#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_ACHILLES_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
EXTL1	2134	broad.mit.edu	37	1	26357639	26357639	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr1:26357639T>G	ENST00000374280.3	+	5	1985	c.1118T>G	c.(1117-1119)aTt>aGt	p.I373S	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	373					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGACCGGATTTTTGGAACA	0.587																																							uc001blf.2		NA																	0				central_nervous_system(1)	1						c.(1117-1119)ATT>AGT		exostoses-like 1							125.0	118.0	120.0					1																	26357639		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26357639T>G	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1118T>G	1.37:g.26357639T>G	ENSP00000363398:p.Ile373Ser						p.I373S	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	5	1985	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	373			Lumenal (Potential).		Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.1118T>G	CCDS271.1	.	.	.	.	.	.	.	.	.	.	T	31	5.080625	0.94050	.	.	ENSG00000158008	ENST00000374280	D	0.96200	-3.94	4.7	3.56	0.40772	.	0.605000	0.16812	N	0.198486	D	0.96806	0.8957	M	0.81497	2.545	0.33841	D	0.631425	D	0.60575	0.988	P	0.60345	0.873	D	0.97615	1.0132	10	0.87932	D	0	-8.3832	9.9347	0.41543	0.1523:0.0:0.0:0.8477	.	373	Q92935	EXTL1_HUMAN	S	373	ENSP00000363398:I373S	ENSP00000363398:I373S	I	+	2	0	EXTL1	26230226	0.988000	0.35896	0.019000	0.16419	0.877000	0.50540	7.683000	0.84093	0.817000	0.34445	0.459000	0.35465	ATT		0.587	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		20	92	0	0	0	0.014323	0	20	92				
NBPF14	25832	broad.mit.edu	37	1	148009403	148009403	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr1:148009403T>C	ENST00000369219.1	-	16	1920	c.1904A>G	c.(1903-1905)tAc>tGc	p.Y635C				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	635	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GGCACTTCTGTAGGGCTGGCA	0.468																																							uc001eqq.2		NA																	0				ovary(1)	1						c.(1903-1905)TAC>TGC		hypothetical protein LOC25832							101.0	193.0	167.0					1																	148009403		1562	4047	5609	SO:0001583	missense	25832					cytoplasm		g.chr1:148009403T>C	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1904A>G	1.37:g.148009403T>C	ENSP00000358221:p.Tyr635Cys					LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Missense_Mutation_p.Y208C|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron	p.Y635C	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN			16	1921	-	all_hematologic(923;0.032)		635			NBPF 7.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1904A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	7.455|7.455	0.643555|0.643555	0.14451|0.14451	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000310701|ENST00000369219;ENST00000434489	.|T	.|0.12147	.|2.71	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.13243|0.13243	0.0321|0.0321	M|M	0.84948|0.84948	2.725|2.725	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.11348|0.11348	-1.0591|-1.0591	2|4	.|0.40728	.|T	.|0.16	.|.	.|.	.|.	.|.	.|.	.|635	.|Q5TI25	.|NBPFE_HUMAN	A|C	641|635;225	.|ENSP00000358221:Y635C	.|ENSP00000358221:Y635C	T|Y	-|-	1|2	0|0	NBPF14|NBPF14	146476027|146476027	0.990000|0.990000	0.36364|0.36364	.|.	.|.	.|.	.|.	0.670000|0.670000	0.25157|0.25157	.|.	.|.	.|.	.|.	ACA|TAC		0.468	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		31	341	0	0	0	0.004289	0	31	341				
GPA33	10223	broad.mit.edu	37	1	167042703	167042703	+	Silent	SNP	G	G	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr1:167042703G>A	ENST00000367868.3	-	2	460	c.117C>T	c.(115-117)gtC>gtT	p.V39V	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	39	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGGGCAGGGTGACACTCTTTC	0.532																																							uc001gea.1		NA																	0					0						c.(115-117)GTC>GTT		transmembrane glycoprotein A33 precursor							143.0	113.0	123.0					1																	167042703		2203	4300	6503	SO:0001819	synonymous_variant	10223					integral to plasma membrane	receptor activity	g.chr1:167042703G>A	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.117C>T	1.37:g.167042703G>A							p.V39V	NM_005814	NP_005805	Q99795	GPA33_HUMAN			2	461	-			39			Ig-like V-type.|Extracellular (Potential).		Q5VZP6	Silent	SNP	ENST00000367868.3	37	c.117C>T	CCDS1258.1																																																																																				0.532	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		12	33	0	0	0	0.013537	0	12	33				
PRRX1	5396	broad.mit.edu	37	1	170705309	170705309	+	Silent	SNP	G	G	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr1:170705309G>A	ENST00000239461.6	+	4	1033	c.720G>A	c.(718-720)caG>caA	p.Q240Q	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	240					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAGGAACCAGGTGCCAACAG	0.433																																							uc001ghf.2		NA																	0				ovary(1)	1						c.(718-720)CAG>CAA		paired mesoderm homeobox 1 isoform pmx-1b							102.0	99.0	100.0					1																	170705309		2203	4300	6503	SO:0001819	synonymous_variant	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170705309G>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.720G>A	1.37:g.170705309G>A						PRRX1_uc001ghe.2_3'UTR	p.Q240Q	NM_022716	NP_073207	P54821	PRRX1_HUMAN			4	767	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		240					B5BUM7|O60807	Silent	SNP	ENST00000239461.6	37	c.720G>A	CCDS1290.1																																																																																				0.433	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		34	72	0	0	0	0.010818	0	34	72				
HMCN1	83872	broad.mit.edu	37	1	186056718	186056718	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr1:186056718G>T	ENST00000271588.4	+	60	9533	c.9304G>T	c.(9304-9306)Gag>Tag	p.E3102*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E3102*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3102	Ig-like C2-type 29.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GATGATAACAGAGTCTACTCA	0.428																																							uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(9304-9306)GAG>TAG		hemicentin 1 precursor							130.0	128.0	129.0					1																	186056718		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186056718G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9304G>T	1.37:g.186056718G>T	ENSP00000271588:p.Glu3102*						p.E3102*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			60	9533	+			3102			Ig-like C2-type 29.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.9304G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	52	19.313058	0.99917	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.29	5.29	0.74685	.	0.144240	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	19.3045	0.94155	0.0:0.0:1.0:0.0	.	.	.	.	X	3102	.	ENSP00000271588:E3102X	E	+	1	0	HMCN1	184323341	1.000000	0.71417	0.849000	0.33467	0.989000	0.77384	9.427000	0.97472	2.612000	0.88384	0.655000	0.94253	GAG		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		17	91	1	0	2.35188e-11	0.006122	3.37103e-11	17	91				
OR2M5	127059	broad.mit.edu	37	1	248308722	248308722	+	Silent	SNP	C	C	G			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr1:248308722C>G	ENST00000366476.1	+	1	273	c.273C>G	c.(271-273)tcC>tcG	p.S91S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCAGCAAGTCCATTTCTATGG	0.463																																							uc010pze.1		NA																	0				ovary(2)|kidney(1)	3						c.(271-273)TCC>TCG		olfactory receptor, family 2, subfamily M,							315.0	308.0	311.0					1																	248308722		2203	4300	6503	SO:0001819	synonymous_variant	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308722C>G		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.273C>G	1.37:g.248308722C>G							p.S91S	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	273	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		91			Extracellular (Potential).			Silent	SNP	ENST00000366476.1	37	c.273C>G	CCDS31105.1																																																																																				0.463	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		145	317	0	0	0	0.01441	0	145	317				
PTCHD3	374308	broad.mit.edu	37	10	27688056	27688056	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr10:27688056T>A	ENST00000438700.3	-	4	1588	c.1471A>T	c.(1471-1473)Aca>Tca	p.T491S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	491	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GTGGTGATTGTAATAGACACT	0.413																																							uc001itu.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1471-1473)ACA>TCA		patched domain containing 3							98.0	86.0	90.0					10																	27688056		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27688056T>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1471A>T	10.37:g.27688056T>A	ENSP00000417658:p.Thr491Ser						p.T491S	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			4	1589	-			491			SSD.|Helical; (Potential).		I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1471A>T	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.766228	0.31228	.	.	ENSG00000182077	ENST00000438700	D	0.92099	-2.97	3.91	2.72	0.32119	Sterol-sensing domain (1);	0.232083	0.41001	N	0.000961	D	0.94000	0.8078	M	0.76328	2.33	0.33624	D	0.605174	D	0.55605	0.972	P	0.61874	0.895	D	0.93896	0.7184	10	0.42905	T	0.14	-14.156	9.0637	0.36449	0.165:0.0:0.0:0.835	.	491	Q3KNS1	PTHD3_HUMAN	S	491	ENSP00000417658:T491S	ENSP00000417658:T491S	T	-	1	0	PTCHD3	27728062	1.000000	0.71417	0.951000	0.38953	0.186000	0.23388	4.648000	0.61425	0.509000	0.28195	0.397000	0.26171	ACA		0.413	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		13	32	0	0	0	0.001855	0	13	32				
ERCC6	2074	broad.mit.edu	37	10	50667157	50667157	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr10:50667157T>C	ENST00000355832.5	-	21	4264	c.4186A>G	c.(4186-4188)Aga>Gga	p.R1396G	ERCC6_ENST00000465653.1_5'Flank|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.R766G	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1396					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGGTGGTTTCTAGCTCTCATT	0.512								Direct reversal of damage;Nucleotide excision repair (NER)																															uc001jhs.3		NA																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(4186-4188)AGA>GGA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							98.0	104.0	102.0					10																	50667157		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50667157T>C	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4186A>G	10.37:g.50667157T>C	ENSP00000348089:p.Arg1396Gly					ERCC6_uc009xod.2_Missense_Mutation_p.R556G|ERCC6_uc010qgr.1_Missense_Mutation_p.R766G|ERCC6_uc001jhr.3_Missense_Mutation_p.R764G	p.R1396G	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			21	4340	-			1396					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.4186A>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135546	0.77662	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.85339	-1.97;-1.65	5.73	1.77	0.24775	.	.	.	.	.	D	0.92077	0.7489	M	0.86178	2.8	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.92275	0.5828	9	0.72032	D	0.01	-25.4871	13.4139	0.60958	0.0:0.0:0.3709:0.6291	.	1396;773	Q03468;Q59FF6	ERCC6_HUMAN;.	G	1396;773;766	ENSP00000348089:R1396G;ENSP00000445134:R766G	ENSP00000348089:R1396G	R	-	1	2	ERCC6	50337163	0.996000	0.38824	0.967000	0.41034	0.994000	0.84299	2.533000	0.45667	0.483000	0.27608	0.533000	0.62120	AGA		0.512	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		18	76	0	0	0	0.00499	0	18	76				
GRID1	2894	broad.mit.edu	37	10	87373269	87373269	+	Silent	SNP	G	G	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr10:87373269G>A	ENST00000327946.7	-	15	2581	c.2496C>T	c.(2494-2496)gcC>gcT	p.A832A	GRID1_ENST00000536331.1_Silent_p.A403A|GRID1_ENST00000552278.2_5'Flank	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	832					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						AGAAGACCCCGGCGAAGCTGT	0.657										Multiple Myeloma(13;0.14)																													uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(2494-2496)GCC>GCT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						58.0	63.0	61.0					10																	87373269		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87373269G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2496C>T	10.37:g.87373269G>A		Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.A403A	p.A832A	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			15	2597	-			832			Helical; (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.2496C>T	CCDS31236.1																																																																																				0.657	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		4	60	0	0	0	0.009096	0	4	60				
