#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TACC2	10579	broad.mit.edu	37	10	123843740	123843740	+	Missense_Mutation	SNP	C	C	A	rs368976938		TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr10:123843740C>A	ENST00000369005.1	+	4	2065	c.1725C>A	c.(1723-1725)agC>agA	p.S575R	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S575R|TACC2_ENST00000334433.3_Missense_Mutation_p.S575R|TACC2_ENST00000515603.1_Missense_Mutation_p.S575R|TACC2_ENST00000453444.2_Missense_Mutation_p.S575R	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	575					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGGTGACAGCCCTGGAGGAA	0.602																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1723-1725)agC>agA		transforming, acidic coiled-coil containing protein 2							62.0	69.0	67.0					10																	123843740		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843740C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1725C>A	10.37:g.123843740C>A	ENSP00000358001:p.Ser575Arg					TACC2_ENST00000515603.1_Missense_Mutation_p.S575R|TACC2_ENST00000515273.1_Missense_Mutation_p.S575R|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S575R|TACC2_ENST00000453444.2_Missense_Mutation_p.S575R|TACC2_ENST00000358010.1_Intron	p.S575R	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2065	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	575					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.1725C>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414327	0.25465	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03065	4.07;4.06;4.06;4.07;4.06	5.0	3.16	0.36331	.	1.187430	0.06422	N	0.722484	T	0.03220	0.0094	N	0.14661	0.345	0.09310	N	1	B;B;B	0.26775	0.159;0.159;0.159	B;B;B	0.23574	0.047;0.047;0.047	T	0.44922	-0.9296	10	0.87932	D	0	-0.0241	7.6073	0.28110	0.0:0.8081:0.0:0.1919	.	575;575;575	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	R	575;575;575;575;575;565	ENSP00000358001:S575R;ENSP00000424467:S575R;ENSP00000427618:S575R;ENSP00000334280:S575R;ENSP00000395048:S575R	ENSP00000334280:S575R	S	+	3	2	TACC2	123833730	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.461000	0.21940	0.709000	0.31976	-0.258000	0.10820	AGC		0.602	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			20	59	1	0	1.64113e-05	1	1.94505e-05	20	59				
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA|RNU6-1268P_ENST00000391214.1_RNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		4	102	0	0	0	1	0	4	102				
ACTL8	81569	broad.mit.edu	37	1	18152586	18152586	+	Missense_Mutation	SNP	C	C	T	rs267598220		TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr1:18152586C>T	ENST00000375406.1	+	3	889	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	225					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGACTTTCGTGAGAGGCA	0.597											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375406.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(673-675)Cgt>Tgt		actin-like 8							48.0	52.0	50.0					1																	18152586		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152586C>T	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.673C>T	1.37:g.18152586C>T	ENSP00000364555:p.Arg225Cys		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.R225C	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	889	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	225					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.673C>T	CCDS183.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665005	0.29604	.	.	ENSG00000117148	ENST00000375406	T	0.08008	3.14	4.07	-4.68	0.03309	.	2.015510	0.02199	N	0.062080	T	0.05456	0.0144	N	0.22421	0.69	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.36817	-0.9732	10	0.87932	D	0	0.0	2.1038	0.03686	0.1422:0.2066:0.1406:0.5106	.	225	Q9H568	ACTL8_HUMAN	C	225	ENSP00000364555:R225C	ENSP00000364555:R225C	R	+	1	0	ACTL8	18025173	0.096000	0.21769	0.000000	0.03702	0.076000	0.17211	0.882000	0.28186	-1.024000	0.03338	0.591000	0.81541	CGT		0.597	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		13	43	0	0	0	1	0	13	43				
HS1BP3	64342	broad.mit.edu	37	2	20818912	20818912	+	Silent	SNP	C	C	T			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr2:20818912C>T	ENST00000304031.3	-	7	1039	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	338	Pro-rich.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGTATCACCGGCTTAGCTG	0.597																																						ENST00000304031.3																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(1012-1014)ccG>ccA		HCLS1 binding protein 3							83.0	86.0	85.0					2																	20818912		2203	4300	6503	SO:0001819	synonymous_variant	64342				cell communication		phosphatidylinositol binding	g.chr2:20818912C>T		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.1014G>A	2.37:g.20818912C>T							p.P338P	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN			7	1039	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		338			Pro-rich.		B2RAW2|D6W529|Q86VC2|Q8N367	Silent	SNP	ENST00000304031.3	37	c.1014G>A	CCDS1700.1																																																																																				0.597	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		6	173	0	0	0	1	0	6	173				
