycine/arginine rich protein 1"""	GRRP1		12477932	Standard	NM_024869		Approved	FLJ14050	uc001blk.3	Q8TAY7	OTTHUMG00000007537	ENST00000374268.3:c.212G>A	1.37:g.26487994G>A	ENSP00000363386:p.Arg71His		106	0.0094339623	1		124	0.06	7	NM_024869	0		0	A8K3V0|Q9H7Z4	Missense_Mutation	SNP	ENST00000374268.3	37	CCDS41285.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139916	0.77775	.	.	ENSG00000197245	ENST00000374268	T	0.40476	1.03	4.29	4.29	0.51040	.	0.790513	0.11420	U	0.565862	T	0.63283	0.2498	M	0.64170	1.965	0.44736	D	0.997734	D	0.89917	1.0	D	0.77004	0.989	T	0.61262	-0.7098	10	0.52906	T	0.07	.	16.0243	0.80532	0.0:0.0:1.0:0.0	.	71	Q8TAY7	GRPP1_HUMAN	H	71	ENSP00000363386:R71H	ENSP00000363386:R71H	R	+	2	0	GRRP1	26360581	0.974000	0.33945	1.000000	0.80357	0.681000	0.39784	2.992000	0.49417	2.393000	0.81446	0.436000	0.28706	CGC			0.701	FAM110D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019841.1		NM_024869	
RPL5	6125	bcgsc.ca	37	1	93299200	93299201	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	AG	AG					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:93299200_93299201delAG	ENST00000370321.3	+	3	262_263	c.172_173delAG	c.(172-174)agafs	p.R58fs		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	58					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGTGACAAACAGAGATATCATT	0.371																																					p.58_58del													.	RPL5	38		0			c.172_173del	GRCh37	CD086185	RPL5	D																																					SO:0001589	frameshift_variant	6125	exon3			ACAAACAGAGATA	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.172_173delAG	1.37:g.93299202_93299203delAG	ENSP00000359345:p.Arg58fs		48	0	0		62	0.00	0	NM_000969	189	0.00	0	Q32LZ3|Q53HH6|Q9H3F4	Frame_Shift_Del	DEL	ENST00000370321.3	37	CCDS741.1																																																																																					0.371	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000030058.2		NM_000969	
DCLRE1B	64858	bcgsc.ca	37	1	114448290	114448290	+	Missense_Mutation	SNP	T	T	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:114448290T>A	ENST00000369563.3	+	1	528	c.82T>A	c.(82-84)Ttc>Atc	p.F28I	AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000256658.4_5'Flank|DCLRE1B_ENST00000466480.1_3'UTR|AP4B1_ENST00000369569.1_5'Flank|AP4B1_ENST00000369567.1_5'Flank	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	28					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACGTCTCTTCTTCTTGTCTCA	0.617								Other identified genes with known or suspected DNA repair function			OREG0004772	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																									p.F28I													.	DCLRE1B	36		0			c.T82A												75.0	76.0	76.0					1																	114448290		2203	4300	6503	SO:0001583	missense	64858	exon1			CTCTTCTTCTTGT	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.82T>A	1.37:g.114448290T>A	ENSP00000358576:p.Phe28Ile		109	0	0	1458	119	0.00	0	NM_022836	0		0	Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	CCDS866.1	.	.	.	.	.	.	.	.	.	.	T	36	5.696758	0.96802	.	.	ENSG00000118655	ENST00000369563	T	0.74106	-0.81	5.28	5.28	0.74379	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.86033	0.5836	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89186	0.3547	10	0.87932	D	0	-8.3128	15.2399	0.73461	0.0:0.0:0.0:1.0	.	28	Q9H816	DCR1B_HUMAN	I	28	ENSP00000358576:F28I	ENSP00000358576:F28I	F	+	1	0	DCLRE1B	114249813	1.000000	0.71417	0.997000	0.53966	0.774000	0.43823	7.776000	0.85560	1.998000	0.58463	0.459000	0.35465	TTC			0.617	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000033020.2		NM_022836	
BRINP2	57795	bcgsc.ca	37	1	177249621	177249621	+	Silent	SNP	C	C	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:177249621C>T	ENST00000361539.4	+	8	1621	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	437					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TGGCACTTTCCTGGAACAGAG	0.582																																					p.L437L													.	FAM5B	191		0			c.C1309T												65.0	58.0	60.0					1																	177249621		2203	4300	6503	SO:0001819	synonymous_variant	57795	exon8			ACTTTCCTGGAAC		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1309C>T	1.37:g.177249621C>T			287	0	0		432	0.00	0	NM_021165	0		0	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	CCDS1320.1																																																																																					0.582	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084599.1		NM_021165	
AXDND1	126859	broad.mit.edu	37	1	179504044	179504046	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:179504044_179504046delAAG	ENST00000367618.3	+	25	3365_3367	c.2978_2980delAAG	c.(2977-2982)caagaa>caa	p.E997del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	997	Glu-rich.							p.E994Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						gaagaacaacaagaagaagaaga	0.325																																					p.993_994del													.	AXDND1	142		1	Substitution - Missense(1)	large_intestine(1)	c.2978_2980del									4,4058		1,2,2028						-4.9	0.0		dbSNP_126	53	19,8167		6,7,4080	no	coding	AXDND1	NM_144696.4		7,9,6108	A1A1,A1R,RR		0.2321,0.0985,0.1878				23,12225				SO:0001651	inframe_deletion	126859	exon25			AACAACAAGAAGA	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2978_2980delAAG	1.37:g.179504053_179504055delAAG	ENSP00000356590:p.Glu997del		238	0	0		333	0.02	7	NM_144696	10	0.00	0	Q6AWB2|Q96LJ3|Q96M01	In_Frame_Del	DEL	ENST00000367618.3	37	CCDS30948.1																																																																																					0.325	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000085312.1		NM_144696	
BRINP3	339479	hgsc.bcm.edu;broad.mit.edu	37	1	190068175	190068175	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:190068175G>C	ENST00000367462.3	-	8	1505	c.1274C>G	c.(1273-1275)tCg>tGg	p.S425W	BRINP3_ENST00000534846.1_Missense_Mutation_p.S323W	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	425					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											ACACGTGCACGAGTGCGTCTC	0.562																																					p.S425W													FAM5C,NS,carcinoma,+1,3	FAM5C	1	3	0			c.C1274G												53.0	41.0	45.0					1																	190068175		2203	4300	6503	SO:0001583	missense	339479	exon8			GTGCACGAGTGCG	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1274C>G	1.37:g.190068175G>C	ENSP00000356432:p.Ser425Trp		101	0	0		87	0.06	5	NM_199051	0		0	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290088	0.59976	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	D;D	0.87571	-2.27;-2.27	5.65	5.65	0.86999	.	0.117525	0.56097	D	0.000029	D	0.88811	0.6538	L	0.52573	1.65	0.80722	D	1	D;P	0.54964	0.969;0.947	P;P	0.51415	0.669;0.469	D	0.89843	0.4004	10	0.87932	D	0	.	17.2216	0.86959	0.0:0.0:1.0:0.0	.	323;425	B7Z260;Q76B58	.;FAM5C_HUMAN	W	425;323	ENSP00000356432:S425W;ENSP00000438022:S323W	ENSP00000356432:S425W	S	-	2	0	FAM5C	188334798	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.388000	0.59633	2.656000	0.90262	0.591000	0.81541	TCG			0.562	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086278.1		NM_199051	
EPRS	2058	bcgsc.ca	37	1	220151968	220151968	+	Missense_Mutation	SNP	G	G	T	rs528956807		TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr1:220151968G>T	ENST00000366923.3	-	28	4272	c.4003C>A	c.(4003-4005)Ctc>Atc	p.L1335I		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1335	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTAACACTGAGTAATCGCCTT	0.393																																					p.L1335I													EPRS,NS,carcinoma,0,1	EPRS	140	1	0			c.C4003A												145.0	134.0	138.0					1																	220151968		2203	4300	6503	SO:0001583	missense	2058	exon28			CACTGAGTAATCG	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.4003C>A	1.37:g.220151968G>T	ENSP00000355890:p.Leu1335Ile		105	0	0		126	0.00	0	NM_004446	26	0.00	0	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315494	0.60524	.	.	ENSG00000136628	ENST00000366923	D	0.83335	-1.71	5.92	5.92	0.95590	Anticodon-binding (3);	0.126324	0.56097	D	0.000029	T	0.81250	0.4783	L	0.46157	1.445	0.53005	D	0.999961	B	0.16802	0.019	B	0.23275	0.045	T	0.74067	-0.3784	10	0.37606	T	0.19	-4.4942	20.3214	0.98679	0.0:0.0:1.0:0.0	.	1335	P07814	SYEP_HUMAN	I	1335	ENSP00000355890:L1335I	ENSP00000355890:L1335I	L	-	1	0	EPRS	218218591	1.000000	0.71417	0.119000	0.21687	0.715000	0.41141	7.863000	0.87023	2.804000	0.96469	0.655000	0.94253	CTC			0.393	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000091133.2		NM_004446	
FAM21A	387680	bcgsc.ca	37	10	47948782	47948782	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr10:47948782C>T	ENST00000358474.5	+	29	3691	c.3691C>T	c.(3691-3693)Cct>Tct	p.P1231S		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		1231					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ACAGGCCGCACCTGAACCAAG	0.468																																					p.P1231S													.	FAM21B	31		0			c.C3691T												7.0	10.0	9.0					10																	47948782		542	2425	2967	SO:0001583	missense	55747	exon29			GCCGCACCTGAAC																												ENST00000358474.5:c.3691C>T	10.37:g.47948782C>T	ENSP00000351259:p.Pro1231Ser		659	0	0		672	0.00	1	NM_018232	30	0.00	0		Missense_Mutation	SNP	ENST00000358474.5	37	CCDS44379.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.853109	0.00563	.	.	ENSG00000152726	ENST00000358474;ENST00000543972;ENST00000355876	.	.	.	2.6	-1.04	0.10068	.	0.590250	0.18358	N	0.143656	T	0.11537	0.0281	N	0.11064	0.09	0.09310	N	1	B;B;B	0.20671	0.026;0.047;0.015	B;B;B	0.16289	0.015;0.015;0.015	T	0.23691	-1.0181	9	0.05959	T	0.93	-2.3271	1.7089	0.02888	0.1925:0.2869:0.3814:0.1392	.	1231;286;1298	Q5SNT6;Q5SRD0;B7ZME8	FA21B_HUMAN;FA21D_HUMAN;.	S	1231;488;1201	.	ENSP00000348138:P1201S	P	+	1	0	FAM21B	47468788	0.771000	0.28555	0.035000	0.18076	0.165000	0.22458	1.115000	0.31209	-0.597000	0.05813	0.152000	0.16155	CCT			0.468	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047871.2			
FSHB	2488	broad.mit.edu	37	11	30255147	30255147	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:30255147A>C	ENST00000417547.1	+	3	229	c.190A>C	c.(190-192)Aaa>Caa	p.K64Q	FSHB_ENST00000533718.1_Missense_Mutation_p.K64Q|FSHB_ENST00000254122.3_Missense_Mutation_p.K64Q	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	64					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						AGCCAGGCCCAAAATCCAGAA	0.448																																					p.K64Q													.	FSHB	28		0			c.A190C												87.0	82.0	84.0					11																	30255147		2202	4299	6501	SO:0001583	missense	2488	exon3			AGGCCCAAAATCC		CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"""Endogenous ligands"""	3964	protein-coding gene	gene with protein product	"""follitropin, beta chain"", ""follicle-stimulating hormone beta subunit"""	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.190A>C	11.37:g.30255147A>C	ENSP00000416606:p.Lys64Gln		112	0	0		111	0.03	3	NM_000510	0		0	A2TF08|A5JVV3|Q14D61	Missense_Mutation	SNP	ENST00000417547.1	37	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.287084	0.40494	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	D;D;D	0.82344	-1.6;-1.6;-1.6	6.17	6.17	0.99709	Cystine knot (1);	0.418085	0.27539	N	0.018906	T	0.67757	0.2927	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55477	-0.8135	10	0.28530	T	0.3	-48.65	12.9919	0.58625	0.8792:0.0:0.0:0.1208	.	64	P01225	FSHB_HUMAN	Q	64	ENSP00000254122:K64Q;ENSP00000416606:K64Q;ENSP00000433424:K64Q	ENSP00000254122:K64Q	K	+	1	0	FSHB	30211723	0.491000	0.26019	1.000000	0.80357	0.959000	0.62525	3.586000	0.53950	2.371000	0.80710	0.533000	0.62120	AAA			0.448	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389757.1		NM_000510	
ALX4	60529	broad.mit.edu	37	11	44331327	44331327	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:44331327T>G	ENST00000329255.3	-	1	389	c.286A>C	c.(286-288)Acc>Ccc	p.T96P		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	96					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						ggctgcggGGTCGACGGCTGG	0.736																																					p.T96P													.	ALX4	58		0			c.A286C												2.0	3.0	2.0					11																	44331327		1503	3085	4588	SO:0001583	missense	60529	exon1			GCGGGGTCGACGG	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.286A>C	11.37:g.44331327T>G	ENSP00000332744:p.Thr96Pro		40	0.325	13		42	0.21	9	NM_021926	0		0	Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	t	1.162	-0.643597	0.03531	.	.	ENSG00000052850	ENST00000329255	T	0.21932	1.98	2.93	0.253	0.15551	.	1.250750	0.05599	N	0.576102	T	0.13114	0.0318	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32613	-0.9900	10	0.23302	T	0.38	.	2.2179	0.03965	0.0:0.2263:0.3213:0.4524	.	96	Q9H161	ALX4_HUMAN	P	96	ENSP00000332744:T96P	ENSP00000332744:T96P	T	-	1	0	ALX4	44287903	.	.	0.040000	0.18447	0.049000	0.14656	.	.	0.361000	0.24292	0.456000	0.33151	ACC			0.736	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390399.1			
MTA2	9219	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	62365527	62365527	+	Silent	SNP	G	G	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:62365527G>A	ENST00000278823.2	-	6	848	c.459C>T	c.(457-459)taC>taT	p.Y153Y	MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	153	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCTCAGCTTGGTATTTGCAAC	0.478																																					p.Y153Y													.	.			0			c.C459T												160.0	154.0	157.0					11																	62365527		2202	4299	6501	SO:0001819	synonymous_variant	9219	exon6			AGCTTGGTATTTG	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.459C>T	11.37:g.62365527G>A			128	0	0		112	0.21	23	NM_004739	0		0	Q68DB1|Q9UQB5	Silent	SNP	ENST00000278823.2	37	CCDS8022.1																																																																																					0.478	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395578.1		NM_004739	