EIF4G2	1982	broad.mit.edu	37	11	10822541	10822541	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr11:10822541G>C	ENST00000526148.1	-	15	2017	c.1507C>G	c.(1507-1509)Cca>Gca	p.P503A	EIF4G2_ENST00000396525.2_Missense_Mutation_p.P465A|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P503A|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P503A	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTGCGTGGTGGTTGTGCACTA	0.428																																							uc001mjc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1507-1509)CCA>GCA		eukaryotic translation initiation factor 4							234.0	216.0	222.0					11																	10822541		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10822541G>C	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1507C>G	11.37:g.10822541G>C	ENSP00000433664:p.Pro503Ala					EIF4G2_uc001mjb.2_Missense_Mutation_p.P297A|EIF4G2_uc009ygf.2_Missense_Mutation_p.P297A|EIF4G2_uc001mjd.2_Missense_Mutation_p.P465A|EIF4G2_uc001mjf.1_Missense_Mutation_p.P259A	p.P503A	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	15	1924	-			503						Missense_Mutation	SNP	ENST00000526148.1	37	c.1507C>G	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360321	0.61403	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531180	T;T;T;T;T	0.60171	2.3;2.3;2.3;2.28;0.21	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	L	0.40543	1.245	0.45502	D	0.998460	B;B;P	0.42409	0.02;0.435;0.779	B;B;B	0.38755	0.01;0.078;0.281	T	0.51411	-0.8709	9	0.21014	T	0.42	-5.2115	18.5012	0.90882	0.0:0.0:1.0:0.0	.	465;503;576	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	A	503;503;503;465;576;8	ENSP00000433664:P503A;ENSP00000433371:P503A;ENSP00000340281:P503A;ENSP00000379778:P465A;ENSP00000433561:P8A	ENSP00000340281:P503A	P	-	1	0	EIF4G2	10779117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.707000	0.84623	2.809000	0.96659	0.655000	0.94253	CCA		0.428	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		4	49	0	0	0	0.000602	0	4	49				
OR4S2	219431	broad.mit.edu	37	11	55418704	55418704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr11:55418704G>T	ENST00000312422.2	+	1	325	c.325G>T	c.(325-327)Gag>Tag	p.E109*		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGGTTGCACTGAGATCTTCAT	0.418																																							uc001nhs.1		NA																	0				skin(2)|ovary(1)	3						c.(325-327)GAG>TAG		olfactory receptor, family 4, subfamily S,							215.0	180.0	193.0					11																	55418704		2183	4040	6223	SO:0001587	stop_gained	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418704G>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.325G>T	11.37:g.55418704G>T	ENSP00000310337:p.Glu109*						p.E109*	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	325	+		all_epithelial(135;0.0748)	109			Helical; Name=3; (Potential).		Q6IF72	Nonsense_Mutation	SNP	ENST00000312422.2	37	c.325G>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716630	0.89205	.	.	ENSG00000174982	ENST00000312422	.	.	.	5.36	5.36	0.76844	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6575	0.88182	0.0:0.0:1.0:0.0	.	.	.	.	X	109	.	ENSP00000310337:E109X	E	+	1	0	OR4S2	55175280	0.936000	0.31750	0.998000	0.56505	0.977000	0.68977	4.243000	0.58721	2.512000	0.84698	0.549000	0.68633	GAG		0.418	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		20	111	1	0	2.37509e-13	0.010504	3.52169e-13	20	111				
OR5L1	219437	broad.mit.edu	37	11	55579820	55579820	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr11:55579820G>T	ENST00000333973.2	+	1	967	c.878G>T	c.(877-879)aGa>aTa	p.R293I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TACAGCCTGAGAAATAAAGAT	0.453																																							uc001nhw.1		NA																	0				skin(3)|ovary(2)	5						c.(877-879)AGA>ATA		olfactory receptor, family 5, subfamily L,							44.0	45.0	45.0					11																	55579820		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579820G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.878G>T	11.37:g.55579820G>T	ENSP00000335529:p.Arg293Ile						p.R293I	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	878	+		all_epithelial(135;0.208)	293			Cytoplasmic (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.878G>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	11.69	1.714640	0.30413	.	.	ENSG00000186117	ENST00000333973	T	0.39056	1.1	4.12	3.2	0.36748	.	0.000000	0.64402	D	0.000018	T	0.73892	0.3645	H	0.98682	4.3	0.39424	D	0.966966	D	0.62365	0.991	D	0.63597	0.916	T	0.81936	-0.0705	10	0.87932	D	0	-22.9325	10.9825	0.47504	0.095:0.0:0.905:0.0	.	293	Q8NGL2	OR5L1_HUMAN	I	293	ENSP00000335529:R293I	ENSP00000335529:R293I	R	+	2	0	OR5L1	55336396	0.995000	0.38212	0.201000	0.23476	0.036000	0.12997	2.521000	0.45563	0.736000	0.32559	-0.673000	0.03796	AGA		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		4	38	1	0	0.000602214	0.000602	0.000690539	4	38				
OTUB1	55611	broad.mit.edu	37	11	63764060	63764060	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr11:63764060A>G	ENST00000538426.1	+	4	322	c.278A>G	c.(277-279)tAt>tGt	p.Y93C	OTUB1_ENST00000422031.2_Missense_Mutation_p.Y130C|OTUB1_ENST00000428192.2_Missense_Mutation_p.Y93C|OTUB1_ENST00000543988.1_Missense_Mutation_p.Y63C|OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000535715.1_Missense_Mutation_p.Y93C|OTUB1_ENST00000543004.1_Missense_Mutation_p.Y102C	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	93	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						AACTGTTTCTATCGGGCTTTC	0.592																																							uc001nyf.1		NA																	0				breast(1)	1						c.(277-279)TAT>TGT		otubain 1							98.0	81.0	87.0					11																	63764060		2201	4297	6498	SO:0001583	missense	55611				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	g.chr11:63764060A>G	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"""OTU domain containing"""	23077	protein-coding gene	gene with protein product		608337	"""OTU domain, ubiquitin aldehyde binding 1"""			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.278A>G	11.37:g.63764060A>G	ENSP00000444357:p.Tyr93Cys					OTUB1_uc001nyg.1_Missense_Mutation_p.I67V|OTUB1_uc010rmz.1_Missense_Mutation_p.Y130C|OTUB1_uc010rna.1_Missense_Mutation_p.I33V|OTUB1_uc009ypa.2_Intron|OTUB1_uc009ypb.1_Missense_Mutation_p.Y63C	p.Y93C	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN			4	882	+			93			OTU.		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Missense_Mutation	SNP	ENST00000538426.1	37	c.278A>G	CCDS8055.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.403000	0.25291	.	.	ENSG00000167770	ENST00000535715;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	4.51	2.18	0.27775	Ovarian tumour, otubain (1);	.	.	.	.	T	0.64405	0.2595	M	0.90870	3.155	0.53688	D	0.999971	P;P	0.44139	0.827;0.702	B;B	0.43508	0.422;0.281	T	0.66106	-0.6006	9	0.87932	D	0	.	6.9376	0.24474	0.8099:0.0:0.1901:0.0	.	130;93	B4DPD5;Q96FW1	.;OTUB1_HUMAN	C	93;93;130;93;102;63	ENSP00000440211:Y93C;ENSP00000402551:Y93C;ENSP00000416973:Y130C;ENSP00000444357:Y93C;ENSP00000437453:Y102C;ENSP00000441328:Y63C	ENSP00000416973:Y130C	Y	+	2	0	OTUB1	63520636	1.000000	0.71417	0.456000	0.27044	0.099000	0.18886	6.505000	0.73708	0.352000	0.24053	0.460000	0.39030	TAT		0.592	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		29	32	0	0	0	0.005443	0	29	32				
CDC42BPG	55561	broad.mit.edu	37	11	64596984	64596984	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr11:64596984C>A	ENST00000342711.5	-	30	3925	c.3926G>T	c.(3925-3927)cGt>cTt	p.R1309L	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CTCGTGGCCACGAGACTTGCG	0.652																																							uc001obs.3		NA																	0				lung(3)|central_nervous_system(1)	4						c.(3925-3927)CGT>CTT		CDC42 binding protein kinase gamma (DMPK-like)							26.0	27.0	26.0					11																	64596984		2201	4293	6494	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64596984C>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3926G>T	11.37:g.64596984C>A	ENSP00000345133:p.Arg1309Leu						p.R1309L	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			30	3926	-			1309			CNH.			Missense_Mutation	SNP	ENST00000342711.5	37	c.3926G>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939241	0.73557	.	.	ENSG00000171219	ENST00000342711	T	0.06849	3.25	4.66	4.66	0.58398	Citron-like (2);	0.000000	0.35936	N	0.002885	T	0.32164	0.0820	M	0.82823	2.61	0.53688	D	0.999974	D	0.76494	0.999	D	0.85130	0.997	T	0.13469	-1.0508	10	0.87932	D	0	.	15.4325	0.75112	0.0:1.0:0.0:0.0	.	1309	Q6DT37	MRCKG_HUMAN	L	1309	ENSP00000345133:R1309L	ENSP00000345133:R1309L	R	-	2	0	CDC42BPG	64353560	1.000000	0.71417	0.867000	0.34043	0.349000	0.29174	5.360000	0.66086	2.327000	0.79052	0.563000	0.77884	CGT		0.652	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		14	26	1	0	0.00244969	0.00245	0.00270095	14	26				
SLC36A4	120103	broad.mit.edu	37	11	92881884	92881884	+	Missense_Mutation	SNP	T	T	C	rs373834484		TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr11:92881884T>C	ENST00000326402.4	-	11	1464	c.1334A>G	c.(1333-1335)tAt>tGt	p.Y445C	SLC36A4_ENST00000529184.1_Missense_Mutation_p.Y310C	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	445					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCATATATTATAATGTTCCTT	0.358																																							uc001pdn.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1333-1335)TAT>TGT		solute carrier family 36 (proton/amino acid							60.0	66.0	64.0					11																	92881884		2201	4297	6498	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92881884T>C	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1334A>G	11.37:g.92881884T>C	ENSP00000317382:p.Tyr445Cys					uc001pdl.1_5'Flank|SLC36A4_uc001pdm.2_Missense_Mutation_p.Y310C	p.Y445C	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			11	1431	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	445					Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.1334A>G	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.906924	0.33628	.	.	ENSG00000180773	ENST00000326402;ENST00000529184	T;T	0.02301	4.35;4.35	5.47	4.3	0.51218	.	0.324185	0.29791	N	0.011195	T	0.03959	0.0111	L	0.31476	0.935	0.32809	D	0.501168	P	0.47841	0.901	P	0.56343	0.796	T	0.21211	-1.0252	10	0.54805	T	0.06	-6.7436	5.0651	0.14578	0.3547:0.0:0.1229:0.5224	.	445	Q6YBV0	S36A4_HUMAN	C	445;310	ENSP00000317382:Y445C;ENSP00000436570:Y310C	ENSP00000317382:Y445C	Y	-	2	0	SLC36A4	92521532	1.000000	0.71417	0.993000	0.49108	0.923000	0.55619	3.498000	0.53302	2.085000	0.62840	0.449000	0.29647	TAT		0.358	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			13	25	0	0	0	0.003163	0	13	25				
TROAP	10024	broad.mit.edu	37	12	49724607	49724607	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr12:49724607C>T	ENST00000257909.3	+	13	2055	c.1979C>T	c.(1978-1980)cCc>cTc	p.P660L	TROAP_ENST00000551245.1_Missense_Mutation_p.P660L|TROAP_ENST00000547923.1_Missense_Mutation_p.P339L	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	660	Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AGTCTACCACCCTGCTGCAGT	0.607																																							uc001rtx.3		NA																	0				ovary(1)	1						c.(1978-1980)CCC>CTC		tastin isoform 1							121.0	118.0	119.0					12																	49724607		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49724607C>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1979C>T	12.37:g.49724607C>T	ENSP00000257909:p.Pro660Leu					TROAP_uc009zlh.2_Missense_Mutation_p.P660L|TROAP_uc001rty.2_Missense_Mutation_p.P339L	p.P660L	NM_005480	NP_005471	Q12815	TROAP_HUMAN			13	2146	+			660			Cys-rich.		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1979C>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044484	0.75732	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.14	3.28	0.37604	.	0.911445	0.09311	N	0.819629	T	0.41834	0.1176	L	0.46157	1.445	0.09310	N	1	B;B;B	0.22683	0.073;0.073;0.073	B;B;B	0.25884	0.064;0.064;0.064	T	0.40590	-0.9555	9	0.66056	D	0.02	-0.2785	6.7305	0.23381	0.0:0.7265:0.1792:0.0943	.	660;339;660	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	L	660;660;339	.	ENSP00000257909:P660L	P	+	2	0	TROAP	48010874	0.000000	0.05858	0.002000	0.10522	0.648000	0.38561	0.371000	0.20450	0.717000	0.32145	0.561000	0.74099	CCC		0.607	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		21	127	0	0	0	0.012319	0	21	127				
FBXO21	23014	broad.mit.edu	37	12	117612494	117612494	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr12:117612494C>T	ENST00000330622.5	-	5	700	c.701G>A	c.(700-702)gGc>gAc	p.G234D	FBXO21_ENST00000427718.2_Missense_Mutation_p.G234D|FBXO21_ENST00000549689.1_5'UTR			O94952	FBX21_HUMAN	F-box protein 21	234					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ACTGTTTATGCCCCGAAGGGT	0.468																																					GBM(168;452 2038 13535 17701 43680)	GBM(168;452 2038 13535 17701 43680)	uc001twk.2		NA																	0				kidney(1)	1						c.(700-702)GGC>GAC		F-box only protein 21 isoform 1							106.0	88.0	94.0					12																	117612494		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117612494C>T	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.701G>A	12.37:g.117612494C>T	ENSP00000328187:p.Gly234Asp					FBXO21_uc001twj.2_Missense_Mutation_p.G234D|FBXO21_uc009zwq.2_Missense_Mutation_p.G234D	p.G234D	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	5	740	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		234					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.701G>A	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.411223	0.25465	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622	T;T	0.42131	0.98;0.98	5.13	5.13	0.70059	F-box domain, Skp2-like (1);	0.302716	0.33875	N	0.004461	T	0.30572	0.0769	N	0.25647	0.755	0.34448	D	0.700358	P;B;B	0.35226	0.491;0.411;0.021	B;B;B	0.37731	0.187;0.257;0.009	T	0.33954	-0.9848	10	0.12103	T	0.63	-22.8283	13.3235	0.60447	0.0:0.7065:0.2935:0.0	.	150;234;234	Q8IUQ5;O94952;O94952-1	.;FBX21_HUMAN;.	D	234;150;150;234	ENSP00000414468:G234D;ENSP00000328187:G234D	ENSP00000257563:G150D	G	-	2	0	FBXO21	116096877	0.694000	0.27738	1.000000	0.80357	0.692000	0.40212	3.702000	0.54800	2.413000	0.81919	0.561000	0.74099	GGC		0.468	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		3	41	0	0	0	0.004672	0	3	41				