KL	9365	broad.mit.edu	37	13	33638043	33638043	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr13:33638043G>A	ENST00000380099.3	+	5	2767	c.2759G>A	c.(2758-2760)cGc>cAc	p.R920H	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	920	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.R920H(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTTAACGACCGCACAGCTCCG	0.418																																						ENST00000380099.3																			1	Substitution - Missense(1)	p.R920H(1)	ovary(1)	breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2758-2760)cGc>cAc		klotho							162.0	161.0	161.0					13																	33638043		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33638043G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2759G>A	13.37:g.33638043G>A	ENSP00000369442:p.Arg920His					KL_ENST00000487852.1_3'UTR	p.R920H	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	5	2767	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	920			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.2759G>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446141	0.43429	.	.	ENSG00000133116	ENST00000380099	T	0.29917	1.55	5.33	4.48	0.54585	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.122451	0.56097	D	0.000037	T	0.29524	0.0736	L	0.57536	1.79	0.35545	D	0.803359	P	0.46656	0.882	B	0.39379	0.298	T	0.47446	-0.9117	10	0.59425	D	0.04	-19.3595	11.0489	0.47876	0.1617:0.0:0.8383:0.0	.	920	Q9UEF7	KLOT_HUMAN	H	920	ENSP00000369442:R920H	ENSP00000369442:R920H	R	+	2	0	KL	32536043	0.868000	0.29978	0.947000	0.38551	0.024000	0.10985	1.421000	0.34815	1.242000	0.43836	0.655000	0.94253	CGC		0.418	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			5	193	0	0	0	1	0	5	193				
DNAAF2	55172	broad.mit.edu	37	14	50092335	50092335	+	Silent	SNP	A	A	G			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr14:50092335A>G	ENST00000298292.8	-	3	2519	c.2439T>C	c.(2437-2439)agT>agC	p.S813S	RP11-649E7.5_ENST00000555043.1_RNA|DNAAF2_ENST00000406043.3_Silent_p.S765S	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	813					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TGACCTGCACACTACCATCCT	0.333																																						ENST00000298292.8																			0				kidney(1)|lung(4)	5						c.(2437-2439)agT>agC		dynein, axonemal, assembly factor 2							156.0	145.0	149.0					14																	50092335		2203	4300	6503	SO:0001819	synonymous_variant	55172				axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50092335A>G	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2439T>C	14.37:g.50092335A>G						DNAAF2_ENST00000406043.3_Silent_p.S765S	p.S813S	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN			3	2519	-			813					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	c.2439T>C	CCDS9691.2																																																																																				0.333	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			5	103	0	0	0	1	0	5	103				
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14.0	19.0	17.0					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	41	0	0	0	1	0	4	41				
TTLL1	25809	broad.mit.edu	37	22	43465690	43465690	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr22:43465690C>T	ENST00000266254.7	-	4	514	c.274G>A	c.(274-276)Ggg>Agg	p.G92R	TTLL1_ENST00000331018.7_Missense_Mutation_p.G92R	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	92	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		AGAGGACTCCCTTCTTTCTCC	0.428																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(274-276)Ggg>Agg		tubulin tyrosine ligase-like family, member 1							210.0	208.0	209.0					22																	43465690		2203	4300	6503	SO:0001583	missense	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43465690C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.274G>A	22.37:g.43465690C>T	ENSP00000266254:p.Gly92Arg					TTLL1_ENST00000266254.7_Missense_Mutation_p.G92R	p.G92R			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	4	514	-		Ovarian(80;0.0694)	92			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	c.274G>A	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001923	0.54254	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.06371	3.31;3.56	5.89	5.89	0.94794	.	0.281698	0.40640	N	0.001043	T	0.15609	0.0376	M	0.73598	2.24	0.80722	D	1	B;B	0.21606	0.056;0.058	B;B	0.31337	0.115;0.128	T	0.01800	-1.1271	10	0.54805	T	0.06	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	92;92	O95922-4;O95922	.;TTLL1_HUMAN	R	92	ENSP00000333734:G92R;ENSP00000266254:G92R	ENSP00000266254:G92R	G	-	1	0	TTLL1	41795634	0.987000	0.35691	0.330000	0.25442	0.789000	0.44602	2.325000	0.43840	2.788000	0.95919	0.557000	0.71058	GGG		0.428	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		40	196	0	0	0	1	0	40	196				