Unknown	0	bcgsc.ca	37	11	62815368	62815368	+	IGR	SNP	G	G	A	rs150679703|rs374048942|rs7125680|rs372143980	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:62815368G>A								SLC22A8 (32057 upstream) : SLC22A24 (32043 downstream)																							CCAAGGTGCAGCATGCCATGT	0.562																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			GGTGCAGCATGCC																													11.37:g.62815368G>A			29	0	0		28	0.04	1	.	0		0		RNA	SNP		37																																																																																					0	0.562										
MAP4K2	5871	broad.mit.edu	37	11	64566925	64566925	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr11:64566925G>C	ENST00000294066.2	-	14	1112	c.1021C>G	c.(1021-1023)Cgc>Ggc	p.R341G	MAP4K2_ENST00000468062.1_5'Flank|MAP4K2_ENST00000377350.3_Missense_Mutation_p.R341G	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	341					activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TCCTTCCTGCGTGGGGCGCCA	0.602																																					p.R341G													.	MAP4K2	83		0			c.C1021G												84.0	78.0	80.0					11																	64566925		2201	4297	6498	SO:0001583	missense	5871	exon14			TCCTGCGTGGGGC	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1021C>G	11.37:g.64566925G>C	ENSP00000294066:p.Arg341Gly		109	0	0		87	0.06	5	NM_004579	0		0	Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209116	0.58343	.	.	ENSG00000168067	ENST00000294066;ENST00000377350;ENST00000439069	T;T;T	0.13538	2.58;2.58;2.58	5.14	4.18	0.49190	.	0.576714	0.14525	N	0.314219	T	0.13798	0.0334	N	0.14661	0.345	0.34766	D	0.733267	D;D	0.59357	0.985;0.985	P;P	0.54759	0.677;0.76	T	0.10177	-1.0641	10	0.19147	T	0.46	.	11.6092	0.51049	0.0:0.0:0.8226:0.1774	.	341;341	Q86VU3;Q12851	.;M4K2_HUMAN	G	341;341;297	ENSP00000294066:R341G;ENSP00000366567:R341G;ENSP00000403563:R297G	ENSP00000294066:R341G	R	-	1	0	MAP4K2	64323501	0.989000	0.36119	0.994000	0.49952	0.971000	0.66376	2.103000	0.41806	2.582000	0.87167	0.558000	0.71614	CGC			0.602	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000105239.1		NM_004579	
TAS2R8	50836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	10959286	10959286	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr12:10959286C>G	ENST00000240615.2	-	1	606	c.294G>C	c.(292-294)tgG>tgC	p.W98C		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	98					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGGTGGTAATCCACATATTTA	0.363																																					p.W98C													.	.			0			c.G294C												93.0	92.0	92.0					12																	10959286		2203	4300	6503	SO:0001583	missense	50836	exon1			GGTAATCCACATA	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.294G>C	12.37:g.10959286C>G	ENSP00000240615:p.Trp98Cys		96	0	0		175	0.13	22	NM_023918	0		0	Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	C	6.805	0.517577	0.13005	.	.	ENSG00000121314	ENST00000240615	T	0.07216	3.21	4.79	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000027	T	0.22126	0.0533	M	0.76838	2.35	0.09310	N	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.04509	-1.0946	10	0.87932	D	0	.	4.0015	0.09582	0.2099:0.5603:0.1407:0.0891	.	98	Q9NYW2	TA2R8_HUMAN	C	98	ENSP00000240615:W98C	ENSP00000240615:W98C	W	-	3	0	TAS2R8	10850553	0.002000	0.14202	0.001000	0.08648	0.014000	0.08584	0.901000	0.28445	0.266000	0.21894	0.563000	0.77884	TGG			0.363	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399932.1			
ABCC9	10060	broad.mit.edu;ucsc.edu	37	12	22061069	22061069	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr12:22061069A>G	ENST00000261201.4	-	9	1396	c.1397T>C	c.(1396-1398)cTt>cCt	p.L466P	ABCC9_ENST00000261200.4_Missense_Mutation_p.L466P|ABCC9_ENST00000345162.2_Missense_Mutation_p.L466P	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	466	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AATTGGCGCAAGGAGCACAAT	0.378																																					p.L466P													.	ABCC9	411		0			c.T1397C												73.0	63.0	66.0					12																	22061069		2203	4299	6502	SO:0001583	missense	10060	exon9			GGCGCAAGGAGCA	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1397T>C	12.37:g.22061069A>G	ENSP00000261201:p.Leu466Pro		303	0.00330033	1		506	0.11	57	NM_005691	0		0	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326391	0.81690	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	5.29	5.29	0.74685	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96803	0.8956	M	0.93106	3.38	0.80722	D	1	D;D	0.69078	0.997;0.989	D;P	0.70227	0.968;0.726	D	0.97764	1.0222	10	0.87932	D	0	-13.9217	15.4016	0.74845	1.0:0.0:0.0:0.0	.	466;466	O60706;O60706-2	ABCC9_HUMAN;.	P	466;129;466;466	ENSP00000261200:L466P;ENSP00000440521:L129P;ENSP00000261201:L466P;ENSP00000261202:L466P	ENSP00000261200:L466P	L	-	2	0	ABCC9	21952336	1.000000	0.71417	0.748000	0.31131	0.990000	0.78478	9.005000	0.93587	2.222000	0.72286	0.533000	0.62120	CTT			0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000402230.1		NM_005691	
C12orf40	283461	broad.mit.edu	37	12	40040216	40040216	+	Silent	SNP	G	G	T	rs373044195		TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr12:40040216G>T	ENST00000324616.5	+	4	442	c.288G>T	c.(286-288)tcG>tcT	p.S96S	C12orf40_ENST00000405531.3_Silent_p.S96S|C12orf40_ENST00000398716.1_Silent_p.S19S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	96								p.S96S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TTACAATGTCGCCTCACTGTG	0.323																																					p.S96S													C12orf40,NS,carcinoma,0,1	C12orf40	118	1	1	Substitution - coding silent(1)	lung(1)	c.G288T												144.0	140.0	141.0					12																	40040216		1830	4086	5916	SO:0001819	synonymous_variant	283461	exon4			AATGTCGCCTCAC	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.288G>T	12.37:g.40040216G>T			143	0.006993007	1		197	0.02	4	NM_001031748	0		0	B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	ENST00000324616.5	37	CCDS41770.1																																																																																					0.323	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257664.2		NM_173599	
STAT6	6778	broad.mit.edu	37	12	57493815	57493815	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr12:57493815A>G	ENST00000300134.3	-	14	1896	c.1571T>C	c.(1570-1572)cTc>cCc	p.L524P	STAT6_ENST00000454075.3_Missense_Mutation_p.L524P|STAT6_ENST00000538913.2_Missense_Mutation_p.L414P|STAT6_ENST00000556155.1_Missense_Mutation_p.L524P|STAT6_ENST00000537215.2_Missense_Mutation_p.L414P|STAT6_ENST00000543873.2_Missense_Mutation_p.L524P	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	524	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GCGTTTGGTGAGGTCCAGGAC	0.607																																					p.L524P													.	STAT6	69		0			c.T1571C												94.0	74.0	81.0					12																	57493815		2203	4300	6503	SO:0001583	missense	6778	exon14			TTGGTGAGGTCCA	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1571T>C	12.37:g.57493815A>G	ENSP00000300134:p.Leu524Pro		94	0	0		121	0.03	4	NM_001178079	11	0.00	0	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823811	0.71143	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516;ENST00000555375	D;D;D;D;D;D;D	0.93189	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-3.18	4.92	4.92	0.64577	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);SH2 motif (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	D	0.96599	0.8890	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.97067	0.9775	10	0.87932	D	0	-24.2967	12.5465	0.56203	1.0:0.0:0.0:0.0	.	524;524	A8K4S9;P42226	.;STAT6_HUMAN	P	524;414;414;524;524;414;524;414;524;90	ENSP00000300134:L524P;ENSP00000445409:L414P;ENSP00000438451:L524P;ENSP00000451742:L524P;ENSP00000444530:L414P;ENSP00000401486:L524P;ENSP00000450921:L90P	ENSP00000300134:L524P	L	-	2	0	STAT6	55780082	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.070000	0.76763	2.062000	0.61559	0.533000	0.62120	CTC			0.607	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412248.3		NM_003153	
TSC22D1	8848	broad.mit.edu	37	13	45148516	45148516	+	Silent	SNP	T	T	G			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr13:45148516T>G	ENST00000458659.2	-	1	2185	c.1695A>C	c.(1693-1695)gtA>gtC	p.V565V	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	565	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CTTGCAGAGGTACTGGCTGAA	0.453																																					p.V565V													TSC22D1,NS,carcinoma,-2,1	TSC22D1	88	1	0			c.A1695C												94.0	86.0	88.0					13																	45148516		2203	4300	6503	SO:0001819	synonymous_variant	8848	exon1			CAGAGGTACTGGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1695A>C	13.37:g.45148516T>G			87	0.2873563218	25		68	0.32	22	NM_183422	0		0	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	CCDS31966.1																																																																																					0.453	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000044743.2		NM_006022	
TPTE2P3	220115	hgsc.bcm.edu	37	13	53095190	53095190	+	IGR	SNP	G	G	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr13:53095190G>C								RP11-78J21.4 (21750 upstream) : HNRNPA1L2 (96414 downstream)																							CTTTGTTTTTGCAGCAGCAAG	0.269																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	220115	.			GTTTTTGCAGCAG																													13.37:g.53095190G>C			216	0	0		179	0.22	39	.	0		0		RNA	SNP		37																																																																																					0	0.269										
L2HGDH	79944	hgsc.bcm.edu	37	14	50713845	50713847	+	In_Frame_Del	DEL	AGG	AGG	-	rs200555267		TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	AGG	AGG					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr14:50713845_50713847delAGG	ENST00000267436.4	-	10	1718_1720	c.1321_1323delCCT	c.(1321-1323)cctdel	p.P441del	L2HGDH_ENST00000421284.3_In_Frame_Del_p.P441del|L2HGDH_ENST00000261699.4_Intron			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	441					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					AAGTAGCAGCAGGAGAAGGTGCA	0.384																																					p.441_442del													.	.			0			c.1322_1324del																																									SO:0001651	inframe_deletion	79944	exon10			AGCAGCAGGAGAA		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.1321_1323delCCT	14.37:g.50713845_50713847delAGG	ENSP00000267436:p.Pro441del		228	0	0		337	0.16	53	NM_024884	0		0	Q9BRR1	In_Frame_Del	DEL	ENST00000267436.4	37	CCDS9698.1																																																																																					0.384	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276870.2		NM_024884	
SERPINA10	51156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	94756510	94756510	+	Silent	SNP	G	G	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr14:94756510G>A	ENST00000393096.1	-	2	886	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	SERPINA10_ENST00000554723.1_Silent_p.L181L|SERPINA10_ENST00000554173.1_Silent_p.L141L|SERPINA10_ENST00000261994.4_Silent_p.L141L	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	141	Heparin-binding.				blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGGGAAGGCAGGAGCCCGGGC	0.592																																					p.L141L													.	.			0			c.C421T												49.0	55.0	53.0					14																	94756510		2203	4300	6503	SO:0001819	synonymous_variant	51156	exon2			AAGGCAGGAGCCC	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.421C>T	14.37:g.94756510G>A			135	0	0		141	0.11	16	NM_001100607	0		0	A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	CCDS9923.1																																																																																					0.592	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413061.1		NM_016186	
AHNAK2	113146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	105416870	105416870	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr14:105416870G>T	ENST00000333244.5	-	7	5037	c.4918C>A	c.(4918-4920)Ctg>Atg	p.L1640M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1640						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCCCCTCCAGCTGCGCACCA	0.602																																					p.L1640M													AHNAK2_ENST00000333244,NS,carcinoma,+2,1	AHNAK2_ENST00000333244	2	1	0			c.C4918A												150.0	169.0	163.0					14																	105416870		1919	4080	5999	SO:0001583	missense	113146	exon7			CCTCCAGCTGCGC	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4918C>A	14.37:g.105416870G>T	ENSP00000353114:p.Leu1640Met		172	0	0		202	0.20	40	NM_138420	0		0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	11.72	1.721908	0.30503	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	3.43	-6.86	0.01676	.	.	.	.	.	T	0.02767	0.0083	M	0.66506	2.035	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.02837	-1.1104	9	0.52906	T	0.07	.	6.0697	0.19883	0.0984:0.5504:0.2407:0.1105	.	1640	Q8IVF2	AHNK2_HUMAN	M	1640	ENSP00000353114:L1640M	ENSP00000353114:L1640M	L	-	1	2	AHNAK2	104487915	0.000000	0.05858	0.004000	0.12327	0.058000	0.15608	-0.319000	0.08039	-0.941000	0.03700	0.306000	0.20318	CTG			0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000410300.1		NM_138420	
DISP2	85455	bcgsc.ca	37	15	40656718	40656718	+	Silent	SNP	G	G	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:40656718G>A	ENST00000267889.3	+	4	663	c.576G>A	c.(574-576)cgG>cgA	p.R192R		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	192					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGGGGGCCCGGCTGCCCGACT	0.637																																					p.R192R													.	DISP2	86		0			c.G576A												59.0	62.0	61.0					15																	40656718		2203	4300	6503	SO:0001819	synonymous_variant	85455	exon4			GGCCCGGCTGCCC	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.576G>A	15.37:g.40656718G>A			54	0	0		83	0.00	0	NM_033510	0		0	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																					0.637	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252249.1		NM_033510	