B3GNT4	79369	broad.mit.edu	37	12	122691766	122691766	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr12:122691766C>T	ENST00000324189.4	+	3	1324	c.968C>T	c.(967-969)gCt>gTt	p.A323V	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Missense_Mutation_p.A298V|B3GNT4_ENST00000535274.1_Missense_Mutation_p.A298V	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	323					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		ATGCACCATGCTGGCTTCAAG	0.597																																							uc001ubx.2		NA																	0				ovary(1)	1						c.(967-969)GCT>GTT		UDP-GlcNAc:betaGal							79.0	77.0	78.0					12																	122691766		2203	4300	6503	SO:0001583	missense	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122691766C>T	AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.968C>T	12.37:g.122691766C>T	ENSP00000319636:p.Ala323Val					B3GNT4_uc001uby.2_Missense_Mutation_p.A298V	p.A323V	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	3	1186	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		323			Lumenal (Potential).		Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	37	c.968C>T	CCDS9227.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.758186	0.49468	.	.	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.36340	1.38;1.26;1.26	5.46	3.59	0.41128	.	0.110421	0.37669	N	0.001997	T	0.28632	0.0709	N	0.24115	0.695	0.09310	N	1	P	0.49185	0.92	P	0.46419	0.516	T	0.07635	-1.0762	10	0.29301	T	0.29	.	11.6824	0.51466	0.1391:0.7271:0.1338:0.0	.	323	Q9C0J1	B3GN4_HUMAN	V	323;298;298	ENSP00000319636:A323V;ENSP00000438840:A298V;ENSP00000444534:A298V	ENSP00000319636:A323V	A	+	2	0	B3GNT4	121257719	0.000000	0.05858	0.211000	0.23655	0.804000	0.45430	1.289000	0.33307	0.639000	0.30564	0.491000	0.48974	GCT		0.597	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		3	50	0	0	0	0.004672	0	3	50				
FLRT2	23768	broad.mit.edu	37	14	86089656	86089656	+	Silent	SNP	C	C	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr14:86089656C>T	ENST00000330753.4	+	2	2565	c.1798C>T	c.(1798-1800)Ctg>Ttg	p.L600L	FLRT2_ENST00000554746.1_Silent_p.L600L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	600					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAACTCCATCCTGGAGATGAC	0.498																																							uc001xvr.2		NA																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1798-1800)CTG>TTG		fibronectin leucine rich transmembrane protein 2							115.0	122.0	120.0					14																	86089656		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089656C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1798C>T	14.37:g.86089656C>T						FLRT2_uc010atd.2_Silent_p.L600L	p.L600L	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2565	+			600			Cytoplasmic (Potential).		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.1798C>T	CCDS9877.1																																																																																				0.498	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			4	149	0	0	0	0.009096	0	4	149				
GP2	2813	broad.mit.edu	37	16	20335360	20335360	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr16:20335360C>T	ENST00000381362.4	-	3	389	c.313G>A	c.(313-315)Gag>Aag	p.E105K	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.E105K|GP2_ENST00000381360.5_Intron	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	105					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACACAGGTCTCCGACATCCTT	0.592																																							uc002dgv.2		NA																	0				ovary(3)|skin(1)	4						c.(313-315)GAG>AAG		zymogen granule membrane glycoprotein 2 isoform							102.0	80.0	87.0					16																	20335360		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335360C>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.313G>A	16.37:g.20335360C>T	ENSP00000370767:p.Glu105Lys					GP2_uc002dgw.2_Missense_Mutation_p.E105K|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	p.E105K	NM_001007240	NP_001007241	P55259	GP2_HUMAN			3	396	-			105					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.313G>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807497	0.70797	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99167	-5.51;-5.51	5.03	4.06	0.47325	.	.	.	.	.	D	0.98979	0.9652	M	0.84326	2.69	0.28073	N	0.932504	P;D	0.56287	0.525;0.975	B;P	0.57468	0.25;0.821	D	0.96583	0.9432	9	0.66056	D	0.02	-8.0015	11.5206	0.50549	0.0:0.9124:0.0:0.0876	.	105;105	P55259-3;P55259	.;GP2_HUMAN	K	105	ENSP00000304044:E105K;ENSP00000370767:E105K	ENSP00000304044:E105K	E	-	1	0	GP2	20242861	0.000000	0.05858	0.008000	0.14137	0.722000	0.41435	0.705000	0.25675	1.308000	0.44962	0.655000	0.94253	GAG		0.592	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		39	69	0	0	0	0.00874	0	39	69				
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	A	rs587781991		TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr17:7578526C>A	ENST00000269305.4	-	5	593	c.404G>T	c.(403-405)tGc>tTc	p.C135F	TP53_ENST00000359597.4_Missense_Mutation_p.C135F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C135F|TP53_ENST00000420246.2_Missense_Mutation_p.C135F|TP53_ENST00000445888.2_Missense_Mutation_p.C135F|TP53_ENST00000413465.2_Missense_Mutation_p.C135F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCAGTTGGCAAAACATCTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	p.C135Y(51)|p.C135F(34)|p.C135W(19)|p.C135S(10)|p.C135fs*35(9)|p.0?(7)|p.C135*(7)|p.C135G(6)|p.C135R(6)|p.C135C(5)|p.C135fs*14(2)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.C42Y(1)|p.C3Y(1)|p.M133fs*13(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(403-405)TGC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578526		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578526C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.404G>T	17.37:g.7578526C>A	ENSP00000269305:p.Cys135Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C135F|TP53_uc002gih.2_Missense_Mutation_p.C135F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C3F|TP53_uc010cng.1_Missense_Mutation_p.C3F|TP53_uc002gii.1_Missense_Mutation_p.C3F|TP53_uc010cnh.1_Missense_Mutation_p.C135F|TP53_uc010cni.1_Missense_Mutation_p.C135F|TP53_uc002gij.2_Missense_Mutation_p.C135F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C42F|TP53_uc002gio.2_Missense_Mutation_p.C3F|TP53_uc010vug.1_Missense_Mutation_p.C96F	p.C135F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	598	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	135		C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.404G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574878	0.86542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.997;1.0;0.904;1.0;1.0;1.0;1.0	D	0.97349	0.9962	10	0.72032	D	0.01	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135F;ENSP00000352610:C135F;ENSP00000269305:C135F;ENSP00000398846:C135F;ENSP00000391127:C135F;ENSP00000391478:C135F;ENSP00000425104:C3F;ENSP00000423862:C42F;ENSP00000424104:C135F	ENSP00000269305:C135F	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	28	1	0	7.48243e-07	0.006214	9.06322e-07	10	28				
NCOR1	9611	broad.mit.edu	37	17	16024509	16024509	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr17:16024509C>A	ENST00000268712.3	-	16	1966	c.1709G>T	c.(1708-1710)cGg>cTg	p.R570L	NCOR1_ENST00000395848.1_Missense_Mutation_p.R461L|NCOR1_ENST00000395851.1_Missense_Mutation_p.R570L|NCOR1_ENST00000583226.1_5'UTR	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	570					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTTCGCCCCCGGGGTGTGGC	0.537																																							uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(1708-1710)CGG>CTG		nuclear receptor co-repressor 1							87.0	91.0	90.0					17																	16024509		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16024509C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1709G>T	17.37:g.16024509C>A	ENSP00000268712:p.Arg570Leu					NCOR1_uc002gpn.2_Missense_Mutation_p.R570L|NCOR1_uc002gpp.1_Missense_Mutation_p.R461L|NCOR1_uc002gpr.2_Missense_Mutation_p.R461L	p.R570L	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	16	1949	-			570					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.1709G>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963602	0.92791	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.35605	1.3;1.3;1.3	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.998	D;P;D	0.87578	0.998;0.859;0.94	T	0.54248	-0.8322	10	0.54805	T	0.06	-11.1089	18.8353	0.92159	0.0:1.0:0.0:0.0	.	461;570;570	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	L	570;570;461;461	ENSP00000268712:R570L;ENSP00000379192:R570L;ENSP00000379189:R461L	ENSP00000268712:R570L	R	-	2	0	NCOR1	15965234	1.000000	0.71417	0.912000	0.35992	0.990000	0.78478	4.790000	0.62453	2.688000	0.91661	0.655000	0.94253	CGG		0.537	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		32	84	1	0	9.65963e-10	0.003271	1.31862e-09	32	84				
PLD6	201164	broad.mit.edu	37	17	17106252	17106252	+	Silent	SNP	C	C	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr17:17106252C>A	ENST00000321560.3	-	2	616	c.588G>T	c.(586-588)cgG>cgT	p.R196R	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	196					DNA methylation involved in gamete generation (GO:0043046)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|meiotic nuclear division (GO:0007126)|mitochondrial fusion (GO:0008053)|P granule organization (GO:0030719)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|piRNA metabolic process (GO:0034587)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	cardiolipin hydrolase activity (GO:0035755)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(1)	2						CCAGAAAAAGCCGCACGTACT	0.507																																							uc002gqz.2		NA																	0					0						c.(586-588)CGG>CGT		phospholipase D6							135.0	132.0	133.0					17																	17106252		2203	4300	6503	SO:0001819	synonymous_variant	201164				DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity	g.chr17:17106252C>A	AK090899	CCDS11182.1	17p11.2	2008-08-14			ENSG00000179598	ENSG00000179598			30447	protein-coding gene	gene with protein product		614960				12477932	Standard	NM_178836		Approved		uc002gqz.3	Q8N2A8	OTTHUMG00000059278	ENST00000321560.3:c.588G>T	17.37:g.17106252C>A						PLD6_uc010cpn.2_RNA	p.R196R	NM_178836	NP_849158	Q8N2A8	PLD6_HUMAN			2	620	-			196			Cytoplasmic (Potential).		Q8N5Y1	Silent	SNP	ENST00000321560.3	37	c.588G>T	CCDS11182.1	.	.	.	.	.	.	.	.	.	.	C	8.950	0.968061	0.18659	.	.	ENSG00000179598	ENST00000427497	.	.	.	5.6	3.21	0.36854	.	.	.	.	.	T	0.63861	0.2547	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66064	-0.6016	5	0.87932	D	0	-16.8066	7.7155	0.28702	0.1242:0.6797:0.1211:0.075	.	.	.	.	S	170	.	ENSP00000394249:A170S	A	-	1	0	PLD6	17046977	0.696000	0.27757	0.719000	0.30619	0.837000	0.47467	1.245000	0.32790	1.334000	0.45468	0.655000	0.94253	GCT		0.507	PLD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131600.2	NM_178836		21	43	1	0	3.62473e-10	0.012319	5.02785e-10	21	43				
NUP85	79902	broad.mit.edu	37	17	73206052	73206052	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr17:73206052G>T	ENST00000245544.4	+	3	333	c.262G>T	c.(262-264)Gag>Tag	p.E88*	NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000579298.1_Nonsense_Mutation_p.E88*|NUP85_ENST00000541827.1_Nonsense_Mutation_p.E42*|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000447371.2_5'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	88					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AATTGACGAAGAGTTGACTGG	0.403																																							uc002jng.1		NA																	0				ovary(1)	1						c.(262-264)GAG>TAG		nucleoporin 85							95.0	98.0	97.0					17																	73206052		2203	4300	6503	SO:0001587	stop_gained	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73206052G>T	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.262G>T	17.37:g.73206052G>T	ENSP00000245544:p.Glu88*					NUP85_uc010dgd.1_Nonsense_Mutation_p.E88*|NUP85_uc010wrv.1_Nonsense_Mutation_p.E42*	p.E88*	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		3	522	+	all_lung(278;0.14)|Lung NSC(278;0.168)		88					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Nonsense_Mutation	SNP	ENST00000245544.4	37	c.262G>T	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670353	0.96754	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421	.	.	.	5.94	4.96	0.65561	.	0.192777	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-10.5509	13.5942	0.61979	0.0738:0.0:0.9262:0.0	.	.	.	.	X	88;42;42	.	ENSP00000245544:E88X	E	+	1	0	NUP85	70717647	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.689000	0.68234	2.834000	0.97654	0.650000	0.86243	GAG		0.403	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		14	49	1	0	1.67942e-08	0.006122	2.18833e-08	14	49				