LUM	4060	broad.mit.edu	37	12	91502054	91502054	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr12:91502054G>A	ENST00000266718.4	-	2	1157	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	235					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.R235C(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TGAGATAAACGCAGATACTGC	0.403																																						ENST00000266718.4																			1	Substitution - Missense(1)	p.R235C(1)	endometrium(1)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(703-705)Cgt>Tgt		lumican							164.0	153.0	157.0					12																	91502054		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502054G>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.703C>T	12.37:g.91502054G>A	ENSP00000266718:p.Arg235Cys					LUM_ENST00000548071.1_5'UTR	p.R235C	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	1157	-			235					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.703C>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069027	0.76301	.	.	ENSG00000139329	ENST00000266718	T	0.57595	0.39	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.71298	0.3323	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72666	-0.4224	10	0.72032	D	0.01	-6.2831	19.5537	0.95331	0.0:0.0:1.0:0.0	.	235	P51884	LUM_HUMAN	C	235	ENSP00000266718:R235C	ENSP00000266718:R235C	R	-	1	0	LUM	90026185	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.784000	0.68990	2.614000	0.88457	0.557000	0.71058	CGT		0.403	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		49	87	0	0	0	1	0	49	87				
PSG2	5670	broad.mit.edu	37	19	43585116	43585116	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr19:43585116T>C	ENST00000406487.1	-	2	445	c.347A>G	c.(346-348)gAc>gGc	p.D116G	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	116	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGATCCTGCGTCCTCCCGGGT	0.453																																						ENST00000406487.1																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(346-348)gAc>gGc		pregnancy specific beta-1-glycoprotein 2							106.0	107.0	106.0					19																	43585116		2200	4278	6478	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43585116T>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.347A>G	19.37:g.43585116T>C	ENSP00000385706:p.Asp116Gly						p.D116G	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			2	445	-		Prostate(69;0.00682)	116			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.347A>G	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	10.41	1.342206	0.24339	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	D	0.88046	-2.33	0.569	0.569	0.17340	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93729	0.7996	M	0.93016	3.37	0.09310	N	1	D;D	0.89917	1.0;0.985	D;D	0.87578	0.998;0.958	D	0.84359	0.0537	8	0.87932	D	0	.	.	.	.	.	116;116	B5MCM8;P11465	.;PSG2_HUMAN	G	116	ENSP00000385706:D116G	ENSP00000332984:D116G	D	-	2	0	PSG2	48276956	0.010000	0.17322	0.003000	0.11579	0.004000	0.04260	1.702000	0.37836	0.477000	0.27464	0.155000	0.16302	GAC		0.453	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		123	182	0	0	0	1	0	123	182				
STX8	9482	broad.mit.edu	37	17	9153924	9153924	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr17:9153924C>T	ENST00000306357.4	-	8	1109	c.682G>A	c.(682-684)Gtg>Atg	p.V228M	STX8_ENST00000574431.1_Missense_Mutation_p.V117M	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	228					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						GCAACAACCACGATAGCCACA	0.463																																						ENST00000306357.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						c.(682-684)Gtg>Atg		syntaxin 8							124.0	110.0	115.0					17																	9153924		2202	4297	6499	SO:0001583	missense	9482				transport	endoplasmic reticulum|integral to plasma membrane		g.chr17:9153924C>T	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.682G>A	17.37:g.9153924C>T	ENSP00000305255:p.Val228Met					STX8_ENST00000574431.1_Missense_Mutation_p.V117M	p.V228M	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN			8	1109	-			228					O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	c.682G>A	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700791	0.48307	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.1	5.1	0.69264	.	