BAHD1	22893	hgsc.bcm.edu;broad.mit.edu	37	15	40750667	40750668	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	AC	AC					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:40750667_40750668delAC	ENST00000416165.1	+	2	75_76	c.4_5delAC	c.(4-6)acafs	p.T2fs	BAHD1_ENST00000560846.1_Frame_Shift_Del_p.T2fs|BAHD1_ENST00000561234.1_Frame_Shift_Del_p.T2fs	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	2					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GTACTCCATGACACACACTCGG	0.599																																					p.1_2del													.	.			0			c.3_4del																																									SO:0001589	frameshift_variant	22893	exon2			TCCATGACACACA	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.4_5delAC	15.37:g.40750673_40750674delAC	ENSP00000396976:p.Thr2fs		64	0	0		90	0.11	10	NM_014952	0		0	Q8NDF7|Q9Y2F4	Frame_Shift_Del	DEL	ENST00000416165.1	37	CCDS10058.1																																																																																					0.599	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000252248.1		NM_014952	
EIF3J	8669	broad.mit.edu	37	15	44829415	44829415	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:44829415C>G	ENST00000535391.1	+	1	35	c.23C>G	c.(22-24)gCg>gGg	p.A8G	EIF3J_ENST00000261868.5_Missense_Mutation_p.A8G|EIF3J-AS1_ENST00000313807.4_lincRNA|EIF3J_ENST00000424492.3_Missense_Mutation_p.A8G					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		gcggcggcggcggGGGACTCG	0.701																																					p.A8G													.	EIF3J	29		0			c.C23G												6.0	8.0	7.0					15																	44829415		1994	4063	6057	SO:0001583	missense	8669	exon1			CGGCGGCGGGGGA	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.23C>G	15.37:g.44829415C>G	ENSP00000440221:p.Ala8Gly		207	0.0096618357	2		253	0.03	8	NM_003758	1	0.00	0		Missense_Mutation	SNP	ENST00000535391.1	37		.	.	.	.	.	.	.	.	.	.	c	6.646	0.487769	0.12641	.	.	ENSG00000104131	ENST00000261868;ENST00000535391;ENST00000424492	T;T	0.52754	0.85;0.65	4.22	2.26	0.28386	.	0.604873	0.14767	N	0.299634	T	0.20740	0.0499	N	0.08118	0	0.21950	N	0.999458	B;P;B	0.35780	0.385;0.52;0.385	B;B;B	0.25614	0.028;0.062;0.019	T	0.07829	-1.0752	10	0.40728	T	0.16	.	6.2247	0.20701	0.1833:0.7184:0.0:0.0984	.	8;8;8	B4DUI3;F5H425;O75822	.;.;EIF3J_HUMAN	G	8	ENSP00000261868:A8G;ENSP00000414548:A8G	ENSP00000261868:A8G	A	+	2	0	EIF3J	42616707	0.995000	0.38212	0.983000	0.44433	0.005000	0.04900	1.766000	0.38491	0.505000	0.28104	-0.150000	0.13652	GCG			0.701	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000396804.1		NM_003758	
MYEF2	50804	bcgsc.ca	37	15	48450208	48450208	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:48450208T>C	ENST00000324324.7	-	9	1246	c.967A>G	c.(967-969)Aaa>Gaa	p.K323E	MYEF2_ENST00000557868.1_5'UTR|MYEF2_ENST00000267836.6_Missense_Mutation_p.K323E	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	323					myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGTGGTGTTTTACCATCATGT	0.323																																					p.K323E													.	MYEF2	67		0			c.A967G												151.0	139.0	143.0					15																	48450208		2198	4297	6495	SO:0001583	missense	50804	exon9			GTGTTTTACCATC	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.967A>G	15.37:g.48450208T>C	ENSP00000316950:p.Lys323Glu		176	0	0		253	0.00	0	NM_016132	0		0	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	t	28.6	4.935391	0.92458	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.21543	2.61;2.0	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	L	0.59436	1.845	0.80722	D	1	D;D	0.59357	0.981;0.985	P;P	0.57911	0.829;0.767	T	0.04140	-1.0974	10	0.33940	T	0.23	-13.2293	15.9509	0.79835	0.0:0.0:0.0:1.0	.	323;323	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	E	323	ENSP00000316950:K323E;ENSP00000267836:K323E	ENSP00000267836:K323E	K	-	1	0	MYEF2	46237500	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.168000	0.68352	0.478000	0.44815	AAA			0.323	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000416909.2		NM_016132	
CSPG4P5	114817	broad.mit.edu	37	15	84958415	84958426	+	RNA	DEL	CGAGGACATTGG	CGAGGACATTGG	-	rs535146949|rs548644616|rs373234755	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	CGAGGACATTGG	CGAGGACATTGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:84958415_84958426delCGAGGACATTGG	ENST00000558801.1	-	0	6303_6314									DNM1 pseudogene 51																		TCGGGCACCACGAGGACATTGGTGAGGACAGG	0.557														177	0.0353435	0.0015	0.0403	5008	,	,		20334	0.0198		0.0905	False		,,,				2504	0.0368				.													.	.			0			.																																											0	.			GCACCACGAGGAC			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84958415_84958426delCGAGGACATTGG			7	0.2857142857	2		8	0.25	2	.	0		0		RNA	DEL	ENST00000558801.1	37																																																																																						0.557	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000471721.1			
ZNF592	9640	bcgsc.ca	37	15	85326876	85326876	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:85326876A>C	ENST00000560079.2	+	4	1258	c.970A>C	c.(970-972)Aaa>Caa	p.K324Q	ZNF592_ENST00000299927.3_Missense_Mutation_p.K324Q	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	324					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGTAGCCCCAAAATGCCCAA	0.537																																					p.K324Q													.	ZNF592	95		0			c.A970C												73.0	84.0	80.0					15																	85326876		2203	4299	6502	SO:0001583	missense	9640	exon4			AGCCCCAAAATGC	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.970A>C	15.37:g.85326876A>C	ENSP00000452877:p.Lys324Gln		146	0	0		133	0.00	0	NM_014630	0		0	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058139	0.55325	.	.	ENSG00000166716	ENST00000299927	T	0.00635	6.06	5.65	4.54	0.55810	.	0.230123	0.52532	D	0.000072	T	0.01454	0.0047	L	0.29908	0.895	0.40134	D	0.97675	D	0.76494	0.999	D	0.68943	0.961	T	0.73161	-0.4070	10	0.54805	T	0.06	-10.0498	9.1268	0.36821	0.9148:0.0:0.0852:0.0	.	324	Q92610	ZN592_HUMAN	Q	324	ENSP00000299927:K324Q	ENSP00000299927:K324Q	K	+	1	0	ZNF592	83127880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.008000	0.63991	2.152000	0.67230	0.533000	0.62120	AAA			0.537	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418779.2		NM_014630	
ZNF592	9640	bcgsc.ca	37	15	85327404	85327404	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:85327404C>A	ENST00000560079.2	+	4	1786	c.1498C>A	c.(1498-1500)Ccc>Acc	p.P500T	ZNF592_ENST00000299927.3_Missense_Mutation_p.P500T	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	500					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAACCTCCTGCCCAAAGCCGT	0.627																																					p.P500T													.	ZNF592	95		0			c.C1498A												58.0	43.0	48.0					15																	85327404		2203	4299	6502	SO:0001583	missense	9640	exon4			CTCCTGCCCAAAG	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1498C>A	15.37:g.85327404C>A	ENSP00000452877:p.Pro500Thr		68	0	0		73	0.00	0	NM_014630	1	0.00	0	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858985	0.51376	.	.	ENSG00000166716	ENST00000299927	T	0.01145	5.27	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.03220	0.0094	N	0.19112	0.55	0.51233	D	0.999919	D	0.89917	1.0	D	0.81914	0.995	T	0.65721	-0.6099	10	0.59425	D	0.04	-24.6572	16.5914	0.84766	0.0:1.0:0.0:0.0	.	500	Q92610	ZN592_HUMAN	T	500	ENSP00000299927:P500T	ENSP00000299927:P500T	P	+	1	0	ZNF592	83128408	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.346000	0.79347	2.495000	0.84180	0.655000	0.94253	CCC			0.627	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418779.2		NM_014630	
ADAMTS17	170691	broad.mit.edu	37	15	100672218	100672218	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr15:100672218T>G	ENST00000268070.4	-	12	1820	c.1715A>C	c.(1714-1716)aAc>aCc	p.N572T	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	572	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TTACGGGGGGTTGTCACATTT	0.627											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N572T													.	ADAMTS17	127		0			c.A1715C												58.0	62.0	60.0					15																	100672218		2203	4300	6503	SO:0001583	missense	170691	exon12			GGGGGGTTGTCAC	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1715A>C	15.37:g.100672218T>G	ENSP00000268070:p.Asn572Thr		55	0.2	11	1353	83	0.25	21	NM_139057	0		0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407643	0.62399	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.53640	0.61	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	L	0.46885	1.475	0.58432	D	0.999999	P;P	0.47484	0.59;0.896	B;P	0.48952	0.264;0.596	T	0.55786	-0.8086	10	0.66056	D	0.02	.	15.1255	0.72481	0.0:0.0:0.0:1.0	.	329;572	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	T	572;329	ENSP00000268070:N572T	ENSP00000268070:N572T	N	-	2	0	ADAMTS17	98489741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.666000	0.68059	1.961000	0.56991	0.459000	0.35465	AAC			0.627	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313595.1		NM_139057	
PRSS27	83886	broad.mit.edu	37	16	2762757	2762757	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr16:2762757A>C	ENST00000302641.3	-	6	791	c.737T>G	c.(736-738)gTg>gGg	p.V246G	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	246	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCAGCTGATCACCCCCGCCTG	0.667																																					p.V246G													.	PRSS27	20		0			c.T737G												27.0	24.0	25.0					16																	2762757		2178	4284	6462	SO:0001583	missense	83886	exon6			CTGATCACCCCCG	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.737T>G	16.37:g.2762757A>C	ENSP00000306390:p.Val246Gly		52	0.25	13		66	0.26	17	NM_031948	6	0.17	1		Missense_Mutation	SNP	ENST00000302641.3	37	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	16.11	3.030268	0.54790	.	.	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.85861	-2.04	5.21	5.21	0.72293	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48286	D	0.000182	D	0.94670	0.8281	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	D	0.96007	0.8998	10	0.87932	D	0	.	13.0312	0.58842	1.0:0.0:0.0:0.0	.	246;210	Q9BQR3;B3KP25	PRS27_HUMAN;.	G	246;210	ENSP00000306390:V246G	ENSP00000306390:V246G	V	-	2	0	PRSS27	2702758	0.956000	0.32656	0.212000	0.23672	0.512000	0.34134	8.849000	0.92178	1.969000	0.57287	0.459000	0.35465	GTG			0.667	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250908.1		NM_031948	
NMRAL1	57407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	4519318	4519318	+	Silent	SNP	G	G	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr16:4519318G>A	ENST00000574733.1	-	3	918	c.189C>T	c.(187-189)gtC>gtT	p.V63V	NMRAL1_ENST00000404295.3_Silent_p.V63V|NMRAL1_ENST00000574425.1_Silent_p.V63V|NMRAL1_ENST00000572391.1_Intron|NMRAL1_ENST00000283429.6_Silent_p.V63V			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	63						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GCTCCATGATGACCTGGTCAT	0.572																																					p.V63V													.	.			0			c.C189T												285.0	211.0	236.0					16																	4519318		2197	4300	6497	SO:0001819	synonymous_variant	57407	exon3			CATGATGACCTGG	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.189C>T	16.37:g.4519318G>A			55	0	0		51	0.24	12	NM_020677	71	0.35	25		Silent	SNP	ENST00000574733.1	37	CCDS10516.1																																																																																					0.572	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438579.1		NM_020677	
SLC12A3	6559	hgsc.bcm.edu;broad.mit.edu	37	16	56913028	56913028	+	Silent	SNP	A	A	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr16:56913028A>T	ENST00000563236.1	+	10	1249	c.1224A>T	c.(1222-1224)acA>acT	p.T408T	SLC12A3_ENST00000566786.1_Silent_p.T407T|SLC12A3_ENST00000262502.5_Silent_p.T407T|SLC12A3_ENST00000438926.2_Silent_p.T408T			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	408					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGAATGACACAGTGACCCCTG	0.627																																					p.T408T													.	.			0			c.A1224T												36.0	36.0	36.0					16																	56913028		2198	4300	6498	SO:0001819	synonymous_variant	6559	exon10			TGACACAGTGACC		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1224A>T	16.37:g.56913028A>T			74	0	0		93	0.12	11	NM_001126108	0		0	A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	CCDS58464.1																																																																																					0.627	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000432337.1			
HSF4	3299	bcgsc.ca	37	16	67203680	67203680	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr16:67203680T>C	ENST00000521374.1	+	13	1471	c.1471T>C	c.(1471-1473)Tcc>Ccc	p.S491P	HSF4_ENST00000264009.8_Missense_Mutation_p.S491P|NOL3_ENST00000564053.1_5'Flank|NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000584272.1_Missense_Mutation_p.S461P|HSF4_ENST00000421453.1_Missense_Mutation_p.S461P			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	491					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGCCAGTCCCTCCCCCTAAGA	0.662											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S491P													.	HSF4	33		0			c.T1471C												39.0	45.0	43.0					16																	67203680		1849	4065	5914	SO:0001583	missense	3299	exon15			AGTCCCTCCCCCT	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1471T>C	16.37:g.67203680T>C	ENSP00000430947:p.Ser491Pro		41	0	0	1097	57	0.00	0	NM_001040667	14	0.00	0	Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.48|15.48	2.846491|2.846491	0.51164|0.51164	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000519601;ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.63|4.63	3.45|3.45	0.39498|0.39498	.|.	.|0.435053	.|0.19894	.|N	.|0.103661	T|T	0.40040|0.40040	0.1101|0.1101	N|N	0.24115|0.24115	0.695|0.695	0.26638|0.26638	N|N	0.97234|0.97234	.|D;P	.|0.76494	.|0.999;0.895	.|D;B	.|0.68943	.|0.961;0.38	T|T	0.08848|0.08848	-1.0702|-1.0702	5|9	.|0.72032	.|D	.|0.01	-12.8056|-12.8056	7.8381|7.8381	0.29382|0.29382	0.0:0.0:0.2114:0.7886|0.0:0.0:0.2114:0.7886	.|.	.|461;491	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	P|P	222;134|461;491;415;491	.|.	.|ENSP00000264009:S491P	L|S	+|+	2|1	0|0	HSF4|HSF4	65761181|65761181	0.215000|0.215000	0.23574|0.23574	0.982000|0.982000	0.44146|0.44146	0.184000|0.184000	0.23303|0.23303	1.280000|1.280000	0.33202|0.33202	2.063000|2.063000	0.61619|0.61619	0.460000|0.460000	0.39030|0.39030	CTC|TCC			0.662	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375080.1		NM_001538	