CCDC57	284001	broad.mit.edu	37	17	80146200	80146200	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr17:80146200C>T	ENST00000389641.4	-	7	983	c.947G>A	c.(946-948)aGg>aAg	p.R316K	CCDC57_ENST00000392343.3_Missense_Mutation_p.R316K|CCDC57_ENST00000392347.1_Missense_Mutation_p.R316K			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	316										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTCCAGAACCCTGGTCTGCAG	0.652																																							uc002kdz.1		NA																	0				ovary(2)	2						c.(946-948)AGG>AAG		coiled-coil domain containing 57							32.0	36.0	34.0					17																	80146200		2175	4272	6447	SO:0001583	missense	284001							g.chr17:80146200C>T	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.947G>A	17.37:g.80146200C>T	ENSP00000374292:p.Arg316Lys					CCDC57_uc002kdx.1_Missense_Mutation_p.R316K	p.R316K	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		8	1302	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		316			Potential.		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.947G>A		.	.	.	.	.	.	.	.	.	.	C	0.850	-0.739037	0.03088	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.21191	3.17;3.17;2.02	5.54	2.17	0.27698	.	0.512387	0.20575	N	0.089656	T	0.08670	0.0215	N	0.16066	0.365	0.24497	N	0.994277	B;B	0.11235	0.004;0.004	B;B	0.11329	0.004;0.006	T	0.37526	-0.9702	10	0.06494	T	0.89	-19.9104	5.4075	0.16330	0.0:0.6083:0.0:0.3917	.	316;316	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	K	316	ENSP00000374292:R316K;ENSP00000376158:R316K;ENSP00000376154:R316K	ENSP00000374292:R316K	R	-	2	0	CCDC57	77739489	0.002000	0.14202	0.254000	0.24359	0.002000	0.02628	0.511000	0.22739	0.714000	0.32081	-0.145000	0.13849	AGG		0.652	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		4	12	0	0	0	0.009096	0	4	12				
KLHL14	57565	broad.mit.edu	37	18	30254700	30254700	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr18:30254700C>T	ENST00000359358.4	-	9	2245	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	603						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACATCTCCTTCGAGTTCTGTC	0.473																																							uc002kxm.1		NA																	0				ovary(1)	1						c.(1807-1809)GAA>AAA		kelch-like 14							199.0	192.0	194.0					18																	30254700		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30254700C>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1807G>A	18.37:g.30254700C>T	ENSP00000352314:p.Glu603Lys					KLHL14_uc010dmd.1_Missense_Mutation_p.E152K	p.E603K	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			9	2195	-			603			Kelch 6.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.1807G>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	36	5.850441	0.97023	.	.	ENSG00000197705	ENST00000359358	T	0.73469	-0.75	5.65	5.65	0.86999	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.76234	0.3959	N	0.20445	0.575	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	T	0.68232	-0.5463	10	0.08599	T	0.76	.	20.0919	0.97823	0.0:1.0:0.0:0.0	.	603	Q9P2G3	KLH14_HUMAN	K	603	ENSP00000352314:E603K	ENSP00000352314:E603K	E	-	1	0	KLHL14	28508698	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	7.434000	0.80377	2.810000	0.96702	0.650000	0.86243	GAA		0.473	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			5	164	0	0	0	0.000602	0	5	164				
PRR12	57479	broad.mit.edu	37	19	50099261	50099261	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr19:50099261G>T	ENST00000418929.2	+	4	1681	c.1669G>T	c.(1669-1671)Ggt>Tgt	p.G557C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGAGGCGGCGGTGAGGCCAG	0.692																																							uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1669-1671)GGT>TGT		proline rich 12																																				SO:0001583	missense	57479						DNA binding	g.chr19:50099261G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1669G>T	19.37:g.50099261G>T	ENSP00000394510:p.Gly557Cys						p.G557C	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1669	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	330			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1669G>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	0.770	-0.765988	0.02974	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	T	0.49423	0.1556	.	.	.	0.09310	N	1	D	0.59357	0.985	P	0.53912	0.737	T	0.36237	-0.9756	7	0.62326	D	0.03	.	9.7544	0.40494	0.0:0.2115:0.7885:0.0	.	557	Q9ULL5-3	.	C	557	.	ENSP00000394510:G557C	G	+	1	0	PRR12	54791073	0.960000	0.32886	0.187000	0.23214	0.116000	0.19942	3.972000	0.56838	2.196000	0.70406	0.455000	0.32223	GGT		0.692	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		11	42	1	0	1.08611e-07	0.010729	1.3537e-07	11	42				
BIRC8	112401	broad.mit.edu	37	19	53793270	53793270	+	Missense_Mutation	SNP	G	G	C	rs113838023	byFrequency	TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr19:53793270G>C	ENST00000426466.1	-	1	1605	c.358C>G	c.(358-360)Cga>Gga	p.R120G		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	120					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.R120*(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AATCCCATTCGTATAGCTTCT	0.383													g|||	7	0.00139776	0.0045	0.0014	5008	,	,		20201	0.0		0.0	False		,,,				2504	0.0						uc002qbk.2		NA																	1	Substitution - Nonsense(1)	p.R120*(1)	lung(1)	lung(1)	1						c.(358-360)CGA>GGA		baculoviral IAP repeat-containing 8		G	GLY/ARG	15,4391	22.3+/-47.3	0,15,2188	195.0	189.0	191.0		358	-1.0	0.0	19	dbSNP_132	191	0,8600		0,0,4300	no	missense	BIRC8	NM_033341.4	125	0,15,6488	CC,CG,GG		0.0,0.3404,0.1153	possibly-damaging	120/237	53793270	15,12991	2203	4300	6503	SO:0001583	missense	112401				apoptosis		zinc ion binding	g.chr19:53793270G>C	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.358C>G	19.37:g.53793270G>C	ENSP00000412957:p.Arg120Gly						p.R120G	NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1606	-			120					Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	c.358C>G	CCDS12863.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	5.154	0.214029	0.09810	0.003404	0.0	ENSG00000163098	ENST00000426466	T	0.36157	1.27	0.502	-1.0	0.10196	.	.	.	.	.	T	0.25457	0.0619	M	0.68317	2.08	0.09310	N	1	P	0.49961	0.93	B	0.43274	0.414	T	0.14952	-1.0454	9	0.38643	T	0.18	-16.4135	5.9805	0.19405	0.0:0.3263:0.6737:0.0	.	120	Q96P09	BIRC8_HUMAN	G	120	ENSP00000412957:R120G	ENSP00000412957:R120G	R	-	1	2	BIRC8	58485082	0.601000	0.26907	0.001000	0.08648	0.001000	0.01503	1.026000	0.30103	-0.427000	0.07350	-0.811000	0.03165	CGA		0.383	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		16	81	0	0	0	0.003163	0	16	81				
KIDINS220	57498	broad.mit.edu	37	2	8919861	8919861	+	Silent	SNP	G	G	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr2:8919861G>A	ENST00000256707.3	-	18	2494	c.2313C>T	c.(2311-2313)gtC>gtT	p.V771V	KIDINS220_ENST00000319688.5_Silent_p.V772V|KIDINS220_ENST00000418530.1_Silent_p.V729V|KIDINS220_ENST00000473731.1_Silent_p.V771V|KIDINS220_ENST00000427284.1_Silent_p.V771V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	771	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CATCGATGATGACCACCAGCC	0.463																																							uc002qzc.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2311-2313)GTC>GTT		kinase D-interacting substrate of 220 kDa							103.0	102.0	102.0					2																	8919861		1988	4158	6146	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8919861G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2313C>T	2.37:g.8919861G>A						KIDINS220_uc010yiv.1_Silent_p.V537V|KIDINS220_uc002qzd.2_Silent_p.V729V|KIDINS220_uc010yiw.1_Silent_p.V772V	p.V771V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			18	2495	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		771			KAP NTPase.|Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.2313C>T	CCDS42650.1																																																																																				0.463	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		11	33	0	0	0	0.010729	0	11	33				
ZDBF2	57683	broad.mit.edu	37	2	207170309	207170309	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr2:207170309T>C	ENST00000374423.3	+	5	1443	c.1057T>C	c.(1057-1059)Ttt>Ctt	p.F353L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	353							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAGACAGCCTTTTGGGAACA	0.388																																							uc002vbp.2		NA																	0				ovary(3)	3						c.(1057-1059)TTT>CTT		zinc finger, DBF-type containing 2							60.0	59.0	59.0					2																	207170309		1839	4088	5927	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170309T>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1057T>C	2.37:g.207170309T>C	ENSP00000363545:p.Phe353Leu						p.F353L	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	1307	+			353					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.1057T>C	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	T	0.040	-1.287255	0.01387	.	.	ENSG00000204186	ENST00000374423	T	0.39406	1.08	4.8	-5.26	0.02772	.	1.009930	0.07977	N	0.984941	T	0.18215	0.0437	L	0.31664	0.95	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.37641	-0.9697	10	0.02654	T	1	.	0.2538	0.00209	0.2397:0.2449:0.2443:0.2711	.	353	Q9HCK1	ZDBF2_HUMAN	L	353	ENSP00000363545:F353L	ENSP00000363545:F353L	F	+	1	0	ZDBF2	206878554	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.752000	0.04797	-0.688000	0.05155	0.528000	0.53228	TTT		0.388	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		11	39	0	0	0	0.013537	0	11	39				
TTI1	9675	broad.mit.edu	37	20	36641109	36641109	+	Silent	SNP	G	G	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr20:36641109G>A	ENST00000373448.2	-	3	1348	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	TTI1_ENST00000449821.1_Silent_p.L370L|TTI1_ENST00000373447.3_Silent_p.L370L|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	370					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGATGTCAGCGAGGGCTTTGT	0.458																																							uc002xhl.2		NA																	0					0						c.(1108-1110)CTC>CTT		hypothetical protein LOC9675							160.0	162.0	161.0					20																	36641109		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36641109G>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1110C>T	20.37:g.36641109G>A						KIAA0406_uc002xhm.2_Silent_p.L370L	p.L370L	NM_014657	NP_055472	O43156	TTI1_HUMAN			3	1319	-		Myeloproliferative disorder(115;0.00874)	370					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.1110C>T	CCDS13300.1																																																																																				0.458	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		15	136	0	0	0	0.010504	0	15	136				
PTGIS	5740	broad.mit.edu	37	20	48140776	48140776	+	Splice_Site	SNP	C	C	A	rs201288052		TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr20:48140776C>A	ENST00000244043.4	-	6	703	c.674G>T	c.(673-675)gGg>gTg	p.G225V	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	225					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	GTCCTTGTCCCCTGCAGGGAC	0.602																																							uc002xut.2		NA																	0				skin(2)|ovary(1)	3						c.(673-675)GGG>GTG		prostaglandin I2 synthase	Phenylbutazone(DB00812)						61.0	60.0	60.0					20																	48140776		2203	4300	6503	SO:0001630	splice_region_variant	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48140776C>A		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.674-1G>T	20.37:g.48140776C>A						PTGIS_uc010zyi.1_Missense_Mutation_p.G86V	p.G225V	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		6	728	-			225					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.674G>T	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	6.084	0.383838	0.11524	.	.	ENSG00000124212	ENST00000244043	T	0.66815	-0.23	4.96	4.0	0.46444	.	0.583426	0.17916	N	0.157674	T	0.45518	0.1346	N	0.12182	0.205	0.58432	D	0.999995	P	0.35542	0.508	B	0.32724	0.151	T	0.51309	-0.8722	10	0.54805	T	0.06	.	9.8891	0.41279	0.0:0.8986:0.0:0.1014	.	225	Q16647	PTGIS_HUMAN	V	225	ENSP00000244043:G225V	ENSP00000244043:G225V	G	-	2	0	PTGIS	47574183	0.935000	0.31712	1.000000	0.80357	0.218000	0.24690	0.389000	0.20751	2.468000	0.83385	0.563000	0.77884	GGG		0.602	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2		Missense_Mutation	4	72	1	0	0.00909568	0.009096	0.00990163	4	72				
CADPS	8618	broad.mit.edu	37	3	62751619	62751619	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr3:62751619T>C	ENST00000383710.4	-	2	831	c.482A>G	c.(481-483)cAg>cGg	p.Q161R	CADPS_ENST00000490353.2_Missense_Mutation_p.Q161R|CADPS_ENST00000357948.3_Missense_Mutation_p.Q161R|CADPS_ENST00000283269.9_Missense_Mutation_p.Q161R	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	161					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAGGAAAGCCTGAAACCGGTC	0.463																																							uc003dll.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(481-483)CAG>CGG		Ca2+-dependent secretion activator isoform 1							141.0	125.0	130.0					3																	62751619		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62751619T>C	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.482A>G	3.37:g.62751619T>C	ENSP00000373215:p.Gln161Arg					CADPS_uc003dlm.2_Missense_Mutation_p.Q161R|CADPS_uc003dln.2_Missense_Mutation_p.Q161R	p.Q161R	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	2	842	-		Lung SC(41;0.0452)	161					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.482A>G	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188746	0.57909	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.84831	0.5559	L	0.45422	1.42	0.58432	D	0.999996	B;P;P	0.48294	0.007;0.908;0.799	B;D;B	0.64144	0.012;0.922;0.115	D	0.84650	0.0700	10	0.44086	T	0.13	.	14.4115	0.67117	0.0:0.0:0.0:1.0	.	161;161;161	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	R	161	ENSP00000373215:Q161R;ENSP00000350632:Q161R;ENSP00000283269:Q161R;ENSP00000418736:Q161R	ENSP00000283269:Q161R	Q	-	2	0	CADPS	62726659	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.674000	0.83992	2.103000	0.63969	0.533000	0.62120	CAG		0.463	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		3	68	0	0	0	0.004672	0	3	68				