0.196490	0.43579	D	0.000544	T	0.63931	0.2553	M	0.78049	2.395	0.80722	D	1	D	0.58970	0.984	P	0.45474	0.482	T	0.71494	-0.4576	9	0.66056	D	0.02	-20.7714	15.8147	0.78592	0.0:1.0:0.0:0.0	.	228	Q9UNK0	STX8_HUMAN	M	228	.	ENSP00000305255:V228M	V	-	1	0	STX8	9094649	0.990000	0.36364	0.986000	0.45419	0.402000	0.30811	2.780000	0.47742	2.642000	0.89623	0.655000	0.94253	GTG		0.463	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853		4	12	0	0	0	1	0	4	12				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	67	0	0	0	1	0	4	67				
SMU1	55234	broad.mit.edu	37	9	33068870	33068870	+	Silent	SNP	G	G	A	rs113018466		TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19589	0.0		0.0	False		,,,				2504	0.0					ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(451-453)ggC>ggT		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)		G		10,4396	17.9+/-39.9	0,10,2193	191.0	152.0	166.0		453	-0.1	1.0	9	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	SMU1	NM_018225.2		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		151/514	33068870	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33068870G>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.453C>T	9.37:g.33068870G>A						SMU1_ENST00000536631.1_5'UTR	p.G151G	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	4	503	-			151					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.453C>T	CCDS6534.1																																																																																				0.507	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		3	39	0	0	0	1	0	3	39				
SMG1	23049	broad.mit.edu	37	16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	rs190057031	byFrequency	TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000389467.3_Missense_Mutation_p.S12G|CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000567737.1_5'UTR			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736													T|||	19	0.00379393	0.0038	0.0072	5008	,	,		9587	0.001		0.006	False		,,,				2504	0.002					ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(34-36)Agc>Ggc		SMG1 phosphatidylinositol 3-kinase-related kinase							3.0	5.0	4.0					16																	18937330		1189	3103	4292	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18937330T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.34A>G	16.37:g.18937330T>C	ENSP00000402515:p.Ser12Gly					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G	p.S12G			Q96Q15	SMG1_HUMAN			1	446	-			12			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.34A>G	CCDS45430.1	56	0.02564102564102564	34	0.06910569105691057	10	0.027624309392265192	3	0.005244755244755245	9	0.011873350923482849	t	16.40	3.112756	0.56398	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01252	5.1;5.1	4.19	4.19	0.49359	.	0.256528	0.31134	N	0.008187	T	0.00144	0.0004	N	0.19112	0.55	0.30658	N	0.754677	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.72032	D	0.01	.	6.7847	0.23668	0.0:0.1536:0.0:0.8464	.	12	Q96Q15	SMG1_HUMAN	G	12	ENSP00000402515:S12G;ENSP00000374118:S12G	ENSP00000374118:S12G	S	-	1	0	SMG1	18844831	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.875000	0.48491	1.749000	0.51849	0.374000	0.22700	AGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		3	17	0	0	0	1	0	3	17				
PROS1	5627	broad.mit.edu	37	3	93646235	93646235	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr3:93646235C>A	ENST00000394236.3	-	2	409	c.93G>T	c.(91-93)caG>caT	p.Q31H	PROS1_ENST00000407433.1_De_novo_Start_OutOfFrame	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	31					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CTTGTGAAGCCTGTTGCTTTG	0.318																																						ENST00000407433.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46								protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						62.0	60.0	61.0					3																	93646235		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646235C>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.93G>T	3.37:g.93646235C>A	ENSP00000377783:p.Gln31His					PROS1_ENST00000394236.3_Missense_Mutation_p.Q31H				P07225	PROS_HUMAN			0	260	-								A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Translation_Start_Site	SNP	ENST00000394236.3	37		CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	1.618	-0.522310	0.04141	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.92699	-2.67;-3.09	4.53	0.832	0.18867	Gamma-carboxyglutamic acid-rich (GLA) domain (1);	0.632548	0.16629	N	0.206133	T	0.71937	0.3399	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57596	-0.7784	10	0.19590	T	0.45	.	3.8604	0.08993	0.6574:0.1394:0.0775:0.1257	.	31	P07225	PROS_HUMAN	H	31;63	ENSP00000377783:Q31H;ENSP00000330021:Q63H	ENSP00000330021:Q63H	Q	-	3	2	PROS1	95128925	0.989000	0.36119	0.773000	0.31616	0.581000	0.36288	2.070000	0.41491	0.323000	0.23307	-0.558000	0.04189	CAG		0.318	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		4	58	1	0	0.00024832	1	0.000274008	4	58				