GEMIN4	50628	broad.mit.edu	37	17	648193	648193	+	Missense_Mutation	SNP	G	G	T	rs367581258	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:648193G>T	ENST00000319004.5	-	2	3208	c.3090C>A	c.(3088-3090)caC>caA	p.H1030Q	GEMIN4_ENST00000576778.1_Missense_Mutation_p.H1019Q	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	1030					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGCGCTGCTCGTGTGCCCTCT	0.547																																					p.H1030Q													.	GEMIN4	116		0			c.C3090A												54.0	54.0	54.0					17																	648193		1983	4154	6137	SO:0001583	missense	50628	exon2			CTGCTCGTGTGCC	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.3090C>A	17.37:g.648193G>T	ENSP00000321706:p.His1030Gln		72	0.0138888889	1		65	0.05	3	NM_015721	83	0.00	0	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	7.163	0.586090	0.13749	.	.	ENSG00000179409	ENST00000319004	T	0.05139	3.49	5.71	-3.26	0.05064	.	0.151302	0.56097	D	0.000024	T	0.03477	0.0100	N	0.08118	0	0.80722	D	1	B	0.28400	0.21	B	0.27170	0.077	T	0.32666	-0.9898	10	0.72032	D	0.01	-6.8457	14.6228	0.68599	0.3414:0.0:0.6586:0.0	.	1030	P57678	GEMI4_HUMAN	Q	1030	ENSP00000321706:H1030Q	ENSP00000321706:H1030Q	H	-	3	2	GEMIN4	594943	0.992000	0.36948	0.451000	0.26982	0.245000	0.25701	0.230000	0.17852	-0.693000	0.05121	-1.084000	0.02203	CAC			0.547	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437181.1		NM_015721	
MYH8	4626	bcgsc.ca	37	17	10309436	10309436	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:10309436G>A	ENST00000403437.2	-	21	2448	c.2354C>T	c.(2353-2355)gCc>gTc	p.A785V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	785	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TATAATTTGGGCTAATTTTTC	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.A785V													MYH8,NS,carcinoma,+1,1	MYH8	346	1	0			c.C2354T												159.0	150.0	153.0					17																	10309436		2203	4300	6503	SO:0001583	missense	4626	exon21	Familial Cancer Database	Carney Complex Variant	ATTTGGGCTAATT		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2354C>T	17.37:g.10309436G>A	ENSP00000384330:p.Ala785Val		89	0	0		114	0.00	0	NM_002472	0		0	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579937	0.65992	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.92965	-3.14	5.22	5.22	0.72569	.	0.172230	0.27076	U	0.021052	D	0.88948	0.6576	L	0.38531	1.155	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	D	0.84080	0.0384	10	0.46703	T	0.11	.	18.9728	0.92722	0.0:0.0:1.0:0.0	.	785	P13535	MYH8_HUMAN	V	785	ENSP00000384330:A785V	ENSP00000252173:A785V	A	-	2	0	MYH8	10250161	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.486000	0.66856	2.732000	0.93576	0.650000	0.86243	GCC			0.393	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252724.2		NM_002472	
RHOT1	55288	broad.mit.edu	37	17	30469600	30469601	+	5'UTR	INS	-	-	G			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:30469600_30469601insG	ENST00000333942.6	+	0	128_129				RHOT1_ENST00000354266.3_5'UTR|RHOT1_ENST00000583994.1_5'UTR|RHOT1_ENST00000545287.2_5'UTR|RHOT1_ENST00000358365.3_5'UTR|AC090616.2_ENST00000398832.2_Frame_Shift_Ins_p.P46fs|RHOT1_ENST00000394692.2_5'Flank|RHOT1_ENST00000581094.1_5'Flank	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1						cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ggcggcgcggcgggccccggcg	0.797																																					.													.	RHOT1	69		0			.								,,	32,11,397		12,0,8,4,3,193					,,	2.3	0.9			2	96,37,1331		34,1,27,13,10,647	no	utr-5,utr-5,utr-5	RHOT1	NM_018307.3,NM_001033568.1,NM_001033566.1	,,	46,1,35,17,13,840	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0847,9.7727,9.2437	,,	,,		128,48,1728				SO:0001623	5_prime_UTR_variant	0	.			GCGCGGCGGGCCC	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.-111->G	17.37:g.30469603_30469603dupG			9	0	0		6	0.33	2	.	0		0	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Frame_Shift_Ins	INS	ENST00000333942.6	37	CCDS32612.1																																																																																					0.797	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000447097.1		NM_018307	
GPATCH8	23131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	42513867	42513867	+	Silent	SNP	G	G	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:42513867G>T	ENST00000591680.1	-	4	270	c.240C>A	c.(238-240)ggC>ggA	p.G80G	GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_Silent_p.G2G	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	80	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCGACCCATGCCCATGACAT	0.383																																					p.G80G													.	.			0			c.C240A												142.0	118.0	126.0					17																	42513867		2203	4300	6503	SO:0001819	synonymous_variant	23131	exon4			ACCCATGCCCATG	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.240C>A	17.37:g.42513867G>T			65	0	0		54	0.19	10	NM_001002909	0		0	B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	CCDS32666.1																																																																																					0.383	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457797.1		NM_001002909	
USP36	57602	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	76810500	76810500	+	Silent	SNP	G	G	A	rs139221124	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr17:76810500G>A	ENST00000542802.3	-	11	1601	c.1158C>T	c.(1156-1158)taC>taT	p.Y386Y	USP36_ENST00000312010.6_Silent_p.Y386Y|USP36_ENST00000449938.2_Silent_p.Y86Y|USP36_ENST00000588467.1_5'UTR			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	386	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCACCTTCACGTAGCAGTAAT	0.532													G|||	7	0.00139776	0.0038	0.0014	5008	,	,		20495	0.0		0.0	False		,,,				2504	0.001				p.Y386Y													.	.			0			c.C1158T							G		29,4377	35.2+/-66.4	0,29,2174	84.0	64.0	71.0		1158	-1.9	1.0	17	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	USP36	NM_025090.3		0,29,6474	AA,AG,GG		0.0,0.6582,0.223		386/1124	76810500	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	57602	exon11			CTTCACGTAGCAG	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1158C>T	17.37:g.76810500G>A			39	0	0		25	0.20	5	NM_025090	0		0	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	CCDS32755.1																																																																																			0.003		0.532	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437472.3		NM_025090	
ZFR2	23217	broad.mit.edu	37	19	3831669	3831669	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:3831669G>T	ENST00000262961.4	-	4	597	c.587C>A	c.(586-588)aCc>aAc	p.T196N	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	196	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CGTGTAGGCGGTGCAGGTGGG	0.627																																					p.T196N													.	ZFR2	63		0			c.C587A												17.0	20.0	19.0					19																	3831669		2068	4198	6266	SO:0001583	missense	23217	exon4			TAGGCGGTGCAGG	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.587C>A	19.37:g.3831669G>T	ENSP00000262961:p.Thr196Asn		23	0	0		40	0.08	3	NM_015174	0		0		Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	G	6.108	0.388203	0.11581	.	.	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.16897	3.11;2.31	3.18	0.893	0.19236	.	0.562398	0.16775	U	0.200059	T	0.11452	0.0279	L	0.38175	1.15	0.09310	N	1	B	0.29432	0.244	B	0.24701	0.055	T	0.21861	-1.0233	10	0.34782	T	0.22	.	7.5644	0.27870	0.0:0.0:0.5363:0.4637	.	196	Q9UPR6	ZFR2_HUMAN	N	196	ENSP00000262961:T196N;ENSP00000388974:T196N	ENSP00000262961:T196N	T	-	2	0	ZFR2	3782669	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.252000	0.18278	0.084000	0.17077	-0.324000	0.08512	ACC			0.627	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453648.2		NM_015174	
TICAM1	148022	broad.mit.edu	37	19	4817310	4817310	+	Silent	SNP	A	A	G			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:4817310A>G	ENST00000248244.5	-	2	1309	c.1080T>C	c.(1078-1080)ccT>ccC	p.P360P		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	360	Pro-rich.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		gaggaggaggaggGGATGTTT	0.542																																					p.P360P													.	TICAM1	69		0			c.T1080C												49.0	53.0	51.0					19																	4817310		2203	4300	6503	SO:0001819	synonymous_variant	148022	exon2			AGGAGGAGGGGAT	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1080T>C	19.37:g.4817310A>G			88	0.0340909091	3		130	0.03	4	NM_182919	0		0	B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP	ENST00000248244.5	37	CCDS12136.1																																																																																					0.542	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450435.1		NM_014261	
LYPD4	147719	broad.mit.edu	37	19	42342975	42342975	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:42342975G>T	ENST00000330743.3	-	3	1402	c.191C>A	c.(190-192)aCg>aAg	p.T64K	LYPD4_ENST00000343055.4_Intron|LYPD4_ENST00000601246.1_Intron|AC020956.3_ENST00000593354.1_lincRNA	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	64						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GAACACTAGCGTCTCCTCGCA	0.502																																					p.T64K													.	LYPD4	30		0			c.C191A												159.0	145.0	150.0					19																	42342975		2203	4300	6503	SO:0001583	missense	147719	exon3			ACTAGCGTCTCCT	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.191C>A	19.37:g.42342975G>T	ENSP00000328737:p.Thr64Lys		50	0	0		98	0.05	5	NM_173506	0		0	Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266882	0.59540	.	.	ENSG00000183103	ENST00000330743	T	0.08984	3.03	3.97	2.93	0.34026	.	0.145147	0.32161	N	0.006483	T	0.24084	0.0583	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	T	0.01195	-1.1422	10	0.72032	D	0.01	-6.9186	7.4473	0.27219	0.1177:0.0:0.8823:0.0	.	64	Q6UWN0	LYPD4_HUMAN	K	64	ENSP00000328737:T64K	ENSP00000328737:T64K	T	-	2	0	LYPD4	47034815	0.985000	0.35326	0.850000	0.33497	0.853000	0.48598	2.330000	0.43885	1.252000	0.44001	0.551000	0.68910	ACG			0.502	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463039.1		NM_173506	
SYMPK	8189	bcgsc.ca	37	19	46345588	46345588	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:46345588G>C	ENST00000245934.7	-	9	1251	c.1007C>G	c.(1006-1008)gCc>gGc	p.A336G		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	336					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CATGTTGCGGGCGATCTCGGC	0.637																																					p.A336G													.	SYMPK	104		0			c.C1007G												73.0	67.0	69.0					19																	46345588		2203	4300	6503	SO:0001583	missense	8189	exon9			TTGCGGGCGATCT	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1007C>G	19.37:g.46345588G>C	ENSP00000245934:p.Ala336Gly		90	0	0		118	0.00	0	NM_004819	1	0.00	0	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678921	0.47886	.	.	ENSG00000125755	ENST00000245934	.	.	.	6.17	6.17	0.99709	Armadillo-type fold (1);	0.159237	0.56097	D	0.000029	T	0.40067	0.1102	N	0.08118	0	0.41184	D	0.98625	B;B	0.18863	0.002;0.031	B;B	0.20767	0.002;0.031	T	0.26710	-1.0095	9	0.18276	T	0.48	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	351;336	Q4LE61;Q92797	.;SYMPK_HUMAN	G	336	.	ENSP00000245934:A336G	A	-	2	0	SYMPK	51037428	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.267000	0.58877	2.941000	0.99782	0.655000	0.94253	GCC			0.637	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316581.1		NM_004819	
Unknown	0	hgsc.bcm.edu	37	19	46753078	46753078	+	IGR	SNP	C	C	T	rs146564627	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr19:46753078C>T								IGFL1 (18578 upstream) : HIF3A (47224 downstream)																							GTCACCGGATCATGATCATTG	0.483													c|||	4	0.000798722	0.0	0.0	5008	,	,		20325	0.0		0.003	False		,,,				2504	0.001				.													.	.			0			.																																									SO:0001628	intergenic_variant	100873770	.			CCGGATCATGATC																													19.37:g.46753078C>T			7	0	0		5	0.80	4	.	0		0		RNA	SNP		37																																																																																				0.001	0	0.483										
KIDINS220	57498	bcgsc.ca	37	2	8919088	8919088	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:8919088T>C	ENST00000256707.3	-	19	2733	c.2552A>G	c.(2551-2553)aAt>aGt	p.N851S	KIDINS220_ENST00000319688.5_Missense_Mutation_p.N852S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.N851S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.N851S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.N809S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	851	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTTCTTGCATTGCTTAGTCC	0.408																																					p.N851S													.	KIDINS220	136		0			c.A2552G												196.0	180.0	185.0					2																	8919088		1911	4139	6050	SO:0001583	missense	57498	exon19			CTTGCATTGCTTA	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2552A>G	2.37:g.8919088T>C	ENSP00000256707:p.Asn851Ser		105	0	0		115	0.00	0	NM_020738	1	0.00	0	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	5.447	0.267646	0.10294	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.64	-1.62	0.08372	KAP P-loop (1);	0.463344	0.26816	N	0.022358	T	0.15998	0.0385	N	0.16478	0.41	0.30723	N	0.748066	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.001;0.001;0.002;0.004	T	0.19128	-1.0315	10	0.22706	T	0.39	.	12.5735	0.56352	0.0:0.5416:0.0:0.4584	.	852;852;809;851	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	S	598;535;851;851;809;851;852;852	ENSP00000420364:N598S;ENSP00000256707:N851S;ENSP00000411849:N851S;ENSP00000414923:N809S;ENSP00000418974:N851S;ENSP00000419964:N852S;ENSP00000319947:N852S	ENSP00000256707:N851S	N	-	2	0	KIDINS220	8836539	0.011000	0.17503	0.702000	0.30337	0.613000	0.37349	0.061000	0.14366	-0.096000	0.12329	0.528000	0.53228	AAT			0.408	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323408.2		NM_020738	