ZNF148	7707	broad.mit.edu	37	3	124951371	124951371	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr3:124951371G>C	ENST00000360647.4	-	9	2684	c.2199C>G	c.(2197-2199)ttC>ttG	p.F733L	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.F733L|ZNF148_ENST00000492394.1_Missense_Mutation_p.F733L|ZNF148_ENST00000544464.1_Missense_Mutation_p.F70L|ZNF148_ENST00000468369.1_Missense_Mutation_p.F83L|ZNF148_ENST00000484491.1_Missense_Mutation_p.F733L|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	733					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AGGGAGCACGGAAGGGCTGTT	0.493																																							uc003ehx.3		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(2197-2199)TTC>TTG		zinc finger protein 148							106.0	101.0	102.0					3																	124951371		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124951371G>C	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.2199C>G	3.37:g.124951371G>C	ENSP00000353863:p.Phe733Leu					SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.F733L|ZNF148_uc010hsa.2_Missense_Mutation_p.F733L|ZNF148_uc003eia.3_Missense_Mutation_p.F733L|ZNF148_uc003ehy.2_Missense_Mutation_p.F70L	p.F733L	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN			9	2685	-			733					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.2199C>G	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757462	0.31137	.	.	ENSG00000163848	ENST00000360647;ENST00000468369;ENST00000484491;ENST00000544464;ENST00000492394;ENST00000485866	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.35	4.47	0.54385	.	0.051879	0.85682	D	0.000000	T	0.28234	0.0697	N	0.24115	0.695	0.44117	D	0.996896	P;P	0.40180	0.705;0.646	B;B	0.35114	0.196;0.111	T	0.14839	-1.0458	10	0.72032	D	0.01	-8.3437	11.9226	0.52801	0.1438:0.0:0.8562:0.0	.	83;733	G5E9X2;Q9UQR1	.;ZN148_HUMAN	L	733;83;733;70;733;733	ENSP00000353863:F733L;ENSP00000420102:F83L;ENSP00000420335:F733L;ENSP00000437916:F70L;ENSP00000419322:F733L;ENSP00000420448:F733L	ENSP00000353863:F733L	F	-	3	2	ZNF148	126434061	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.316000	0.59178	1.481000	0.48307	0.655000	0.94253	TTC		0.493	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		22	61	0	0	0	0.010504	0	22	61				
TNK2	10188	broad.mit.edu	37	3	195593860	195593860	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr3:195593860G>A	ENST00000333602.6	-	14	3627	c.3010C>T	c.(3010-3012)Cgg>Tgg	p.R1004W	TNK2_ENST00000428187.1_Missense_Mutation_p.R1006W|TNK2_ENST00000392400.1_Missense_Mutation_p.R1004W|TNK2_ENST00000381916.2_Missense_Mutation_p.R1052W	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1004				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCTCTGGGCCGCAGACCCAGC	0.682																																							uc003fvu.1		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(3010-3012)CGG>TGG		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						29.0	33.0	32.0					3																	195593860		2200	4300	6500	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195593860G>A	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.3010C>T	3.37:g.195593860G>A	ENSP00000329425:p.Arg1004Trp					TNK2_uc003fvq.1_Missense_Mutation_p.R413W|TNK2_uc003fvr.1_Missense_Mutation_p.R531W|TNK2_uc003fvs.1_Missense_Mutation_p.R1006W|TNK2_uc003fvt.1_Missense_Mutation_p.R1052W	p.R1004W	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	14	3553	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1004	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.3010C>T	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581514	0.46006	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.76448	-0.93;-1.02;2.83;-1.0;-0.93	5.85	4.07	0.47477	.	0.261011	0.34959	N	0.003553	T	0.80105	0.4562	L	0.41824	1.3	0.80722	D	1	B;B;B;D	0.89917	0.033;0.055;0.033;1.0	B;B;B;D	0.85130	0.003;0.011;0.005;0.997	T	0.78892	-0.2025	10	0.87932	D	0	.	5.1091	0.14800	0.1591:0.0:0.5862:0.2547	.	1004;1052;1006;531	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	W	1004;1052;573;1006;1004	ENSP00000329425:R1004W;ENSP00000371341:R1052W;ENSP00000398614:R573W;ENSP00000392546:R1006W;ENSP00000376201:R1004W	ENSP00000329425:R1004W	R	-	1	2	TNK2	197078257	1.000000	0.71417	0.993000	0.49108	0.481000	0.33189	2.158000	0.42329	0.824000	0.34613	0.655000	0.94253	CGG		0.682	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		3	30	0	0	0	0.004672	0	3	30				
SCFD2	152579	broad.mit.edu	37	4	53786890	53786890	+	Splice_Site	SNP	G	G	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr4:53786890G>A	ENST00000401642.3	-	6	1841		c.e6+1		SCFD2_ENST00000388940.4_Splice_Site	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2						protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTATATACTTGCCTGGTGGGT	0.393																																							uc003gzu.2		NA																	0				ovary(2)|pancreas(1)	3						c.e6+1		sec1 family domain containing 2							82.0	86.0	85.0					4																	53786890		2203	4300	6503	SO:0001630	splice_region_variant	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:53786890G>A	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1707+1C>T	4.37:g.53786890G>A						SCFD2_uc010igm.2_Splice_Site_p.Q569_splice	p.Q569_splice	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		6	1841	-								Q8N5F3|Q8N8H0|Q96ED3	Splice_Site	SNP	ENST00000401642.3	37	c.1707_splice	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218002	0.39201	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	.	.	.	4.96	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.538	0.22365	0.2948:0.0:0.7052:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCFD2	53481647	1.000000	0.71417	0.997000	0.53966	0.629000	0.37895	2.057000	0.41365	0.362000	0.24319	0.561000	0.74099	.		0.393	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540	Intron	6	46	0	0	0	0.001168	0	6	46				
TECRL	253017	broad.mit.edu	37	4	65274985	65274985	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr4:65274985C>A	ENST00000381210.3	-	1	195	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	TECRL_ENST00000507440.1_Missense_Mutation_p.D29Y	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	29					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TTTCTCATATCATCCTTCAGT	0.428																																							uc003hcv.2		NA																	0					0						c.(85-87)GAT>TAT		steroid 5 alpha-reductase 2-like 2							131.0	132.0	132.0					4																	65274985		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65274985C>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.85G>T	4.37:g.65274985C>A	ENSP00000370607:p.Asp29Tyr					TECRL_uc003hcw.2_Missense_Mutation_p.D29Y	p.D29Y	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			1	194	-			29						Missense_Mutation	SNP	ENST00000381210.3	37	c.85G>T	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624653	0.28889	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.41065	1.01;1.01;1.01	4.99	2.76	0.32466	.	0.356563	0.25780	N	0.028350	T	0.41166	0.1147	L	0.57536	1.79	0.09310	N	1	P;P	0.37015	0.571;0.578	B;B	0.43386	0.418;0.239	T	0.37709	-0.9694	10	0.87932	D	0	-0.8478	5.1192	0.14851	0.0:0.6556:0.1905:0.1539	.	29;29	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	Y	29	ENSP00000426043:D29Y;ENSP00000370607:D29Y;ENSP00000422497:D29Y	ENSP00000370607:D29Y	D	-	1	0	TECRL	64957580	1.000000	0.71417	0.037000	0.18230	0.288000	0.27193	2.345000	0.44018	0.349000	0.23975	0.655000	0.94253	GAT		0.428	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		13	54	1	0	3.27435e-08	0.00245	4.2029e-08	13	54				
KIAA1109	84162	broad.mit.edu	37	4	123192658	123192658	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr4:123192658G>A	ENST00000264501.4	+	47	8352	c.7979G>A	c.(7978-7980)aGa>aAa	p.R2660K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R2660K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R2660K			Q2LD37	K1109_HUMAN	KIAA1109	2660					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATTAGGAAGATCTGAAAGA	0.353																																							uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(7978-7980)AGA>AAA		fragile site-associated protein							76.0	72.0	73.0					4																	123192658		1851	4099	5950	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123192658G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7979G>A	4.37:g.123192658G>A	ENSP00000264501:p.Arg2660Lys					KIAA1109_uc003iel.1_Missense_Mutation_p.R595K|KIAA1109_uc003iek.2_Missense_Mutation_p.R1279K	p.R2660K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			45	8024	+			2660					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.7979G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.498802|4.498802	0.85069|0.85069	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.24723	.|2.44;2.44;1.84	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33962|0.33962	0.0881|0.0881	N|N	0.19112|0.19112	0.55|0.55	0.42929|0.42929	D|D	0.99431|0.99431	.|P;D;P	.|0.56035	.|0.902;0.974;0.956	.|P;D;D	.|0.67725	.|0.87;0.953;0.931	T|T	0.02484|0.02484	-1.1152|-1.1152	5|10	.|0.07175	.|T	.|0.84	.|.	20.2165|20.2165	0.98299|0.98299	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2660;2659;2660	.|Q2LD37-6;Q2LD37-2;Q2LD37	.|.;.;K1109_HUMAN	N|K	1233|2660	.|ENSP00000264501:R2660K;ENSP00000373390:R2660K;ENSP00000389925:R2660K	.|ENSP00000264501:R2660K	D|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123412108|123412108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.618000|8.618000	0.90932|0.90932	2.787000|2.787000	0.95880|0.95880	0.585000|0.585000	0.79938|0.79938	GAT|AGA		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	20	0	0	0	0.009096	0	4	20				
KIAA1109	84162	broad.mit.edu	37	4	123192663	123192663	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr4:123192663G>A	ENST00000264501.4	+	47	8357	c.7984G>A	c.(7984-7986)Gaa>Aaa	p.E2662K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E2662K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E2662K			Q2LD37	K1109_HUMAN	KIAA1109	2662					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGGAAGATCTGAAAGAAGAAC	0.348																																							uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(7984-7986)GAA>AAA		fragile site-associated protein							75.0	70.0	72.0					4																	123192663		1853	4107	5960	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123192663G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7984G>A	4.37:g.123192663G>A	ENSP00000264501:p.Glu2662Lys					KIAA1109_uc003iel.1_Missense_Mutation_p.E597K|KIAA1109_uc003iek.2_Missense_Mutation_p.E1281K	p.E2662K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			45	8029	+			2662					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.7984G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.510262	0.64522	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.23552	2.49;2.49;1.9	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	T	0.38799	0.1054	N	0.19112	0.55	0.53005	D	0.999961	D;D;D	0.67145	0.974;0.996;0.993	D;D;D	0.73708	0.953;0.981;0.971	T	0.12426	-1.0548	10	0.41790	T	0.15	.	20.2165	0.98299	0.0:0.0:1.0:0.0	.	2662;2661;2662	Q2LD37-6;Q2LD37-2;Q2LD37	.;.;K1109_HUMAN	K	2662	ENSP00000264501:E2662K;ENSP00000373390:E2662K;ENSP00000389925:E2662K	ENSP00000264501:E2662K	E	+	1	0	KIAA1109	123412113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.618000	0.90932	2.787000	0.95880	0.585000	0.79938	GAA		0.348	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		3	19	0	0	0	0.004672	0	3	19				
CEP72	55722	broad.mit.edu	37	5	639251	639251	+	Silent	SNP	G	G	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr5:639251G>T	ENST00000264935.5	+	8	1344	c.1254G>T	c.(1252-1254)ctG>ctT	p.L418L	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	418					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGACGGCCCTGCAGGCGGCGC	0.632																																							uc003jbf.2		NA																	0				ovary(1)	1						c.(1252-1254)CTG>CTT		centrosomal protein 72 kDa							35.0	41.0	39.0					5																	639251		2203	4300	6503	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:639251G>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1254G>T	5.37:g.639251G>T						CEP72_uc011clz.1_RNA	p.L418L	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		8	1326	+			418					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.1254G>T	CCDS34126.1																																																																																				0.632	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		19	53	1	0	1.67942e-08	0.006122	2.18833e-08	19	53				