IGSF22	283284	broad.mit.edu	37	11	18732256	18732256	+	Nonsense_Mutation	SNP	G	G	A	rs531575688		TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr11:18732256G>A	ENST00000513874.1	-	16	2657	c.2518C>T	c.(2518-2520)Cga>Tga	p.R840*	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	838	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTCTTCCTTCGTTCTACAATG	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19675	0.0		0.0	False		,,,				2504	0.0					ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(2518-2520)Cga>Tga		immunoglobulin superfamily, member 22							77.0	77.0	77.0					11																	18732256		1930	4128	6058	SO:0001587	stop_gained	283284							g.chr11:18732256G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2518C>T	11.37:g.18732256G>A	ENSP00000421191:p.Arg840*					RP11-1081L13.4_ENST00000527285.1_RNA	p.R840*	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			16	2657	-			838			Fibronectin type-III 2.		A6NNA0|D6RGV7	Nonsense_Mutation	SNP	ENST00000513874.1	37	c.2518C>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	39	7.898750	0.98551	.	.	ENSG00000179057	ENST00000513874	.	.	.	4.29	-0.477	0.12097	.	0.297010	0.17745	U	0.163438	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.2318	0.06751	0.0954:0.1283:0.2409:0.5353	.	.	.	.	X	840	.	ENSP00000322422:R739X	R	-	1	2	IGSF22	18688832	0.077000	0.21312	0.002000	0.10522	0.993000	0.82548	1.010000	0.29898	0.072000	0.16694	0.563000	0.77884	CGA		0.567	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		29	14	0	0	0	1	0	29	14				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		5	47	0	0	0	1	0	5	47				
FAM104B	90736	broad.mit.edu	37	X	55172537	55172537	+	Intron	SNP	G	G	A	rs1047054	byFrequency	TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chrX:55172537G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000425133.2_Nonsense_Mutation_p.R111*|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000472571.2_3'UTR			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B									p.R111*(5)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GCTTGCCCTCGCTGCTGCAGG	0.438																																						ENST00000425133.2																			5	Substitution - Nonsense(5)	p.R111*(5)	endometrium(3)|kidney(2)	endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(331-333)Cga>Tga		family with sequence similarity 104, member B							40.0	26.0	30.0					X																	55172537		692	1590	2282	SO:0001627	intron_variant	90736							g.chrX:55172537G>A	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+76C>T	X.37:g.55172537G>A						FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR	p.R111*	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			3	369	-			0					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Nonsense_Mutation	SNP	ENST00000358460.4	37	c.331C>T	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937798	0.52972	.	.	ENSG00000182518	ENST00000425133;ENST00000477847;ENST00000489298	.	.	.	1.59	0.637	0.17735	.	.	.	.	.	.	.	.	.	.	.	0.26565	N	0.973663	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5036	0.11876	0.0:0.0:0.6198:0.3802	rs1047054;rs3175708;rs5003324	.	.	.	X	111;107;109	.	ENSP00000397188:R111X	R	-	1	2	FAM104B	55189262	0.997000	0.39634	0.180000	0.23079	0.415000	0.31203	1.026000	0.30103	0.126000	0.18424	0.429000	0.28392	CGA		0.438	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		3	27	0	0	0	1	0	3	27				
PRDM2	7799	broad.mit.edu	37	1	14106458	14106458	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr1:14106458C>A	ENST00000235372.7	+	8	3024	c.2168C>A	c.