XDH	7498	hgsc.bcm.edu;broad.mit.edu	37	2	31602747	31602747	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:31602747G>A	ENST00000379416.3	-	13	1276	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	410	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTGCTGTAGGGGATCTCTATG	0.527																																					p.P410S	Colon(66;682 1445 30109 40147)												.	.			0			c.C1228T												117.0	113.0	114.0					2																	31602747		2203	4300	6503	SO:0001583	missense	7498	exon13			TGTAGGGGATCTC	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1228C>T	2.37:g.31602747G>A	ENSP00000368727:p.Pro410Ser		98	0	0		110	0.21	23	NM_000379	0		0	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254930	0.95336	.	.	ENSG00000158125	ENST00000379416	D	0.87334	-2.24	6.11	6.11	0.99139	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.96414	0.8830	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96968	0.9706	10	0.87932	D	0	.	20.3446	0.98786	0.0:0.0:1.0:0.0	.	410	P47989	XDH_HUMAN	S	410	ENSP00000368727:P410S	ENSP00000368727:P410S	P	-	1	0	XDH	31456251	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.271000	0.95698	2.906000	0.99361	0.655000	0.94253	CCC			0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216840.1		NM_000379	
MRPS5	64969	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	95753180	95753180	+	Silent	SNP	T	T	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:95753180T>C	ENST00000272418.2	-	12	1423	c.1215A>G	c.(1213-1215)aaA>aaG	p.K405K		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	405					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CCCAGTCCAGTTTGACGTCTG	0.567																																					p.K405K													.	.			0			c.A1215G												102.0	93.0	96.0					2																	95753180		2203	4300	6503	SO:0001819	synonymous_variant	64969	exon12			GTCCAGTTTGACG	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.1215A>G	2.37:g.95753180T>C			113	0	0		130	0.10	13	NM_031902	601	0.24	143	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	ENST00000272418.2	37	CCDS2010.1																																																																																					0.567	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252772.1		NM_031902	
KANSL3	55683	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	97276835	97276835	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:97276835C>T	ENST00000431828.1	-	10	1203	c.1127G>A	c.(1126-1128)gGg>gAg	p.G376E	KANSL3_ENST00000441706.2_Missense_Mutation_p.G289E|KANSL3_ENST00000440133.1_Missense_Mutation_p.G170E|KANSL3_ENST00000599854.1_Missense_Mutation_p.G289E|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	376					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CAGAGGAAACCCAAGGCAGAC	0.507																																					p.G376E													.	.			0			c.G1127A												144.0	147.0	146.0					2																	97276835		2079	4214	6293	SO:0001583	missense	55683	exon10			GGAAACCCAAGGC	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1127G>A	2.37:g.97276835C>T	ENSP00000396749:p.Gly376Glu		89	0	0		114	0.18	20	NM_001115016	0		0	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191360	0.94923	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268	T;T;T	0.23147	1.92;1.92;1.92	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.60388	-0.7273	10	0.87932	D	0	.	17.6117	0.88055	0.0:1.0:0.0:0.0	.	170;376;289;264	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	E	289;264;376;289;170;170;289	ENSP00000396749:G376E;ENSP00000400678:G289E;ENSP00000406207:G170E	ENSP00000346144:G289E	G	-	2	0	KIAA1310	96640562	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.718000	0.84743	2.759000	0.94783	0.557000	0.71058	GGG			0.507	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339040.2		NM_017991	
UGGT1	56886	broad.mit.edu	37	2	128865547	128865547	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:128865547G>T	ENST00000259253.6	+	4	360	c.313G>T	c.(313-315)Gct>Tct	p.A105S	UGGT1_ENST00000375990.3_Missense_Mutation_p.A81S	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	105					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AATATTGGAGGCTGCATTTCA	0.408																																					p.A105S													.	UGGT1	126		0			c.G313T												169.0	161.0	163.0					2																	128865547		2203	4300	6503	SO:0001583	missense	56886	exon4			TTGGAGGCTGCAT	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.313G>T	2.37:g.128865547G>T	ENSP00000259253:p.Ala105Ser		98	0	0		137	0.04	5	NM_020120	0		0	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.361739	0.41801	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08282	3.11;3.11	5.02	0.626	0.17670	.	0.422365	0.26549	N	0.023760	T	0.05686	0.0149	L	0.40543	1.245	0.23050	N	0.998379	B	0.25441	0.126	B	0.18263	0.021	T	0.44174	-0.9345	10	0.08381	T	0.77	.	9.7595	0.40524	0.4086:0.0:0.5914:0.0	.	105	Q9NYU2	UGGG1_HUMAN	S	81;105	ENSP00000365158:A81S;ENSP00000259253:A105S	ENSP00000259253:A105S	A	+	1	0	UGGT1	128582017	1.000000	0.71417	0.903000	0.35520	0.848000	0.48234	1.672000	0.37523	0.179000	0.19938	0.655000	0.94253	GCT			0.408	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254435.2		NM_020120	
PLEKHB2	55041	broad.mit.edu	37	2	132110862	132110862	+	Silent	SNP	G	G	C	rs370398581	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:132110862G>C	ENST00000404460.1	+	7	747	c.693G>C	c.(691-693)ccG>ccC	p.P231P	PLEKHB2_ENST00000303908.3_Silent_p.P231P			Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	96						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CCACCGCTCCGGCTCTCCCGA	0.726													.|||	3055	0.610024	0.2254	0.8184	5008	,	,		6315	0.6984		0.835	False		,,,				2504	0.6595				.													.	.			0			.												4.0	3.0	4.0					2																	132110862		581	586	1167	SO:0001819	synonymous_variant	55041	.			CGCTCCGGCTCTC		CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000404460.1:c.693G>C	2.37:g.132110862G>C			39	0.0256410256	1		50	0.10	5	.	0		0	B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Silent	SNP	ENST00000404460.1	37																																																																																						0.726	PLEKHB2-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000318943.2		NM_017958	
NEB	4703	bcgsc.ca	37	2	152484132	152484132	+	Missense_Mutation	SNP	C	C	T	rs377180119		TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:152484132C>T	ENST00000172853.10	-	65	9466	c.9319G>A	c.(9319-9321)Gat>Aat	p.D3107N	NEB_ENST00000604864.1_Missense_Mutation_p.D3350N|NEB_ENST00000427231.2_Missense_Mutation_p.D3350N|NEB_ENST00000603639.1_Missense_Mutation_p.D3350N|NEB_ENST00000397345.3_Missense_Mutation_p.D3350N|NEB_ENST00000409198.1_Missense_Mutation_p.D3107N			P20929	NEBU_HUMAN	nebulin	3107					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGTCCACATCGCTGACTAAG	0.537																																					p.D3350N													.	NEB	1697		0			c.G10048A							C	ASN/ASP,ASN/ASP,ASN/ASP	0,4256		0,0,2128	324.0	319.0	321.0		10048,10048,9319	5.6	0.5	2		321	2,8440		0,2,4219	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	23,23,23	0,2,6347	TT,TC,CC		0.0237,0.0,0.0158	possibly-damaging,possibly-damaging,possibly-damaging	3350/8526,3350/8526,3107/6670	152484132	2,12696	2128	4221	6349	SO:0001583	missense	4703	exon69			CCACATCGCTGAC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9319G>A	2.37:g.152484132C>T	ENSP00000172853:p.Asp3107Asn		188	0	0		246	0.00	0	NM_001271208	0		0	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.947621	0.73787	0.0	2.37E-4	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.58	5.58	0.84498	.	0.047750	0.85682	D	0.000000	T	0.48095	0.1481	M	0.73430	2.235	0.80722	D	1	P	0.51791	0.948	B	0.40741	0.339	T	0.55237	-0.8172	10	0.46703	T	0.11	.	19.5796	0.95461	0.0:1.0:0.0:0.0	.	3107	P20929	NEBU_HUMAN	N	3107;3350;3350;3107	ENSP00000386259:D3107N;ENSP00000380505:D3350N;ENSP00000416578:D3350N;ENSP00000172853:D3107N	ENSP00000172853:D3107N	D	-	1	0	NEB	152192378	0.998000	0.40836	0.545000	0.28153	0.274000	0.26718	2.534000	0.45676	2.624000	0.88883	0.655000	0.94253	GAT			0.537	NEB-201	KNOWN	basic	protein_coding	protein_coding				NM_004543	
TNS1	7145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	218751314	218751314	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:218751314G>A	ENST00000171887.4	-	11	999	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	TNS1_ENST00000310858.6_Missense_Mutation_p.P214S|TNS1_ENST00000430930.1_Missense_Mutation_p.P183S|TNS1_ENST00000419504.1_Missense_Mutation_p.P183S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	183	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGAAACAAGGGCTTGTTGTTC	0.542											OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P183S													.	.			0			c.C547T												152.0	129.0	136.0					2																	218751314		2203	4300	6503	SO:0001583	missense	7145	exon11			ACAAGGGCTTGTT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.547C>T	2.37:g.218751314G>A	ENSP00000171887:p.Pro183Ser		98	0	0	2253	155	0.23	35	NM_022648	0		0	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232524	0.95207	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.16	5.16	0.70880	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	M	0.69823	2.125	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.873;0.977;1.0;1.0;1.0	D;P;D;D;D;D	0.97110	0.999;0.739;0.919;1.0;0.999;0.999	D	0.91301	0.5067	10	0.46703	T	0.11	.	18.835	0.92159	0.0:0.0:1.0:0.0	.	183;237;214;183;183;183	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	S	183;183;183;308;251;214	ENSP00000171887:P183S;ENSP00000408724:P183S;ENSP00000406016:P183S;ENSP00000405460:P308S;ENSP00000400383:P251S;ENSP00000308321:P214S	ENSP00000171887:P183S	P	-	1	0	TNS1	218459559	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.451000	0.73481	2.687000	0.91594	0.596000	0.82720	CCC			0.542	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256672.2		NM_022648	
ALPPL2	251	hgsc.bcm.edu	37	2	233271791	233271791	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr2:233271791G>C	ENST00000295453.3	+	2	144	c.92G>C	c.(91-93)tGg>tCg	p.W31S		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	31					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CCGGACTTCTGGAACCGCCAG	0.632																																					p.W31S													.	.			0			c.G92C												66.0	81.0	76.0					2																	233271791		2203	4300	6503	SO:0001583	missense	251	exon2			ACTTCTGGAACCG	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.92G>C	2.37:g.233271791G>C	ENSP00000295453:p.Trp31Ser		80	0	0		93	0.12	11	NM_031313	2	0.00	0	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662700	0.29515	.	.	ENSG00000163286	ENST00000295453	D	0.82711	-1.64	2.19	2.19	0.27852	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.131587	0.56097	D	0.000035	D	0.90896	0.7139	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90586	0.4533	10	0.87932	D	0	.	7.7777	0.29048	0.126:0.0:0.874:0.0	.	31	P10696	PPBN_HUMAN	S	31	ENSP00000295453:W31S	ENSP00000295453:W31S	W	+	2	0	ALPPL2	232980035	1.000000	0.71417	0.940000	0.37924	0.064000	0.16182	8.860000	0.92272	1.528000	0.49103	0.205000	0.17691	TGG			0.632	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257034.2		NM_031313	
GDF5	8200	hgsc.bcm.edu;broad.mit.edu	37	20	34025393	34025394	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr20:34025393_34025394insT	ENST00000374372.1	-	3	818_819	c.315_316insA	c.(313-318)gaacccfs	p.P106fs	GDF5_ENST00000374369.3_Frame_Shift_Ins_p.P106fs			P43026	GDF5_HUMAN	growth differentiation factor 5	106					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTGGCTTGGGTTCAGGGCCGC	0.634																																					p.P106fs													.	.			0			c.316_317insA																																									SO:0001589	frameshift_variant	8200	exon1			GCTTGGGTTCAGG	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.316dupA	20.37:g.34025395_34025395dupT	ENSP00000363492:p.Pro106fs		57	0	0		93	0.24	22	NM_000557	0		0	E1P5Q2|Q96SB1	Frame_Shift_Ins	INS	ENST00000374372.1	37	CCDS13254.1																																																																																					0.634	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078875.2			
ZC3H7B	23264	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	41742035	41742035	+	Silent	SNP	C	C	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr22:41742035C>T	ENST00000352645.4	+	14	1745	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y	ZC3H7B_ENST00000351589.4_Silent_p.Y496Y	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	512					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACTGTAAGTACGGGGATAACT	0.617																																					p.Y496Y													.	.			0			c.C1488T												193.0	168.0	177.0					22																	41742035		2203	4300	6503	SO:0001819	synonymous_variant	23264	exon14			TAAGTACGGGGAT		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1488C>T	22.37:g.41742035C>T			51	0	0		56	0.16	9	NM_017590	0		0	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	CCDS14013.1																																																																																					0.617	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320696.1		NM_017590	