ITGA1	3672	broad.mit.edu	37	5	52235460	52235460	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr5:52235460G>A	ENST00000282588.6	+	25	3577	c.3119G>A	c.(3118-3120)aGt>aAt	p.S1040N	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1040					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GATCCTTTCAGTATCAACTCT	0.358																																							uc003jou.2		NA																	0				ovary(2)|lung(1)	3						c.(3118-3120)AGT>AAT		integrin, alpha 1 precursor							96.0	94.0	95.0					5																	52235460		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52235460G>A	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3119G>A	5.37:g.52235460G>A	ENSP00000282588:p.Ser1040Asn					ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.S571N	p.S1040N	NM_181501	NP_852478	P56199	ITA1_HUMAN			25	3171	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	1040			Extracellular (Potential).		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.3119G>A	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.111118	0.00353	.	.	ENSG00000213949	ENST00000282588	T	0.42131	0.98	6.05	2.99	0.34606	Integrin alpha-2 (1);	0.868768	0.10504	N	0.666930	T	0.23649	0.0572	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25328	-1.0135	10	0.16896	T	0.51	.	7.7311	0.28788	0.3008:0.0:0.6992:0.0	.	1040	P56199	ITA1_HUMAN	N	1040	ENSP00000282588:S1040N	ENSP00000282588:S1040N	S	+	2	0	ITGA1	52271217	0.033000	0.19621	0.015000	0.15790	0.006000	0.05464	0.682000	0.25335	0.707000	0.31934	0.650000	0.86243	AGT		0.358	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		5	20	0	0	0	0.001168	0	5	20				
CDHR2	54825	broad.mit.edu	37	5	176019778	176019778	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr5:176019778C>G	ENST00000510636.1	+	31	4063	c.3789C>G	c.(3787-3789)atC>atG	p.I1263M	CDHR2_ENST00000261944.5_Missense_Mutation_p.I1263M|CDHR2_ENST00000506348.1_Missense_Mutation_p.I1263M	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1263					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTCAGGAAATCAAGGCAAGAT	0.552																																							uc003mem.1		NA																	0				ovary(2)	2						c.(3787-3789)ATC>ATG		protocadherin LKC precursor							143.0	120.0	128.0					5																	176019778		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176019778C>G	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3789C>G	5.37:g.176019778C>G	ENSP00000424565:p.Ile1263Met					CDHR2_uc003men.1_Missense_Mutation_p.I1263M	p.I1263M	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			31	3855	+			1263			Cytoplasmic (Potential).		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.3789C>G	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	c	8.955	0.969051	0.18659	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.56103	0.48;0.48;0.48	3.86	1.88	0.25563	.	.	.	.	.	T	0.31295	0.0792	N	0.11255	0.115	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17899	-1.0354	9	0.23891	T	0.37	-2.7267	10.8182	0.46589	0.0:0.6278:0.3721:0.0	.	1263	Q9BYE9	CDHR2_HUMAN	M	1263	ENSP00000424565:I1263M;ENSP00000261944:I1263M;ENSP00000421078:I1263M	ENSP00000261944:I1263M	I	+	3	3	CDHR2	175952384	0.524000	0.26282	0.525000	0.27900	0.796000	0.44982	0.722000	0.25925	0.359000	0.24239	0.459000	0.35465	ATC		0.552	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		23	53	0	0	0	0.00632	0	23	53				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																													uc003nol.2		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(145-147)GTG>GTC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Silent_p.V49V|HLA-A_uc003noo.2_Silent_p.V49V|HLA-A_uc010jrr.2_Silent_p.V49V|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Silent_p.V21V|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	p.V49V	NM_002116	NP_002107	P30443	1A01_HUMAN			2	147	+			49			Extracellular (Potential).|Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		7	32	0	0	0	0.004482	0	7	32				
DNAH8	1769	broad.mit.edu	37	6	38843499	38843499	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr6:38843499G>A	ENST00000359357.3	+	51	7356	c.7102G>A	c.(7102-7104)Gaa>Aaa	p.E2368K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E2332K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E2585K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2368					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAAGCAGAGAAAAGCTTGA	0.398																																							uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(7102-7104)GAA>AAA		dynein, axonemal, heavy polypeptide 8							108.0	106.0	107.0					6																	38843499		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38843499G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7102G>A	6.37:g.38843499G>A	ENSP00000352312:p.Glu2368Lys						p.E2368K	NM_001371	NP_001362					51	7702	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7102G>A		.	.	.	.	.	.	.	.	.	.	G	2.621	-0.288523	0.05605	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.20738	2.05;2.05;2.05	5.62	4.76	0.60689	.	0.559796	0.20167	N	0.097827	T	0.03739	0.0106	N	0.25201	0.72	0.30785	N	0.741611	B	0.02656	0.0	B	0.06405	0.002	T	0.33803	-0.9854	10	0.05833	T	0.94	.	10.9242	0.47182	0.1433:0.0:0.8567:0.0	.	2368	Q96JB1	DYH8_HUMAN	K	2573;2573;2368;2332	ENSP00000333363:E2573K;ENSP00000352312:E2368K;ENSP00000402294:E2332K	ENSP00000333363:E2573K	E	+	1	0	DNAH8	38951477	0.998000	0.40836	0.958000	0.39756	0.292000	0.27327	2.487000	0.45268	1.391000	0.46566	0.655000	0.94253	GAA		0.398	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		4	43	0	0	0	0.001168	0	4	43				
L3MBTL3	84456	broad.mit.edu	37	6	130425623	130425623	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr6:130425623C>A	ENST00000529410.1	+	21	2268	c.1789C>A	c.(1789-1791)Cca>Aca	p.P597T	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.P572T|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.P597T|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.P572T|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.P572T|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.P597T			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	597					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CCGTATTTTTCCAGACCGCTT	0.378																																							uc003qbt.2		NA																	0				ovary(5)|skin(1)	6						c.(1789-1791)CCA>ACA		l(3)mbt-like 3 isoform a							106.0	109.0	108.0					6																	130425623		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130425623C>A	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1789C>A	6.37:g.130425623C>A	ENSP00000431962:p.Pro597Thr					L3MBTL3_uc003qbu.2_Missense_Mutation_p.P572T	p.P597T	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	19	1959	+			597					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.1789C>A	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144810	0.37825	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	6.02	6.02	0.97574	.	0.048466	0.85682	D	0.000000	T	0.23370	0.0565	M	0.65498	2.005	0.53688	D	0.999975	P;B	0.36909	0.573;0.107	B;B	0.36666	0.23;0.058	T	0.03863	-1.0997	10	0.08599	T	0.76	.	11.3837	0.49771	0.0:0.9184:0.0:0.0816	.	572;597	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	T	597;572;597;572;572;597	ENSP00000431962:P597T;ENSP00000437185:P572T;ENSP00000354526:P597T;ENSP00000357121:P572T;ENSP00000436706:P572T;ENSP00000357118:P597T	ENSP00000354526:P597T	P	+	1	0	L3MBTL3	130467316	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.076000	0.57591	2.865000	0.98341	0.655000	0.94253	CCA		0.378	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		35	48	1	0	2.66277e-13	0.006999	3.88132e-13	35	48				
FTSJ2	29960	broad.mit.edu	37	7	2279318	2279318	+	Silent	SNP	G	G	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr7:2279318G>A	ENST00000242257.8	-	2	61	c.33C>T	c.(31-33)tcC>tcT	p.S11S	NUDT1_ENST00000356714.1_5'Flank|NUDT1_ENST00000397046.1_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|NUDT1_ENST00000397048.1_5'Flank|FTSJ2_ENST00000440306.2_Silent_p.S11S|NUDT1_ENST00000397049.1_5'Flank|FTSJ2_ENST00000407040.1_5'Flank	NM_013393.1	NP_037525.1			FtsJ RNA methyltransferase homolog 2 (E. coli)											endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		GACGCTGAAAGGAAACACACA	0.577																																							uc003slm.2		NA																	0				ovary(1)	1						c.(31-33)TCC>TCT		FtsJ homolog 2							85.0	84.0	85.0					7																	2279318		2203	4300	6503	SO:0001819	synonymous_variant	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2279318G>A	AF093415	CCDS5328.1	7p22	2012-06-12	2012-06-12		ENSG00000122687	ENSG00000122687			16352	protein-coding gene	gene with protein product	"""rRNA (uridine-2'-O-)-methyltransferase"", ""MRM2 RNA methyltransferase homolog (S. cerevisiae)"""	606906				11827451	Standard	NM_013393		Approved	FJH1, MRM2	uc003slm.3	Q9UI43	OTTHUMG00000023866	ENST00000242257.8:c.33C>T	7.37:g.2279318G>A						FTSJ2_uc003slk.2_Intron|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_Intron|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	p.S11S	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	2	62	-		Ovarian(82;0.0253)	11						Silent	SNP	ENST00000242257.8	37	c.33C>T	CCDS5328.1																																																																																				0.577	FTSJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060187.1	NM_013393		13	86	0	0	0	0.006122	0	13	86				
SNX8	29886	broad.mit.edu	37	7	2309240	2309240	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr7:2309240C>A	ENST00000222990.3	-	5	617	c.575G>T	c.(574-576)tGc>tTc	p.C192F		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	192					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GTCCCCGACGCACTGTGCTGA	0.393																																							uc003slw.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(574-576)TGC>TTC		sorting nexin 8							83.0	74.0	77.0					7																	2309240		2203	4300	6503	SO:0001583	missense	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2309240C>A	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.575G>T	7.37:g.2309240C>A	ENSP00000222990:p.Cys192Phe						p.C192F	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	5	618	-		Ovarian(82;0.11)	192					A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.575G>T	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.043346	0.00398	.	.	ENSG00000106266	ENST00000222990;ENST00000435060;ENST00000457286;ENST00000435336	.	.	.	3.64	1.73	0.24493	Phox homologous domain (1);	0.694491	0.14513	N	0.315011	T	0.24967	0.0606	N	0.22421	0.69	0.22710	N	0.99883	B	0.10296	0.003	B	0.04013	0.001	T	0.24728	-1.0152	9	0.09843	T	0.71	.	10.4382	0.44448	0.3551:0.6449:0.0:0.0	.	192	Q9Y5X2	SNX8_HUMAN	F	192;178;139;139	.	ENSP00000222990:C192F	C	-	2	0	SNX8	2275766	0.011000	0.17503	0.012000	0.15200	0.280000	0.26924	1.258000	0.32944	0.143000	0.18926	-0.521000	0.04368	TGC		0.393	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			7	28	1	0	1.26484e-09	0.00308	1.69964e-09	7	28				
PKD1L1	168507	broad.mit.edu	37	7	47882684	47882684	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr7:47882684A>G	ENST00000289672.2	-	34	5371	c.5321T>C	c.(5320-5322)gTa>gCa	p.V1774A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1774					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATGATGATCTACTTGTCTACT	0.413																																							uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(5320-5322)GTA>GCA		polycystin-1L1							62.0	63.0	63.0					7																	47882684		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47882684A>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5321T>C	7.37:g.47882684A>G	ENSP00000289672:p.Val1774Ala						p.V1774A	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			34	5321	-			1774			Cytoplasmic (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.5321T>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	10.51	1.371283	0.24771	.	.	ENSG00000158683	ENST00000289672	T	0.15952	2.38	5.66	-0.857	0.10693	.	1.011940	0.07923	N	0.976283	T	0.08088	0.0202	L	0.29908	0.895	0.09310	N	1	B	0.26483	0.15	B	0.15052	0.012	T	0.36601	-0.9741	10	0.07644	T	0.81	-2.4804	1.8276	0.03124	0.3441:0.1605:0.3566:0.1388	.	1774	Q8TDX9	PK1L1_HUMAN	A	1774	ENSP00000289672:V1774A	ENSP00000289672:V1774A	V	-	2	0	PKD1L1	47849209	0.000000	0.05858	0.001000	0.08648	0.361000	0.29550	-0.050000	0.11904	0.125000	0.18397	0.533000	0.62120	GTA		0.413	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		6	23	0	0	0	0.001984	0	6	23				
EGFR	1956	broad.mit.edu	37	7	55242490	55242490	+	Missense_Mutation	SNP	A	A	G	rs397517101|rs121913463|rs397517100|rs397517099		TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr7:55242490A>G	ENST00000275493.2	+	19	2437	c.2260A>G	c.(2260-2262)Aaa>Gaa	p.K754E	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.K701E|EGFR_ENST00000455089.1_Missense_Mutation_p.K709E	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	754	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.S752_I759del(13)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.T751_I759del(2)|p.A750_E758>P(2)|p.L747_K754del(2)|p.K754E(2)|p.L747_K754>ST(1)|p.K754A(1)|p.A750_E758del(1)|p.T751_I759>REA(1)|p.A750_K754del(1)|p.T751_E758del(1)|p.L747_K754>N(1)|p.P753_I759del(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AACATCTCCGAAAGCCAACAA	0.493		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		40	Deletion - In frame(21)|Complex - deletion inframe(16)|Substitution - Missense(3)	p.S752_I759del(15)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.A750_E758>P(3)|p.A750_K757del(2)|p.A750_E758del(2)|p.T751_I759>NKA(2)|p.E749_E758>QP(2)|p.T751_E758del(2)|p.K754E(2)|p.L747_K754>ST(1)|p.L747_N756>SKDD(1)|p.T751_E758>A(1)|p.T751_I759>REA(1)|p.L747_A755del(1)|p.P753_I759del(1)|p.K754R(1)|p.K754K(1)|p.K754A(1)|p.L747_A755>SKS(1)|p.L747_K754>N(1)|p.A750_K754del(1)|p.L747_K754del(1)|p.L747_K754>GC(1)|p.S752_V769del(1)	lung(38)|breast(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2260-2262)AAA>GAA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						100.0	96.0	97.0					7																	55242490		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55242490A>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2260A>G	7.37:g.55242490A>G	ENSP00000275493:p.Lys754Glu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.K709E|EGFR_uc011kco.1_Missense_Mutation_p.K701E	p.K754E	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2506	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		754		Missing (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2260A>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405164	0.62288	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82081	-1.57;-1.57;-1.57	5.45	5.45	0.79879	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	N	0.03608	-0.345	0.45035	D	0.998051	B;P	0.41393	0.383;0.748	B;P	0.49332	0.245;0.607	T	0.81579	-0.0868	10	0.87932	D	0	.	14.3314	0.66559	1.0:0.0:0.0:0.0	.	709;754	Q504U8;P00533	.;EGFR_HUMAN	E	709;624;754;701	ENSP00000415559:K709E;ENSP00000275493:K754E;ENSP00000395243:K701E	ENSP00000275493:K754E	K	+	1	0	EGFR	55209984	1.000000	0.71417	0.935000	0.37517	0.740000	0.42216	9.236000	0.95360	2.068000	0.61886	0.459000	0.35465	AAA		0.493	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		9	34	0	0	0	0.006214	0	9	34				