(2167-2169)gCa>gAa	p.A723E	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.A522E|PRDM2_ENST00000343137.4_Missense_Mutation_p.A522E|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A723E	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	723					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)		TCTGCTCCTGCATCAATGTTG	0.473																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(2167-2169)gCa>gAa		PR domain containing 2, with ZNF domain							100.0	97.0	98.0					1																	14106458		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14106458C>A	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.2168C>A	1.37:g.14106458C>A	ENSP00000235372:p.Ala723Glu					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.A522E|PRDM2_ENST00000343137.4_Missense_Mutation_p.A522E|PRDM2_ENST00000311066.5_Missense_Mutation_p.A723E	p.A723E	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	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)	8	3024	+	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)	723					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.2168C>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265454	0.40095	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01629	4.84;4.72;4.73;4.73	5.61	5.61	0.85477	.	0.315841	0.30277	N	0.009981	T	0.07143	0.0181	L	0.51422	1.61	0.30078	N	0.809425	D;P;D;D	0.69078	0.994;0.933;0.997;0.996	P;B;P;P	0.62184	0.795;0.357;0.879;0.899	T	0.02424	-1.1161	10	0.38643	T	0.18	.	18.5649	0.91113	0.0:1.0:0.0:0.0	.	723;581;723;723	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	E	723;723;723;522;522	ENSP00000235372:A723E;ENSP00000312352:A723E;ENSP00000411103:A522E;ENSP00000341621:A522E	ENSP00000235372:A723E	A	+	2	0	PRDM2	13979045	0.995000	0.38212	0.781000	0.31783	0.966000	0.64601	3.097000	0.50251	2.793000	0.96121	0.655000	0.94253	GCA		0.473	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		4	89	1	0	0.000602214	1	0.000642362	4	89				
DNM1P47	100216544	broad.mit.edu	37	15	102304743	102304743	+	RNA	SNP	G	G	T			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr15:102304743G>T	ENST00000561463.1	+	0	12789									DNM1 pseudogene 47																		GACACTCGTGGAGGAGTCGGC	0.612																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102304743G>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304743G>T														0	12789	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.612	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	26	1	0	1.12685e-05	1	1.38689e-05	4	26				
FAM63A	55793	broad.mit.edu	37	1	150975138	150975138	+	5'UTR	SNP	C	C	A			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr1:150975138C>A	ENST00000361936.5	-	0	910				FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361738.6_Missense_Mutation_p.V34F|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A							extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGTTTACTAACCTCAGGGACT	0.517																																						ENST00000361738.6																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(100-102)Gtt>Ttt		family with sequence similarity 63, member A							30.0	30.0	30.0					1																	150975138		2202	4292	6494	SO:0001623	5_prime_UTR_variant	55793						protein binding	g.chr1:150975138C>A	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.-45G>T	1.37:g.150975138C>A						FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361936.5_5'UTR|FAM63A_ENST00000470877.1_Intron	p.V34F	NM_001163258.1	NP_001156730.1	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	319	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		0					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.100G>T	CCDS976.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799353	0.31869	.	.	ENSG00000143409	ENST00000361738	T	0.50548	0.74	5.18	0.954	0.19595	.	1.506690	0.04677	N	0.411660	T	0.08492	0.0211	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.15263	-1.0443	9	0.14252	T	0.57	-0.0576	1.9788	0.03422	0.1735:0.5036:0.1456:0.1774	.	34	Q8N5J2-3	.	F	34	ENSP00000354669:V34F	ENSP00000354669:V34F	V	-	1	0	FAM63A	149241762	0.001000	0.12720	0.008000	0.14137	0.039000	0.13416	0.538000	0.23160	0.284000	0.22305	-0.150000	0.13652	GTT		0.517	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		13	21	1	0	2.27111e-07	1	2.90702e-07	13	21				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	23	0	0	0	1	0	3	23				
BAGE2	85319	broad.mit.edu	37	21	11039035	11039035	+	RNA	SNP	A	A	G			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr21:11039035A>G	ENST00000470054.1	-	0	1168							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAATTGTAGGAGTCATTTCAG	0.378																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039035A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039035A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1168	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.378	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		23	604	0	0	0	1	0	23	604				