TUBGCP6	85378	bcgsc.ca	37	22	50655406	50655406	+	IGR	SNP	G	G	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr22:50655406G>A	ENST00000248846.5	-	0	5612				TUBGCP6_ENST00000491449.1_5'Flank|SELO_ENST00000380903.2_Missense_Mutation_p.R565Q|SELO_ENST00000492092.1_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCAGAGCCCGGCTGGACAAG	0.667																																					.													.	.			0			.												18.0	24.0	22.0					22																	50655406		2128	4234	6362	SO:0001628	intergenic_variant	0	.			GAGCCCGGCTGGA	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150		22.37:g.50655406G>A			24	0	0		31	0.00	0	.	103	0.01	1	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622243	0.96660	.	.	ENSG00000073169	ENST00000380903	T	0.48836	0.8	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.981;0.998	T	0.74103	-0.3773	10	0.38643	T	0.18	.	18.6671	0.91495	0.0:0.0:1.0:0.0	.	565;408	Q9BVL4;Q6ICA4	SELO_HUMAN;.	Q	565	ENSP00000370288:R565Q	ENSP00000370288:R565Q	R	+	2	0	RP3-402G11.5	48997533	1.000000	0.71417	0.797000	0.32132	0.791000	0.44710	8.389000	0.90172	2.404000	0.81709	0.491000	0.48974	CGG			0.667	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075004.3		NM_020461	
IQCF6	440956	bcgsc.ca	37	3	51812955	51812955	+	Missense_Mutation	SNP	C	C	T	rs370141442		TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr3:51812955C>T	ENST00000398780.3	-	1	54	c.8G>A	c.(7-9)cGc>cAc	p.R3H		NM_001143833.3	NP_001137305.2	A8MYZ5	IQCF6_HUMAN	IQ motif containing F6	3										breast(1)	1						TAACGTCCGGCGCACCATGTT	0.552																																					p.R3H													.	IQCF6	2		0			c.G8A												18.0	16.0	17.0					3																	51812955		692	1591	2283	SO:0001583	missense	440956	exon2			GTCCGGCGCACCA		CCDS54590.1	3p21.1	2008-10-16			ENSG00000214686	ENSG00000214686			35158	protein-coding gene	gene with protein product							Standard	NM_001143833		Approved		uc021wyv.1	A8MYZ5		ENST00000398780.3:c.8G>A	3.37:g.51812955C>T	ENSP00000381760:p.Arg3His		88	0	0		121	0.00	0	NM_001143833	0		0		Missense_Mutation	SNP	ENST00000398780.3	37	CCDS54590.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364622	0.82463	.	.	ENSG00000214686	ENST00000398780	T	0.63255	-0.03	4.9	4.9	0.64082	.	.	.	.	.	T	0.77157	0.4089	M	0.72894	2.215	0.33234	D	0.556285	D	0.76494	0.999	D	0.81914	0.995	T	0.83257	-0.0050	9	0.87932	D	0	-38.7364	13.4535	0.61184	0.0:1.0:0.0:0.0	.	26	A8MYZ5	IQCF6_HUMAN	H	3	ENSP00000381760:R3H	ENSP00000381760:R3H	R	-	2	0	IQCF6	51787995	0.996000	0.38824	1.000000	0.80357	0.956000	0.61745	3.347000	0.52200	2.564000	0.86499	0.655000	0.94253	CGC			0.552	IQCF6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				XM_496643	
PRICKLE2	166336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	64142837	64142837	+	Splice_Site	SNP	C	C	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr3:64142837C>A	ENST00000295902.6	-	5	1186		c.e5+1		PRICKLE2_ENST00000564377.1_Splice_Site	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)						establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTTGCTCTAACCTCATCGCAG	0.527																																					.													.	.			0			c.600+1G>T												68.0	65.0	66.0					3																	64142837		2203	4300	6503	SO:0001630	splice_region_variant	166336	exon6			CTCTAACCTCATC	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.600+1G>T	3.37:g.64142837C>A			220	0	0		255	0.21	53	NM_198859	0		0	Q0VF44	Splice_Site	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009362	0.75046	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0989	0.97860	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRICKLE2	64117877	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	7.776000	0.85560	2.764000	0.94973	0.650000	0.86243	.			0.527	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000352219.1		NM_198859	Intron
ZPLD1	131368	broad.mit.edu	37	3	102181181	102181181	+	Silent	SNP	C	C	A	rs148150314		TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr3:102181181C>A	ENST00000491959.1	+	13	1521	c.639C>A	c.(637-639)acC>acA	p.T213T	ZPLD1_ENST00000466937.1_Silent_p.T213T|ZPLD1_ENST00000306176.1_Silent_p.T229T			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	213	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTTTGAAAACCAAAGTATTTG	0.353																																					p.T229T													.	ZPLD1	82		0			c.C687A												67.0	70.0	69.0					3																	102181181		2203	4300	6503	SO:0001819	synonymous_variant	131368	exon6			GAAAACCAAAGTA	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.639C>A	3.37:g.102181181C>A			118	0.0593220339	7		132	0.14	18	NM_175056	0		0	Q49AS1|Q8WU36	Silent	SNP	ENST00000491959.1	37																																																																																						0.353	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000353984.1		NM_175056	
CASR	846	bcgsc.ca	37	3	122002841	122002841	+	Silent	SNP	C	C	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr3:122002841C>T	ENST00000490131.1	+	7	2412	c.2040C>T	c.(2038-2040)cgC>cgT	p.R680R	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Silent_p.R680R|CASR_ENST00000498619.1_Silent_p.R690R	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	680					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCGCCTGCGCCAGCCGGCCT	0.607																																					p.R690R													.	CASR	190		0			c.C2070T												93.0	79.0	84.0					3																	122002841		2203	4300	6503	SO:0001819	synonymous_variant	846	exon7			CCTGCGCCAGCCG	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2040C>T	3.37:g.122002841C>T			85	0	0		98	0.00	0	NM_001178065	0		0	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	CCDS3010.1																																																																																					0.607	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000355761.1		NM_000388	
SAMD7	344658	broad.mit.edu	37	3	169644457	169644457	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr3:169644457C>T	ENST00000428432.2	+	6	796	c.407C>T	c.(406-408)cCc>cTc	p.P136L	SAMD7_ENST00000335556.3_Missense_Mutation_p.P136L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	136										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CCAGCTGCCCCCGCTGCCTAC	0.537																																					p.P136L													.	SAMD7	69		0			c.C407T												48.0	50.0	49.0					3																	169644457		2203	4300	6503	SO:0001583	missense	344658	exon6			CTGCCCCCGCTGC	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.407C>T	3.37:g.169644457C>T	ENSP00000391299:p.Pro136Leu		183	0	0		251	0.02	5	NM_182610	0		0		Missense_Mutation	SNP	ENST00000428432.2	37	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371002	0.24771	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.66099	-0.19;-0.19	6.16	5.26	0.73747	.	0.107266	0.64402	N	0.000004	T	0.58206	0.2106	M	0.68952	2.095	0.58432	D	0.999999	P	0.38110	0.618	B	0.32211	0.142	T	0.61367	-0.7077	10	0.46703	T	0.11	-6.3382	13.7785	0.63069	0.0:0.9224:0.0:0.0776	.	136	Q7Z3H4	SAMD7_HUMAN	L	136	ENSP00000391299:P136L;ENSP00000334668:P136L	ENSP00000334668:P136L	P	+	2	0	SAMD7	171127151	0.244000	0.23889	0.138000	0.22173	0.002000	0.02628	4.207000	0.58480	1.539000	0.49286	0.650000	0.86243	CCC			0.537	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351959.1		NM_182610	
MUC4	4585	broad.mit.edu	37	3	195513346	195513346	+	Missense_Mutation	SNP	A	A	G	rs79482340	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr3:195513346A>G	ENST00000463781.3	-	2	5564	c.5105T>C	c.(5104-5106)gTt>gCt	p.V1702A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1702A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGCCGAGGAAACGTCGGTGAC	0.597																																					p.V1702A													.	MUC4	1505		0			c.T5105C												32.0	34.0	33.0					3																	195513346		690	1583	2273	SO:0001583	missense	4585	exon2			GAGGAAACGTCGG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5105T>C	3.37:g.195513346A>G	ENSP00000417498:p.Val1702Ala		386	0.0051813472	2		418	0.03	12	NM_018406	0		0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	2.600	-0.293230	0.05568	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.41758	1.15;0.99	.	.	.	.	.	.	.	.	T	0.20129	0.0484	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.16689	-1.0394	7	.	.	.	.	4.0492	0.09786	0.6617:0.0:0.3382:0.0	.	1702	E7ESK3	.	A	1702	ENSP00000417498:V1702A;ENSP00000420243:V1702A	.	V	-	2	0	MUC4	196997741	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-2.420000	0.01032	-1.871000	0.01138	-1.895000	0.00532	GTT			0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000324081.6		NM_018406	
USP46	64854	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	53492336	53492336	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr4:53492336T>C	ENST00000441222.3	-	4	594	c.410A>G	c.(409-411)cAg>cGg	p.Q137R	USP46_ENST00000451218.2_Missense_Mutation_p.Q110R|USP46_ENST00000508499.1_Missense_Mutation_p.Q130R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	137	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CTTCTCCTCCTGAAGGATGTC	0.378																																					p.Q137R													.	.			0			c.A410G												108.0	98.0	101.0					4																	53492336		1819	4088	5907	SO:0001583	missense	64854	exon4			TCCTCCTGAAGGA	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.410A>G	4.37:g.53492336T>C	ENSP00000407818:p.Gln137Arg		144	0	0		168	0.16	27	NM_022832	0		0	B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	T	8.589	0.884064	0.17467	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.30448	1.53;1.53;1.53	5.27	5.27	0.74061	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.56097	D	0.000038	T	0.24392	0.0591	L	0.42581	1.335	0.58432	D	0.999997	B;B;B;B	0.09022	0.002;0.0;0.0;0.002	B;B;B;B	0.15052	0.012;0.008;0.008;0.008	T	0.07177	-1.0786	10	0.18710	T	0.47	-10.3519	9.9961	0.41900	0.1507:0.0:0.0:0.8493	.	21;125;137;130	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	R	137;110;130	ENSP00000407818:Q137R;ENSP00000390102:Q110R;ENSP00000423244:Q130R	ENSP00000407818:Q137R	Q	-	2	0	USP46	53187093	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	6.060000	0.71141	2.127000	0.65507	0.528000	0.53228	CAG			0.378	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361516.2		NM_022832	
BMP2K	55589	hgsc.bcm.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs376418550	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																					p.Q460H													BMP2K_ENST00000502871,NS,carcinoma,0,7	BMP2K_ENST00000502871	0	7	3	Substitution - Missense(3)	endometrium(2)|prostate(1)	c.G1380C												40.0	45.0	44.0					4																	79792085		2203	4300	6503	SO:0001583	missense	55589	exon11			TCACCAGCAGCAG	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His		44	0	0		50	0.06	3	NM_017593	0		0	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG			0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_017593	
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	126237899	126237899	+	Silent	SNP	T	T	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr4:126237899T>C	ENST00000394329.3	+	1	346	c.333T>C	c.(331-333)ctT>ctC	p.L111L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	111	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGTGGTCCTTTCCAGCGCGC	0.617											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L111L													FAT4_ENST00000394329,larynx,carcinoma,+2,2	FAT4_ENST00000394329	2	2	0			c.T333C												42.0	51.0	48.0					4																	126237899		2155	4260	6415	SO:0001819	synonymous_variant	79633	exon1			GGTCCTTTCCAGC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.333T>C	4.37:g.126237899T>C			60	0	0	1548	51	0.25	13	NM_024582	0		0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																					0.617	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256765.2		NM_024582	
SMARCA5	8467	hgsc.bcm.edu;broad.mit.edu	37	4	144445568	144445571	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	AGAA	AGAA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr4:144445568_144445571delAGAA	ENST00000283131.3	+	4	930_933	c.468_471delAGAA	c.(466-471)acagaafs	p.TE156fs		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	156					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AGCTATTAACAGAAAGCTCCAAAG	0.358																																					p.156_157del													.	.			0			c.467_470del																																									SO:0001589	frameshift_variant	8467	exon4			ATTAACAGAAAGC	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.468_471delAGAA	4.37:g.144445568_144445571delAGAA	ENSP00000283131:p.Thr156fs		371	0	0		380	0.19	73	NM_003601	1	0.00	0		Frame_Shift_Del	DEL	ENST00000283131.3	37	CCDS3761.1																																																																																					0.358	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365077.3			
CDH6	1004	broad.mit.edu	37	5	31323132	31323132	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr5:31323132T>C	ENST00000265071.2	+	12	2355	c.2090T>C	c.(2089-2091)cTt>cCt	p.L697P		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	697					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCGAAGCCCTTTTCCTACCC	0.527																																					p.L697P													CDH6,neck,malignant_melanoma,+1,1	CDH6	175	1	0			c.T2090C												86.0	81.0	83.0					5																	31323132		2203	4300	6503	SO:0001583	missense	1004	exon12			AAGCCCTTTTCCT	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2090T>C	5.37:g.31323132T>C	ENSP00000265071:p.Leu697Pro		164	0	0		163	0.02	3	NM_004932	0		0	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897370	0.33535	.	.	ENSG00000113361	ENST00000265071	T	0.76709	-1.04	5.66	5.66	0.87406	Cadherin, cytoplasmic domain (1);	0.175631	0.49916	D	0.000132	D	0.83658	0.5302	L	0.46157	1.445	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.81705	-0.0811	10	0.30854	T	0.27	.	16.2026	0.82095	0.0:0.0:0.0:1.0	.	697	P55285	CADH6_HUMAN	P	697	ENSP00000265071:L697P	ENSP00000265071:L697P	L	+	2	0	CDH6	31358889	1.000000	0.71417	0.970000	0.41538	0.090000	0.18270	6.180000	0.71981	2.285000	0.76669	0.533000	0.62120	CTT			0.527	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207355.2		NM_004932	