CUL1	8454	broad.mit.edu	37	7	148497609	148497609	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr7:148497609C>G	ENST00000325222.4	+	22	2545	c.2266C>G	c.(2266-2268)Cta>Gta	p.L756V	CUL1_ENST00000602748.1_Missense_Mutation_p.L756V|CUL1_ENST00000409469.1_Missense_Mutation_p.L756V	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	756					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CATTGACATTCTAATTGAGAA	0.428																																							uc010lpg.2		NA																	0				lung(1)	1						c.(2266-2268)CTA>GTA		cullin 1							100.0	93.0	95.0					7																	148497609		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148497609C>G	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.2266C>G	7.37:g.148497609C>G	ENSP00000326804:p.Leu756Val					CUL1_uc003wey.2_Missense_Mutation_p.L756V|CUL1_uc003wez.2_Missense_Mutation_p.L646V|CUL1_uc003wfa.2_Missense_Mutation_p.L417V	p.L756V	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		22	2792	+	Melanoma(164;0.15)		756					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.2266C>G	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	.	18.82	3.705683	0.68615	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	D;D	0.93604	-3.25;-3.25	5.48	5.48	0.80851	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.97914	0.9314	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	D	0.98920	1.0783	10	0.87932	D	0	-2.8661	14.5974	0.68417	0.0:0.9277:0.0:0.0723	.	683;756	E7EWR0;Q13616	.;CUL1_HUMAN	V	756;756;683	ENSP00000387160:L756V;ENSP00000326804:L756V	ENSP00000326804:L756V	L	+	1	2	CUL1	148128542	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.473000	0.60196	2.575000	0.86900	0.467000	0.42956	CTA		0.428	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		9	32	0	0	0	0.004482	0	9	32				
DNAJB6	10049	broad.mit.edu	37	7	157174955	157174955	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr7:157174955A>T	ENST00000262177.4	+	6	567	c.362A>T	c.(361-363)gAc>gTc	p.D121V	DNAJB6_ENST00000429029.2_Missense_Mutation_p.D121V|DNAJB6_ENST00000443280.1_Intron|DNAJB6_ENST00000452797.2_Missense_Mutation_p.D72V	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	121	Gly/Phe-rich.|Interaction with HSP70.|Interaction with KRT18.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CCTTTTGAGGACTTCTTTGGG	0.418																																					Esophageal Squamous(46;195 967 1350 20350 43814)	Esophageal Squamous(46;195 967 1350 20350 43814)	uc003wnk.2		NA																	0				ovary(2)	2						c.(361-363)GAC>GTC		DnaJ (Hsp40) homolog, subfamily B, member 6							84.0	88.0	87.0					7																	157174955		2203	4300	6503	SO:0001583	missense	10049				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding	g.chr7:157174955A>T	AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"""Heat shock proteins / DNAJ (HSP40)"""	14888	protein-coding gene	gene with protein product		611332	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.362A>T	7.37:g.157174955A>T	ENSP00000262177:p.Asp121Val					DNAJB6_uc003wnj.2_Missense_Mutation_p.D121V|DNAJB6_uc003wnl.2_Missense_Mutation_p.D108V|DNAJB6_uc011kvy.1_Missense_Mutation_p.D72V|DNAJB6_uc011kvz.1_Intron|DNAJB6_uc010lqt.2_Missense_Mutation_p.D121V	p.D121V	NM_058246	NP_490647	O75190	DNJB6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	6	516	+	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	121			Gly/Phe-rich.|Interaction with HSP70.|Interaction with KRT18.		A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Missense_Mutation	SNP	ENST00000262177.4	37	c.362A>T	CCDS5946.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.662256	0.47572	.	.	ENSG00000105993	ENST00000441561;ENST00000429029;ENST00000262177;ENST00000417758;ENST00000452797;ENST00000421417;ENST00000412557	T;T;T;T;T;T	0.76186	-1.0;0.71;0.71;0.71;0.71;-1.0	4.98	3.83	0.44106	.	.	.	.	.	T	0.76659	0.4018	L	0.59912	1.85	0.80722	D	1	D;P;P;B	0.55800	0.973;0.747;0.747;0.235	P;B;B;B	0.53593	0.73;0.327;0.327;0.193	T	0.76724	-0.2854	9	0.46703	T	0.11	.	10.0205	0.42039	0.9203:0.0:0.0797:0.0	.	72;121;121;121	B4DN73;A8KAG0;O75190;O75190-2	.;.;DNJB6_HUMAN;.	V	121;121;121;121;72;121;121	ENSP00000410643:D121V;ENSP00000397556:D121V;ENSP00000262177:D121V;ENSP00000400665:D121V;ENSP00000402270:D72V;ENSP00000403407:D121V	ENSP00000262177:D121V	D	+	2	0	DNAJB6	156867716	1.000000	0.71417	0.998000	0.56505	0.592000	0.36648	5.915000	0.69973	1.880000	0.54463	0.454000	0.30748	GAC		0.418	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2			11	39	0	0	0	0.008291	0	11	39				
LETM2	137994	broad.mit.edu	37	8	38250462	38250462	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr8:38250462G>T	ENST00000379957.4	+	3	577	c.450G>T	c.(448-450)atG>atT	p.M150I	LETM2_ENST00000297720.5_Missense_Mutation_p.M103I|LETM2_ENST00000524874.1_Missense_Mutation_p.M150I|LETM2_ENST00000523983.2_Missense_Mutation_p.M103I|LETM2_ENST00000519476.2_Missense_Mutation_p.M150I	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	150	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CTGCCAGAATGGTTTGGAGGC	0.373																																							uc003xlm.1		NA																	0					0						c.(307-309)ATG>ATT		leucine zipper-EF-hand containing transmembrane							66.0	66.0	66.0					8																	38250462		2203	4300	6503	SO:0001583	missense	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38250462G>T	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.450G>T	8.37:g.38250462G>T	ENSP00000369291:p.Met150Ile					LETM2_uc003xlk.2_Missense_Mutation_p.M150I|LETM2_uc011lbn.1_5'UTR|LETM2_uc003xll.1_Missense_Mutation_p.M103I|LETM2_uc003xln.1_5'UTR|LETM2_uc003xlo.1_5'UTR	p.M103I	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		3	480	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	150			LETM1.|Mitochondrial intermembrane (Potential).		A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	ENST00000379957.4	37	c.309G>T		.	.	.	.	.	.	.	.	.	.	G	15.60	2.882549	0.51908	.	.	ENSG00000165046	ENST00000519476;ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.66	3.8	0.43715	LETM1-like (1);	0.126397	0.64402	N	0.000001	T	0.21509	0.0518	N	0.12746	0.255	0.80722	D	1	B;B;B	0.20550	0.004;0.046;0.034	B;B;B	0.24974	0.012;0.04;0.057	T	0.05338	-1.0891	10	0.39692	T	0.17	.	10.5428	0.45043	0.0693:0.0:0.7973:0.1334	.	150;150;150	Q2VYF4;E9PMA4;A8K1M9	LETM2_HUMAN;.;.	I	150;103;150;150;103	ENSP00000429269:M150I;ENSP00000297720:M103I;ENSP00000431211:M150I;ENSP00000369291:M150I;ENSP00000428765:M103I	ENSP00000297720:M103I	M	+	3	0	LETM2	38369619	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.240000	0.65378	1.384000	0.46424	0.655000	0.94253	ATG		0.373	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		9	15	1	0	1.11149e-13	0.008291	1.70693e-13	9	15				
ZFHX4	79776	broad.mit.edu	37	8	77617547	77617548	+	Missense_Mutation	DNP	GG	GG	CT	rs13250763		TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr8:77617547_77617548GG>CT	ENST00000521891.2	+	2	1672_1673	c.1224_1225GG>CT	c.(1222-1227)ctGGgg>ctCTgg	p.G409W	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G409W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G409W|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G409W|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGTGAATCTGGGGGGGCTGTC	0.535										HNSCC(33;0.089)																													uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1222-1227)CTGGGG>CTCTGG		zinc finger homeodomain 4																																				SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617547_77617548GG>CT		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	Exception_encountered	8.37:g.77617547_77617548delinsCT	ENSP00000430497:p.Gly409Trp	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.G409W|ZFHX4_uc003yau.1_Missense_Mutation_p.G409W|ZFHX4_uc003yaw.1_Missense_Mutation_p.G409W	p.G409W	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1611_1612	+			409					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	DNP	ENST00000521891.2	37	c.1224_1225GG>CT	CCDS47878.2																																																																																				0.535	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		7	16	0	0	0	0.004672	0	7	16				
SPATA31C1	441452	broad.mit.edu	37	9	90538360	90538360	+	RNA	SNP	C	C	G	rs543904873	byFrequency	TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr9:90538360C>G	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCGAAGACACCCAGTGCCTC	0.542													.|||	83	0.0165735	0.0038	0.0303	5008	,	,		18900	0.0		0.0507	False		,,,				2504	0.0061						uc010mqi.2		NA																	0					0						c.(3538-3540)CCC>GCC		family with sequence similarity 75, member C1							8.0	7.0	7.0					9																	90538360		684	1559	2243			441452							g.chr9:90538360C>G	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90538360C>G						FAM75C1_uc004apq.3_Missense_Mutation_p.P1163A	p.P1180A	NM_001145124	NP_001138596					4	3567	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.3538C>G																																																																																					0.542	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		3	69	0	0	0	0.009096	0	3	69				
LAMC3	10319	broad.mit.edu	37	9	133936562	133936562	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr9:133936562C>T	ENST00000361069.4	+	13	2432	c.2299C>T	c.(2299-2301)Cca>Tca	p.P767S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	767	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TACGACCATCCCAGAGAGCCG	0.677																																							uc004caa.1		NA																	0				ovary(2)|pancreas(1)	3						c.(2299-2301)CCA>TCA		laminin, gamma 3 precursor							42.0	39.0	40.0					9																	133936562		2203	4299	6502	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133936562C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2299C>T	9.37:g.133936562C>T	ENSP00000354360:p.Pro767Ser						p.P767S	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	13	2397	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	767			Laminin EGF-like 7.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.2299C>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825342	0.71143	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.61158	0.13	4.79	4.79	0.61399	EGF-like, laminin (3);	0.123070	0.56097	D	0.000039	T	0.69663	0.3136	L	0.58669	1.825	0.41332	D	0.987245	D	0.54397	0.966	P	0.59357	0.856	T	0.73282	-0.4032	10	0.59425	D	0.04	.	16.4026	0.83647	0.0:1.0:0.0:0.0	.	767	Q9Y6N6	LAMC3_HUMAN	S	767	ENSP00000354360:P767S	ENSP00000347156:P767S	P	+	1	0	LAMC3	132926383	0.941000	0.31946	0.964000	0.40570	0.707000	0.40811	2.838000	0.48199	2.216000	0.71823	0.557000	0.71058	CCA		0.677	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		12	18	0	0	0	0.010729	0	12	18				
GTF3C4	9329	broad.mit.edu	37	9	135553884	135553884	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr9:135553884C>T	ENST00000372146.4	+	2	1442	c.878C>T	c.(877-879)cCg>cTg	p.P293L	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	293					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TTTCAGCTGCCGTTTGTAGGA	0.473																																					Pancreas(142;417 1875 11086 31973 47667)	Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(877-879)CCG>CTG		general transcription factor IIIC 4							120.0	115.0	116.0					9																	135553884		2203	4300	6503	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135553884C>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.878C>T	9.37:g.135553884C>T	ENSP00000361219:p.Pro293Leu					GTF3C4_uc010mzw.2_RNA	p.P293L	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	1136	+			293					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.878C>T	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327976	0.81690	.	.	ENSG00000125484	ENST00000372146	T	0.62941	-0.01	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73672	-0.3909	10	0.87932	D	0	-26.7933	18.671	0.91512	0.0:1.0:0.0:0.0	.	293	Q9UKN8	TF3C4_HUMAN	L	293	ENSP00000361219:P293L	ENSP00000361219:P293L	P	+	2	0	GTF3C4	134543705	1.000000	0.71417	0.880000	0.34516	0.945000	0.59286	7.104000	0.77024	2.756000	0.94617	0.561000	0.74099	CCG		0.473	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			6	50	0	0	0	0.001168	0	6	50				