TLR4	7099	broad.mit.edu	37	9	120474689	120474689	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr9:120474689G>T	ENST00000355622.6	+	3	384	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	TLR4_ENST00000394487.4_Missense_Mutation_p.D55Y|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	95					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GACAATTGAAGATGGGGCATA	0.378																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(283-285)Gat>Tat		toll-like receptor 4							42.0	42.0	42.0					9																	120474689		2203	4299	6502	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120474689G>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.283G>T	9.37:g.120474689G>T	ENSP00000363089:p.Asp95Tyr					TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D55Y	p.D95Y	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	384	+			95					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.283G>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288304	0.40494	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.59772	0.24;5.5	5.63	5.63	0.86233	.	0.083521	0.51477	D	0.000093	T	0.69214	0.3086	L	0.45422	1.42	0.50039	D	0.999844	D	0.63046	0.992	P	0.61397	0.888	T	0.70960	-0.4730	10	0.87932	D	0	.	19.6898	0.95996	0.0:0.0:1.0:0.0	.	95	O00206	TLR4_HUMAN	Y	55;95	ENSP00000377997:D55Y;ENSP00000363089:D95Y	ENSP00000363089:D95Y	D	+	1	0	TLR4	119514510	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	3.666000	0.54540	2.669000	0.90835	0.655000	0.94253	GAT		0.378	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		3	32	1	0	0.115264	1	0.115264	3	32				
LOC101927209	101927209	broad.mit.edu	37	1	142699953	142699954	+	lincRNA	INS	-	-	A	rs199580941|rs200844453|rs566324966	byFrequency	TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr1:142699953_142699954insA	ENST00000610091.1	-	0	3130																											tatatatatatatatatatata	0.257																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142699953_142699954insA																													1.37:g.142699954_142699954dupA														0	2077	-									RNA	INS	ENST00000610091.1	37																																																																																						0.257	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			2	4						2	4	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300803	74300804	+	RNA	INS	-	-	A			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr7:74300803_74300804insA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TCTTCATACTTAAAAAAAAAAA	0.455																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														442582					nucleus	binding	g.chr7:74300803_74300804insA			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300814_74300814dupA										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	INS	ENST00000423186.1	37																																																																																						0.455	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		2	4						2	4	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101076229	101076229	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr8:101076229delT	ENST00000360863.6	-	8	961	c.767delA	c.(766-768)aagfs	p.K256fs	RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	256					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGATGGGTCCTTTTTTGTCCT	0.328																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(766-768)agfs		regulator of G-protein signaling 22							132.0	137.0	136.0					8																	101076229		1803	4063	5866	SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101076229delT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.767delA	8.37:g.101076229delT	ENSP00000354109:p.Lys256fs					RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs	p.K256fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	961	-			256					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Del	DEL	ENST00000360863.6	37	c.767delA	CCDS43758.1																																																																																				0.328	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		8	400						8	400	---	---	---	---
TRDV2	28517	broad.mit.edu	37	14	22892202	22892202	+	RNA	DEL	A	A	-			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr14:22892202delA	ENST00000390469.2	+	0	520				AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000541008.1_RNA					T cell receptor delta variable 2																		ctaaaaatacaaaaaaaaaaa	0.547																																						ENST00000514473.2																			0																																																			101929735							g.chr14:22892202delA	X15207		14q11.2	2012-02-07			ENSG00000211821	ENSG00000211821		"""T cell receptors / TRD locus"""	12263	other	T cell receptor gene						2526321	Standard	NG_001332		Approved	hDV102S1, MGC117421			OTTHUMG00000170843		14.37:g.22892202delA						AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000537850.1_RNA								0	225	-									RNA	DEL	ENST00000390469.2	37																																																																																						0.547	TRDV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410669.1	NG_001332		2	4						2	4	---	---	---	---