ZSWIM6	57688	broad.mit.edu	37	5	60628153	60628154	+	In_Frame_Ins	INS	-	-	GGC	rs374788320|rs565100893	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr5:60628153_60628154insGGC	ENST00000252744.5	+	1	54_55	c.54_55insGGC	c.(55-57)ggc>GGCggc	p.19_19G>GG		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	19	Gly-rich.				neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						GCTGCCGGCCGggcggcggcgg	0.782																																					p.P18delinsPG													.	ZSWIM6	51		0			c.54_55insGGC																																									SO:0001652	inframe_insertion	57688	exon1			CCGGCCGGGCGGC	BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.70_72dupGGC	5.37:g.60628160_60628162dupGGC	ENSP00000252744:p.Gly26dup		4	0	0		6	0.33	2	NM_020928	0		0		In_Frame_Ins	INS	ENST00000252744.5	37	CCDS47215.1																																																																																					0.782	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368710.1		NM_020928	
HSD17B4	3295	bcgsc.ca	37	5	118811418	118811418	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr5:118811418G>T	ENST00000256216.6	+	5	431	c.298G>T	c.(298-300)Gct>Tct	p.A100S	HSD17B4_ENST00000513628.1_5'Flank|HSD17B4_ENST00000510025.1_Missense_Mutation_p.A76S|HSD17B4_ENST00000414835.2_5'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.A125S|HSD17B4_ENST00000509514.1_5'Flank|HSD17B4_ENST00000515320.1_Missense_Mutation_p.A82S	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	100	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGTCAACAATGCTGGGTGAGT	0.284																																					p.A125S	Colon(35;490 801 34689 41394 43344)												.	HSD17B4	63		0			c.G373T												158.0	149.0	152.0					5																	118811418		2201	4300	6501	SO:0001583	missense	3295	exon6			AACAATGCTGGGT		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.298G>T	5.37:g.118811418G>T	ENSP00000256216:p.Ala100Ser		84	0	0		118	0.00	0	NM_001199291	0		0	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381487	0.95945	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811	D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81	5.67	5.67	0.87782	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.87617	2.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98657	1.0682	10	0.87932	D	0	-24.5025	19.3577	0.94421	0.0:0.0:1.0:0.0	.	125;82;76;100	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	S	100;82;76;125	ENSP00000256216:A100S;ENSP00000424613:A82S;ENSP00000424940:A76S;ENSP00000420914:A125S	ENSP00000256216:A100S	A	+	1	0	HSD17B4	118839317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.230000	0.65321	2.676000	0.91093	0.561000	0.74099	GCT			0.284	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250863.3		NM_000414	
EBF1	1879	bcgsc.ca	37	5	158158144	158158144	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr5:158158144T>C	ENST00000313708.6	-	11	1340	c.1058A>G	c.(1057-1059)gAt>gGt	p.D353G	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.D345G|EBF1_ENST00000380654.4_Missense_Mutation_p.D322G	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	353					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAACCATAATCGATGGTGGG	0.438			T	HMGA2	lipoma																																p.D353G				Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	EBF1	110		0			c.A1058G												64.0	65.0	65.0					5																	158158144		2203	4300	6503	SO:0001583	missense	1879	exon11			CCATAATCGATGG	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1058A>G	5.37:g.158158144T>C	ENSP00000322898:p.Asp353Gly		80	0	0		61	0.00	0	NM_024007	0		0	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818311	0.90790	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	D;D;D	0.88046	-2.33;-2.33;-2.33	5.51	5.51	0.81932	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.85197	2.74	0.80722	D	1	D;D;B;D	0.69078	0.997;0.994;0.122;0.985	D;D;B;P	0.69824	0.95;0.966;0.11;0.908	D	0.94711	0.7892	10	0.87932	D	0	-6.9183	15.9209	0.79570	0.0:0.0:0.0:1.0	.	353;340;353;322	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	G	353;353;322;345	ENSP00000322898:D353G;ENSP00000370029:D322G;ENSP00000428020:D345G	ENSP00000322898:D353G	D	-	2	0	EBF1	158090722	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	7.655000	0.83696	2.210000	0.71456	0.533000	0.62120	GAT			0.438	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000252649.1		NM_024007	
SLC22A23	63027	broad.mit.edu	37	6	3273475	3273476	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr6:3273475_3273476insT	ENST00000406686.3	-	10	1873_1874	c.1874_1875insA	c.(1873-1875)aacfs	p.N625fs	SLC22A23_ENST00000490273.1_Frame_Shift_Ins_p.N344fs|SLC22A23_ENST00000436008.2_Frame_Shift_Ins_p.N633fs|SLC22A23_ENST00000380302.4_Frame_Shift_Ins_p.N344fs|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	625					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TCTCAGGCAGGTTCTGGTCCCT	0.594																																					p.N625fs													.	SLC22A23	89		0			c.1875_1876insA																																									SO:0001589	frameshift_variant	63027	exon10			AGGCAGGTTCTGG	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1875dupA	6.37:g.3273477_3273477dupT	ENSP00000385028:p.Asn625fs		48	0	0		58	0.16	9	NM_015482	0		0	A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Frame_Shift_Ins	INS	ENST00000406686.3	37	CCDS47363.1																																																																																					0.594	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000353059.1		NM_021945	
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031				.													BTN2A3,NS,carcinoma,0,9	.		9	2	Substitution - Missense(2)	endometrium(1)|kidney(1)	.																																											0	.			ATGGAACCAGCTG	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T			96	0.0104166667	1		102	0.06	6	.	0		0	A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000040118.4		NR_027795	
ABT1	29777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	26598339	26598339	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr6:26598339G>T	ENST00000274849.1	+	2	469		c.e2+1			NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1						regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GAACCTCAAGGTGAGAAGATA	0.577																																					.													.	.			0			c.438+1G>T												53.0	51.0	52.0					6																	26598339		2203	4300	6503	SO:0001630	splice_region_variant	29777	exon2			CTCAAGGTGAGAA	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.438+1G>T	6.37:g.26598339G>T			105	0	0		119	0.15	18	NM_013375	1	1.00	1		Splice_Site	SNP	ENST00000274849.1	37	CCDS4616.1	.	.	.	.	.	.	.	.	.	.	.	19.48	3.836024	0.71373	.	.	ENSG00000146109	ENST00000274849	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4978	0.67700	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABT1	26706318	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	8.237000	0.89807	2.195000	0.70347	0.558000	0.71614	.			0.577	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043698.1			Intron
BEND6	221336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	56857323	56857323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr6:56857323C>T	ENST00000370746.3	+	3	537	c.268C>T	c.(268-270)Cga>Tga	p.R90*	BEND6_ENST00000370748.3_Nonsense_Mutation_p.R90*|BEND6_ENST00000370750.2_Nonsense_Mutation_p.R90*|BEND6_ENST00000370745.1_Nonsense_Mutation_p.R90*	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	90					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)	p.R90*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AGAAAACAGCCGACTTCGACA	0.363																																					p.R90X													BEND6,NS,carcinoma,0,1	BEND6	0	1	1	Substitution - Nonsense(1)	lung(1)	c.C268T												146.0	150.0	148.0					6																	56857323		1812	4076	5888	SO:0001587	stop_gained	221336	exon3			AACAGCCGACTTC	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.268C>T	6.37:g.56857323C>T	ENSP00000359782:p.Arg90*		88	0	0		138	0.18	25	NM_152731	1	0.00	0	Q4G0W8|Q8N662|Q96NS6	Nonsense_Mutation	SNP	ENST00000370746.3	37	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	C	36	5.619888	0.96660	.	.	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	5.13	5.13	0.70059	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0553	16.1023	0.81184	0.0:1.0:0.0:0.0	.	.	.	.	X	90	.	ENSP00000322773:R90X	R	+	1	2	BEND6	56965282	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.421000	0.59848	2.559000	0.86315	0.561000	0.74099	CGA			0.363	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041032.4		NM_152731	
REV3L	5980	hgsc.bcm.edu;broad.mit.edu	37	6	111804004	111804004	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr6:111804004C>A	ENST00000358835.3	-	2	542	c.88G>T	c.(88-90)Gcc>Tcc	p.A30S	TRAF3IP2-AS1_ENST00000440001.2_RNA|REV3L_ENST00000368805.1_Missense_Mutation_p.A30S|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|REV3L_ENST00000435970.1_5'UTR|TRAF3IP2-AS1_ENST00000532226.1_RNA|REV3L_ENST00000368802.3_Missense_Mutation_p.A30S|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000525151.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000420651.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	30					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTGACAGGGGCCTGGGTGAGG	0.692								DNA polymerases (catalytic subunits)																													p.A30S													.	.			0			c.G88T												17.0	21.0	20.0					6																	111804004		1817	4064	5881	SO:0001583	missense	5980	exon1			CAGGGGCCTGGGT	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.88G>T	6.37:g.111804004C>A	ENSP00000351697:p.Ala30Ser		75	0	0		73	0.25	18	NM_002912	0		0	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	0.123	-1.123539	0.01770	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835	T;T;T	0.01240	5.12;5.12;5.12	3.35	-4.6	0.03390	Ribonuclease H-like (1);	0.761893	0.12209	N	0.489558	T	0.00144	0.0004	N	0.01242	-0.935	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25222	-1.0138	10	0.07325	T	0.83	.	2.4295	0.04468	0.1159:0.4579:0.234:0.1922	.	30	O60673	DPOLZ_HUMAN	S	30	ENSP00000357792:A30S;ENSP00000357795:A30S;ENSP00000351697:A30S	ENSP00000351697:A30S	A	-	1	0	REV3L	111910697	1.000000	0.71417	0.359000	0.25824	0.049000	0.14656	1.217000	0.32455	-1.351000	0.02197	-1.358000	0.01219	GCC			0.692	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043695.1		NM_002912	
PRPS1L1	221823	broad.mit.edu	37	7	18067198	18067198	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:18067198G>T	ENST00000506618.2	-	1	288	c.208C>A	c.(208-210)Ctt>Att	p.L70I		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	70					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ATGATCAAAAGCTCCATTAGA	0.478																																					p.L70I													.	PRPS1L1	90		0			c.C208A												326.0	322.0	323.0					7																	18067198		2203	4300	6503	SO:0001583	missense	221823	exon1			TCAAAAGCTCCAT	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.208C>A	7.37:g.18067198G>T	ENSP00000424595:p.Leu70Ile		136	0	0		174	0.02	4	NM_175886	0		0	Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660793	0.67700	.	.	ENSG00000229937	ENST00000506618	D	0.93659	-3.26	4.67	3.79	0.43588	.	.	.	.	.	D	0.96907	0.8990	M	0.92317	3.295	.	.	.	D	0.55605	0.972	D	0.70016	0.967	D	0.98708	1.0703	8	0.54805	T	0.06	.	10.854	0.46786	0.0924:0.0:0.9076:0.0	.	70	P21108	PRPS3_HUMAN	I	70	ENSP00000424595:L70I	ENSP00000424595:L70I	L	-	1	0	PRPS1L1	18033723	1.000000	0.71417	0.983000	0.44433	0.835000	0.47333	8.816000	0.91979	1.338000	0.45544	0.650000	0.86243	CTT			0.478	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000327667.1		NM_175886	
GPNMB	10457	bcgsc.ca	37	7	23286485	23286486	+	Frame_Shift_Del	DEL	TC	TC	-	rs150499567	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	TC	TC					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:23286485_23286486delTC	ENST00000381990.2	+	1	170_171	c.9_10delTC	c.(7-12)tgtctcfs	p.L4fs	GPNMB_ENST00000453162.2_Frame_Shift_Del_p.L4fs|GPNMB_ENST00000409458.3_Frame_Shift_Del_p.L4fs|GPNMB_ENST00000539136.1_Frame_Shift_Del_p.L4fs|GPNMB_ENST00000258733.4_Frame_Shift_Del_p.L4fs	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	4					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GCATGGAATGTCTCTACTATTT	0.48																																					p.3_4del													.	GPNMB	88		0			c.9_10del																																									SO:0001589	frameshift_variant	10457	exon1			GGAATGTCTCTAC	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.9_10delTC	7.37:g.23286487_23286488delTC	ENSP00000371420:p.Leu4fs		84	0	0		98	0.00	0	NM_002510	0		0	A4D155|Q6UVX1|Q8N1A1	Frame_Shift_Del	DEL	ENST00000381990.2	37	CCDS34610.1																																																																																					0.480	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000327152.1		NM_001005340	
AVL9	23080	broad.mit.edu	37	7	32598232	32598232	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:32598232T>C	ENST00000318709.4	+	9	892	c.671T>C	c.(670-672)cTt>cCt	p.L224P	AVL9_ENST00000404479.1_Missense_Mutation_p.L224P|AVL9_ENST00000409301.1_Missense_Mutation_p.L224P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	224					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTGTTATCCCTTTTTCCAGGT	0.328																																					p.L224P													.	AVL9	66		0			c.T671C												111.0	111.0	111.0					7																	32598232		2203	4300	6503	SO:0001583	missense	23080	exon9			TATCCCTTTTTCC	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.671T>C	7.37:g.32598232T>C	ENSP00000315568:p.Leu224Pro		90	0.0111111111	1		135	0.03	4	NM_015060	0		0	Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366848	0.82463	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.84638	0.5516	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.78314	0.983;0.991;0.946	D	0.88174	0.2866	10	0.87932	D	0	-27.2944	15.2208	0.73310	0.0:0.0:0.0:1.0	.	224;224;224	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	P	224;224;224;224;155	ENSP00000315568:L224P;ENSP00000387011:L224P;ENSP00000385242:L224P;ENSP00000395134:L155P	ENSP00000315568:L224P	L	+	2	0	AVL9	32564757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.632000	0.61311	2.006000	0.58801	0.477000	0.44152	CTT			0.328	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000328643.1		NM_015060	
NYAP1	222950	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	100086782	100086782	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:100086782C>T	ENST00000300179.2	+	4	1597	c.1438C>T	c.(1438-1440)Ccc>Tcc	p.P480S	NYAP1_ENST00000454988.1_Missense_Mutation_p.P423S|NYAP1_ENST00000423930.1_Missense_Mutation_p.P480S	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	480					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGCTGGTCCACCCCTGGGTGC	0.647																																					p.P480S													.	.			0			c.C1438T												35.0	38.0	37.0					7																	100086782		2203	4298	6501	SO:0001583	missense	222950	exon4			GGTCCACCCCTGG	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1438C>T	7.37:g.100086782C>T	ENSP00000300179:p.Pro480Ser		54	0	0		75	0.25	19	NM_173564	0		0	Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	5.881	0.346774	0.11126	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.31769	1.48;1.48;1.48	4.56	2.67	0.31697	.	0.000000	0.45606	D	0.000345	T	0.12732	0.0309	N	0.14661	0.345	0.31707	N	0.640066	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.14448	-1.0472	10	0.11794	T	0.64	-15.7646	3.4868	0.07622	0.1735:0.5632:0.1683:0.095	.	423;480	C9JS30;Q6ZVC0	.;CG051_HUMAN	S	480;480;423	ENSP00000300179:P480S;ENSP00000411861:P480S;ENSP00000394424:P423S	ENSP00000300179:P480S	P	+	1	0	C7orf51	99924718	0.773000	0.28580	0.936000	0.37596	0.891000	0.51852	1.165000	0.31822	1.112000	0.41740	-0.314000	0.08810	CCC			0.647	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000339335.2		NM_173564	
MUC17	140453	bcgsc.ca	37	7	100680100	100680100	+	Silent	SNP	G	G	A	rs142682652	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:100680100G>A	ENST00000306151.4	+	3	5467	c.5403G>A	c.(5401-5403)tcG>tcA	p.S1801S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1801	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAACCTCGACTCTTAGTG	0.507													-|||	22	0.00439297	0.0121	0.0	5008	,	,		27811	0.002		0.0	False		,,,				2504	0.0041				p.S1801S													.	MUC17	804		0			c.G5403A												257.0	261.0	260.0					7																	100680100		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			AACCTCGACTCTT	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5403G>A	7.37:g.100680100G>A			104	0.0096153846	1		110	0.04	4	NM_001040105	0		0	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																					0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105	
MUC17	140453	bcgsc.ca	37	7	100680117	100680117	+	Missense_Mutation	SNP	T	T	C	rs147353603	byFrequency	TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr7:100680117T>C	ENST00000306151.4	+	3	5484	c.5420T>C	c.(5419-5421)aTg>aCg	p.M1807T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1807	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGAAGGAATGACTCCATTA	0.507													-|||	4	0.000798722	0.0008	0.0	5008	,	,		27011	0.003		0.0	False		,,,				2504	0.0				p.M1807T													.	MUC17	804		0			c.T5420C												250.0	253.0	252.0					7																	100680117		2203	4300	6503	SO:0001583	missense	140453	exon3			AAGGAATGACTCC	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5420T>C	7.37:g.100680117T>C	ENSP00000302716:p.Met1807Thr		99	0.0101010101	1		111	0.05	6	NM_001040105	0		0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.166907	0.00318	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.373	-0.746	0.11095	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48670	-0.9015	8	0.09338	T	0.73	.	.	.	.	.	1807	Q685J3	MUC17_HUMAN	T	1807	ENSP00000302716:M1807T	ENSP00000302716:M1807T	M	+	2	0	MUC17	100466837	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.274000	0.00531	-4.523000	0.00044	-3.958000	0.00015	ATG			0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105	
ZFHX4	79776	bcgsc.ca	37	8	77775665	77775665	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr8:77775665G>A	ENST00000521891.2	+	11	10163	c.9715G>A	c.(9715-9717)Gat>Aat	p.D3239N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3194N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3213N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3190N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACACATGTCGATCCTATTCA	0.448										HNSCC(33;0.089)																											p.D3239N													.	ZFHX4	878		0			c.G9715A												160.0	153.0	155.0					8																	77775665		1888	4121	6009	SO:0001583	missense	79776	exon11			CATGTCGATCCTA		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9715G>A	8.37:g.77775665G>A	ENSP00000430497:p.Asp3239Asn		93	0	0		119	0.00	0	NM_024721	0		0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657933	0.47467	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.62232	0.12;0.18;0.09;0.04	4.55	4.55	0.56014	.	0.000000	0.43416	U	0.000564	T	0.78117	0.4233	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.81035	-0.1115	10	0.72032	D	0.01	.	17.8708	0.88810	0.0:0.0:1.0:0.0	.	3194	Q86UP3-4	.	N	3239;3223;3194;3190;3213	ENSP00000430497:D3239N;ENSP00000399605:D3194N;ENSP00000050961:D3190N;ENSP00000430848:D3213N	ENSP00000050961:D3190N	D	+	1	0	ZFHX4	77938220	1.000000	0.71417	0.618000	0.29105	0.801000	0.45260	9.542000	0.98086	2.525000	0.85131	0.561000	0.74099	GAT			0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379197.2		NM_024721	
SCRIB	23513	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	144893427	144893427	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr8:144893427C>A	ENST00000320476.3	-	10	1001	c.995G>T	c.(994-996)gGg>gTg	p.G332V	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.G251V|SCRIB_ENST00000356994.2_Missense_Mutation_p.G332V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	332	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.G332V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACACAGCCCCCGATCTCGGG	0.667																																					p.G332V	Pancreas(51;966 1133 10533 14576 29674)												SCRIB,larynx,carcinoma,0,1	SCRIB	0	1	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G995T												30.0	24.0	26.0					8																	144893427		2198	4297	6495	SO:0001583	missense	23513	exon10			CAGCCCCCGATCT	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.995G>T	8.37:g.144893427C>A	ENSP00000322938:p.Gly332Val		71	0	0		81	0.30	24	NM_015356	2	0.00	0	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660274	0.47572	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.54071	2.14;0.59;1.79	3.14	3.14	0.36123	.	.	.	.	.	T	0.63616	0.2526	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.974;0.99	T	0.68123	-0.5492	9	0.87932	D	0	.	13.7309	0.62787	0.0:1.0:0.0:0.0	.	332;332	Q14160;Q14160-3	SCRIB_HUMAN;.	V	332;332;251	ENSP00000349486:G332V;ENSP00000322938:G332V;ENSP00000366756:G251V	ENSP00000322938:G332V	G	-	2	0	SCRIB	144965415	1.000000	0.71417	0.700000	0.30305	0.010000	0.07245	7.286000	0.78671	1.753000	0.51906	0.563000	0.77884	GGG			0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000382215.1		NM_015356	
SMARCA2	6595	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	2115838	2115838	+	Missense_Mutation	SNP	A	A	C	rs281875240		TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr9:2115838A>C	ENST00000382203.1	+	25	3682	c.3473A>C	c.(3472-3474)gAc>gCc	p.D1158A	SMARCA2_ENST00000382194.1_Missense_Mutation_p.D1158A|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D1158A|SMARCA2_ENST00000357248.2_Missense_Mutation_p.D1158A			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1158	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		D -> V (in NCBRS; dbSNP:rs281875240). {ECO:0000269|PubMed:22366787}.		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGGCCCAAGACCGAGCTCAC	0.572																																					p.D1158A													.	.			0			c.A3473C												28.0	26.0	27.0					9																	2115838		2202	4300	6502	SO:0001583	missense	6595	exon25			CCCAAGACCGAGC	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3473A>C	9.37:g.2115838A>C	ENSP00000371638:p.Asp1158Ala		199	0	0		229	0.19	43	NM_139045	0		0	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775964	0.70107	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.67	5.67	0.87782	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	N	0.26042	0.785	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.87578	0.985;0.996;0.998	T	0.81976	-0.0686	10	0.66056	D	0.02	-36.9631	15.9124	0.79482	1.0:0.0:0.0:0.0	.	759;1158;1158	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	A	1158	ENSP00000265773:D1158A;ENSP00000349788:D1158A;ENSP00000371638:D1158A;ENSP00000371629:D1158A	ENSP00000265773:D1158A	D	+	2	0	SMARCA2	2105838	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.164000	0.68074	0.460000	0.39030	GAC			0.572	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000051505.1		NM_003070	
ALDH1B1	219	broad.mit.edu	37	9	38396054	38396054	+	Silent	SNP	G	G	A			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr9:38396054G>A	ENST00000377698.3	+	2	462	c.309G>A	c.(307-309)cgG>cgA	p.R103R		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	103					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		AGCGGGGCCGGCTGCTGAACC	0.637																																					p.R103R													.	ALDH1B1	50		0			c.G309A												75.0	84.0	81.0					9																	38396054		2203	4300	6503	SO:0001819	synonymous_variant	219	exon2			GGGCCGGCTGCTG	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.309G>A	9.37:g.38396054G>A			60	0	0		44	0.09	4	NM_000692	0		0	B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	CCDS6615.1																																																																																					0.637	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052492.1			
RP11-383M4.6	0	broad.mit.edu	37	9	84545116	84545117	+	lincRNA	INS	-	-	TT	rs375617018		TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chr9:84545116_84545117insTT	ENST00000585776.1	-	0	4416				RP11-383M4.2_ENST00000427387.1_lincRNA|SPATA31D4_ENST00000341875.4_RNA																							CCACCGCCttcttttttttttt	0.391																																					.													.	.			0			.																																											0	.			CGCCTTCTTTTTT																													9.37:g.84545125_84545126dupTT			80	0	0		103	0.04	4	.	0		0		RNA	INS	ENST00000585776.1	37																																																																																						0.391	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000453562.1			
ATRX	546	broad.mit.edu	37	X	76855029	76855029	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chrX:76855029T>C	ENST00000373344.5	-	25	6021	c.5807A>G	c.(5806-5808)aAg>aGg	p.K1936R	ATRX_ENST00000395603.3_Missense_Mutation_p.K1898R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1936	Poly-Lys.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.K1936T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTTTTCCCCTTTTTCCCTTT	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.K1936R				Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	ATRX	833		3	Substitution - Missense(2)|Unknown(1)	lung(2)|bone(1)	c.A5807G												329.0	308.0	315.0					X																	76855029		2203	4295	6498	SO:0001583	missense	546	exon25			TTCCCCTTTTTCC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5807A>G	X.37:g.76855029T>C	ENSP00000362441:p.Lys1936Arg		205	0	0		336	0.02	7	NM_000489	0		0	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.468878	0.26335	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92647	-3.07;-3.08	5.64	0.648	0.17801	.	0.202398	0.40469	N	0.001084	T	0.82217	0.4989	N	0.16903	0.455	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.67492	-0.5657	10	0.38643	T	0.18	-2.2976	8.217	0.31519	0.0:0.3103:0.0:0.6897	.	1898;1936	P46100-4;P46100	.;ATRX_HUMAN	R	1936;1898	ENSP00000362441:K1936R;ENSP00000378967:K1898R	ENSP00000362441:K1936R	K	-	2	0	ATRX	76741685	0.758000	0.28405	0.831000	0.32960	0.973000	0.67179	1.172000	0.31908	-0.241000	0.09681	-0.330000	0.08379	AAG			0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058860.2		NM_000489	
RP11-1007I13.4	0	broad.mit.edu	37	X	151290002	151290003	+	RNA	INS	-	-	T	rs200557971		TCGA-2G-AAKG-05A-11D-A42Y-10	TCGA-2G-AAKG-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9c47b6d-b71f-41d0-a5cc-075325b322a6	86018e7d-245a-41de-93d6-ff5b5d81db55	g.chrX:151290002_151290003insT	ENST00000509345.2	-	0	172																											TGCTGATATTGTTTTTTTTTTT	0.391																																					.													.	.			0			.																																											0	.			GATATTGTTTTTT																													X.37:g.151290013_151290013dupT			4	0	0		5	0.40	2	.	0		0		RNA	INS	ENST00000509345.2	37																																																																																						0.391	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript		OTTHUMT00000445981.1			