GSE1	23199	broad.mit.edu	37	16	85682290	85682290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr16:85682290delC	ENST00000253458.7	+	3	535	c.359delC	c.(358-360)accfs	p.T120fs	GSE1_ENST00000405402.2_Frame_Shift_Del_p.T16fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.T47fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	120								p.V123fs*2(1)									GTGCCCAGCACCCCCCCCGTG	0.687																																						ENST00000253458.7																			1	Deletion - Frameshift(1)	p.V123fs*2(1)	ovary(1)								c.(358-360)acfs		Gse1 coiled-coil protein							64.0	64.0	64.0					16																	85682290		2197	4300	6497	SO:0001589	frameshift_variant	23199							g.chr16:85682290delC	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.359delC	16.37:g.85682290delC	ENSP00000253458:p.Thr120fs					GSE1_ENST00000393243.1_Frame_Shift_Del_p.T47fs|GSE1_ENST00000405402.2_Frame_Shift_Del_p.T16fs	p.T120fs	NM_014615.2	NP_055430.1					3	535	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Del	DEL	ENST00000253458.7	37	c.359delC	CCDS10952.1																																																																																				0.687	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		8	113						8	113	---	---	---	---
MAP1LC3B	81631	broad.mit.edu	37	16	87426052	87426052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr16:87426052delT	ENST00000268607.5	+	1	647	c.19delT	c.(19-21)ttcfs	p.F7fs	MAP1LC3B_ENST00000565788.1_Frame_Shift_Del_p.F7fs|MAP1LC3B_ENST00000534986.1_5'Flank	NM_022818.4	NP_073729.1	Q9GZQ8	MLP3B_HUMAN	microtubule-associated protein 1 light chain 3 beta	7					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasmic vesicle (GO:0031410)|intracellular (GO:0005622)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(80;0.0249)		GGAGAAGACCTTCAAGCAGCG	0.786																																						ENST00000268607.5																			0				endometrium(1)|lung(2)	3						c.(19-21)tcfs		microtubule-associated protein 1 light chain 3 beta							2.0	3.0	2.0					16																	87426052		1694	3476	5170	SO:0001589	frameshift_variant	81631				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr16:87426052delT	AF087871	CCDS10960.1	16q24.2	2014-02-12			ENSG00000140941	ENSG00000140941			13352	protein-coding gene	gene with protein product		609604					Standard	NM_022818		Approved	ATG8F	uc002fjx.3	Q9GZQ8	OTTHUMG00000137654	ENST00000268607.5:c.19delT	16.37:g.87426052delT	ENSP00000268607:p.Phe7fs					MAP1LC3B_ENST00000565788.1_Frame_Shift_Del_p.F7fs	p.F7fs	NM_022818.4	NP_073729.1	Q9GZQ8	MLP3B_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0249)	1	647	+			7					Q6NW02	Frame_Shift_Del	DEL	ENST00000268607.5	37	c.19delT	CCDS10960.1																																																																																				0.786	MAP1LC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269106.1			2	4						2	4	---	---	---	---
IRAK1	3654	broad.mit.edu	37	X	153285123	153285123	+	Intron	DEL	C	C	-			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chrX:153285123delC	ENST00000369980.3	-	1	304				IRAK1_ENST00000477274.1_5'Flank|IRAK1_ENST00000393687.2_Intron|IRAK1_ENST00000429936.2_Frame_Shift_Del_p.G47fs|MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000393682.1_Frame_Shift_Del_p.G47fs|IRAK1_ENST00000369974.2_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1						activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					cccgccgccACCCACCGAACT	0.746																																						ENST00000393682.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25						c.(139-141)ggfs		interleukin-1 receptor-associated kinase 1							3.0	3.0	3.0					X																	153285123		1404	2734	4138	SO:0001627	intron_variant	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153285123delC	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.136+4G>-	X.37:g.153285123delC						IRAK1_ENST00000369980.3_Intron|IRAK1_ENST00000369974.2_Intron|IRAK1_ENST00000429936.2_Frame_Shift_Del_p.G47fs|IRAK1_ENST00000393687.2_Intron	p.G47fs			P51617	IRAK1_HUMAN			1	140	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		45			Death.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Frame_Shift_Del	DEL	ENST00000369980.3	37	c.141delG	CCDS14740.1																																																																																				0.746	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			2	4						2	4	---	---	---	---