SDCCAG3	10807	broad.mit.edu	37	9	139301868	139301868	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr9:139301868C>A	ENST00000357365.3	-	5	677	c.548G>T	c.(547-549)gGa>gTa	p.G183V	SDCCAG3_ENST00000298537.7_Missense_Mutation_p.G160V|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.G110V|SDCCAG3_ENST00000461693.1_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	183						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CCCACTCCATCCGGTGTCCTC	0.622																																							uc004chi.2		NA																	0					0						c.(547-549)GGA>GTA		serologically defined colon cancer antigen 3							20.0	25.0	23.0					9																	139301868		2043	4196	6239	SO:0001583	missense	10807					cytoplasm		g.chr9:139301868C>A	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.548G>T	9.37:g.139301868C>A	ENSP00000349929:p.Gly183Val					SDCCAG3_uc004chj.2_Missense_Mutation_p.G160V|SDCCAG3_uc004chk.2_Missense_Mutation_p.G110V	p.G183V	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	5	753	-		Myeloproliferative disorder(178;0.0511)	183					A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	37	c.548G>T	CCDS43904.1	.	.	.	.	.	.	.	.	.	.	C	7.624	0.677421	0.14841	.	.	ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725;ENST00000371723	T;T;T;T	0.31769	2.48;2.52;2.51;1.48	5.08	1.75	0.24633	.	1.150240	0.06464	N	0.729994	T	0.29190	0.0726	L	0.56769	1.78	0.19300	N	0.999974	P;P;P	0.38922	0.461;0.651;0.651	B;B;B	0.40009	0.316;0.28;0.28	T	0.23726	-1.0180	10	0.25751	T	0.34	-25.0292	3.2736	0.06891	0.0:0.3364:0.2679:0.3957	.	110;160;183	Q96C92-4;Q96C92-2;Q96C92	.;.;SDCG3_HUMAN	V	183;160;110;133	ENSP00000349929:G183V;ENSP00000298537:G160V;ENSP00000360790:G110V;ENSP00000360788:G133V	ENSP00000298537:G160V	G	-	2	0	SDCCAG3	138421689	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	0.368000	0.20399	0.525000	0.28522	-0.194000	0.12790	GGA		0.622	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		5	20	1	0	1.23904e-05	0.000602	1.47996e-05	5	20				
ASB12	142689	broad.mit.edu	37	X	63444984	63444984	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chrX:63444984C>A	ENST00000396130.2	-	1	519	c.520G>T	c.(520-522)Ggc>Tgc	p.G174C	MTMR8_ENST00000453546.1_Missense_Mutation_p.G558C|ASB12_ENST00000362002.2_Missense_Mutation_p.G183C			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	174					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TAGAGGGGGCCAGAACATGAA	0.562																																							uc011mou.1		NA																	2	Whole gene deletion(2)		ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1672-1674)GGC>TGC		myotubularin related protein 8							76.0	68.0	71.0					X																	63444984		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444984C>A	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.520G>T	X.37:g.63444984C>A	ENSP00000379435:p.Gly174Cys					ASB12_uc004dvp.1_Missense_Mutation_p.G174C|ASB12_uc004dvq.1_Missense_Mutation_p.G183C|ASB12_uc004dvr.1_Missense_Mutation_p.G183C	p.G558C	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			10	1740	-			Error:Variant_position_missing_in_Q96EF0_after_alignment					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1672G>T		.	.	.	.	.	.	.	.	.	.	C	19.39	3.818093	0.71028	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.76709	0.01;0.04;-1.04	4.0	4.0	0.46444	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	N	0.02357	-0.585	0.37242	D	0.906169	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81839	-0.0748	10	0.54805	T	0.06	-2.8088	14.2368	0.65932	0.0:1.0:0.0:0.0	.	558;174	B4DQL0;Q8WXK4	.;ASB12_HUMAN	C	183;174;183;558	ENSP00000355195:G183C;ENSP00000379435:G174C;ENSP00000394003:G558C	ENSP00000354626:G183C	G	-	1	0	ASB12;MTMR8	63361709	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.023000	0.76437	1.986000	0.57962	0.468000	0.43344	GGC		0.562	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				6	18	1	0	0.00198382	0.001984	0.00221569	6	18				
DLG3	1741	broad.mit.edu	37	X	69719800	69719800	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chrX:69719800G>A	ENST00000374360.3	+	16	2279	c.2046G>A	c.(2044-2046)atG>atA	p.M682I	DLG3_ENST00000374355.3_Missense_Mutation_p.M377I|DLG3_ENST00000194900.4_Missense_Mutation_p.M714I|DLG3_ENST00000542398.1_Missense_Mutation_p.M231I|DLG3_ENST00000461646.1_3'UTR	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	682	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GAGAACAAATGGAGAAAGATA	0.488																																							uc004dyi.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(2044-2046)ATG>ATA		synapse-associated protein 102 isoform a							100.0	75.0	83.0					X																	69719800		2203	4300	6503	SO:0001583	missense	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69719800G>A	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.2046G>A	X.37:g.69719800G>A	ENSP00000363480:p.Met682Ile					DLG3_uc004dyj.1_Missense_Mutation_p.M377I|DLG3_uc011mpn.1_Missense_Mutation_p.M230I	p.M682I	NM_021120	NP_066943	Q92796	DLG3_HUMAN			16	2374	+	Renal(35;0.156)		682			Guanylate kinase-like.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.2046G>A	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715815	0.89112	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.65	5.65	0.86999	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.84433	2.695	0.80722	D	1	D;D;D	0.76494	0.97;0.999;0.991	D;D;D	0.79108	0.972;0.962;0.992	T	0.75288	-0.3370	9	.	.	.	.	17.55	0.87873	0.0:0.0:1.0:0.0	.	231;377;682	B4E0H1;Q5JUW6;Q92796	.;.;DLG3_HUMAN	I	714;682;377;231	ENSP00000194900:M714I;ENSP00000363480:M682I;ENSP00000363475:M377I;ENSP00000441393:M231I	.	M	+	3	0	DLG3	69636525	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.534000	0.82004	2.618000	0.88619	0.600000	0.82982	ATG		0.488	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		5	26	0	0	0	0.000602	0	5	26				
AFF2	2334	broad.mit.edu	37	X	148055037	148055037	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chrX:148055037G>T	ENST00000370460.2	+	16	3783	c.3304G>T	c.(3304-3306)Gcc>Tcc	p.A1102S	AFF2_ENST00000370457.5_Missense_Mutation_p.A1067S|AFF2_ENST00000286437.5_Missense_Mutation_p.A743S|AFF2_ENST00000342251.3_Missense_Mutation_p.A1069S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1102					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTATGCTGATGCCGCCCTCTC	0.468																																							uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(3304-3306)GCC>TCC		fragile X mental retardation 2							185.0	150.0	162.0					X																	148055037		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148055037G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3304G>T	X.37:g.148055037G>T	ENSP00000359489:p.Ala1102Ser					AFF2_uc004fcq.2_Missense_Mutation_p.A1092S|AFF2_uc004fcr.2_Missense_Mutation_p.A1063S|AFF2_uc011mxb.1_Missense_Mutation_p.A1067S|AFF2_uc004fcs.2_Missense_Mutation_p.A1067S|AFF2_uc011mxc.1_Missense_Mutation_p.A743S	p.A1102S	NM_002025	NP_002016	P51816	AFF2_HUMAN			16	3783	+	Acute lymphoblastic leukemia(192;6.56e-05)		1102					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3304G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926998	0.92389	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.72	5.72	0.89469	.	0.064020	0.64402	D	0.000009	D	0.89424	0.6711	M	0.85630	2.765	0.58432	D	0.999999	D;P;D;D;D;D	0.71674	0.971;0.843;0.994;0.997;0.997;0.998	D;P;D;D;D;D	0.71870	0.961;0.839;0.975;0.942;0.942;0.965	D	0.90348	0.4364	10	0.59425	D	0.04	.	18.8728	0.92322	0.0:0.0:1.0:0.0	.	743;1067;1067;1063;1092;1102	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	S	1102;1067;1069;743	ENSP00000359489:A1102S;ENSP00000359486:A1067S;ENSP00000345459:A1069S;ENSP00000286437:A743S	ENSP00000286437:A743S	A	+	1	0	AFF2	147862726	1.000000	0.71417	0.724000	0.30704	0.738000	0.42128	9.827000	0.99397	2.404000	0.81709	0.600000	0.82982	GCC		0.468	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		20	48	1	0	2.37509e-13	0.010504	3.52169e-13	20	48				
ELF3	1999	broad.mit.edu	37	1	201983060	201983060	+	Frame_Shift_Del	DEL	C	C	-	rs202089261		TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr1:201983060delC	ENST00000359651.3	+	7	4101	c.909delC	c.(907-909)ttcfs	p.F303fs	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Del_p.F303fs|ELF3_ENST00000367284.5_Frame_Shift_Del_p.F303fs					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AAGGCGTCTTCAAGTTCCTGC	0.582																																							uc001gxg.3		NA																	0					0						c.(907-909)TTCfs		E74-like factor 3 (ets domain transcription							95.0	77.0	83.0					1																	201983060		2203	4300	6503	SO:0001589	frameshift_variant	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201983060delC	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.909delC	1.37:g.201983060delC	ENSP00000352673:p.Phe303fs					ELF3_uc001gxi.3_Frame_Shift_Del_p.F303fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.F303fs	p.F303fs	NM_004433	NP_004424	P78545	ELF3_HUMAN			7	4101	+			303			ETS.			Frame_Shift_Del	DEL	ENST00000359651.3	37	c.909delC	CCDS1419.1																																																																																				0.582	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		11	20	NA	NA	NA	NA	NA	11	20	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228560034	228560034	+	Frame_Shift_Del	DEL	C	C	-	rs36119328	byFrequency	TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr1:228560034delC	ENST00000422127.1	+	94	21599	c.21555delC	c.(21553-21555)tacfs	p.Y7185fs	OBSCN_ENST00000570156.2_Frame_Shift_Del_p.Y8142fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.Y4819fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7185					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGGGGGCTACGCAGGCGTGG	0.667																																							uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(21553-21555)TACfs		obscurin, cytoskeletal calmodulin and							11.0	12.0	12.0					1																	228560034		2022	4163	6185	SO:0001589	frameshift_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228560034delC	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21555delC	1.37:g.228560034delC	ENSP00000409493:p.Tyr7185fs					OBSCN_uc001hsr.1_Frame_Shift_Del_p.Y1814fs	p.Y7185fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			94	21599	+		Prostate(94;0.0405)	7185					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	ENST00000422127.1	37	c.21555delC	CCDS58065.1																																																																																				0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	4	NA	NA	NA	NA	NA	5	4	---	---	---	---
DUXA	503835	broad.mit.edu	37	19	57666695	57666695	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr19:57666695delT	ENST00000554048.2	-	5	483	c.484delA	c.(484-486)aggfs	p.R162fs		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		ACAGGTTCCCTTTTTCTCTGG	0.408																																							uc002qoa.1		NA																	0				ovary(1)	1						c.(484-486)AGGfs		double homeobox A							101.0	86.0	91.0					19																	57666695		2203	4300	6503	SO:0001589	frameshift_variant	503835					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:57666695delT		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.484delA	19.37:g.57666695delT	ENSP00000452398:p.Arg162fs						p.R162fs	NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	5	529	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	162						Frame_Shift_Del	DEL	ENST00000554048.2	37	c.484delA	CCDS33126.1																																																																																				0.408	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		7	54	NA	NA	NA	NA	NA	7	54	---	---	---	---
TADA2B	93624	broad.mit.edu	37	4	7056195	7056196	+	Frame_Shift_Ins	INS	-	-	C	rs75397160		TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr4:7056195_7056196insC	ENST00000310074.7	+	2	866_867	c.677_678insC	c.(676-681)tacaatfs	p.N227fs	TADA2B_ENST00000515646.1_Frame_Shift_Ins_p.N135fs|TADA2B_ENST00000512388.1_Frame_Shift_Ins_p.N152fs	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	227					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y226*(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GCCCGTGACTACAATCTGGTGC	0.579																																							uc003gjw.3		NA																	1	Substitution - Nonsense(1)		prostate(1)		0						c.(676-678)TACfs		transcriptional adaptor 2 (ADA2 homolog,																																				SO:0001589	frameshift_variant	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056195_7056196insC	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.678dupC	4.37:g.7056196_7056196dupC	ENSP00000308022:p.Asn227fs					TADA2B_uc010idi.2_Frame_Shift_Ins_p.Y151fs	p.Y226fs	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN			2	828_829	+			226					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Frame_Shift_Ins	INS	ENST00000310074.7	37	c.677_678insC	CCDS47007.1																																																																																				0.579	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		31	105	NA	NA	NA	NA	NA	31	105	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55242466	55242474	+	In_Frame_Del	DEL	GAATTAAGA	GAATTAAGA	-	rs121913438|rs121913439|rs397517098|rs121913423|rs121913422|rs121913421|rs397517094|rs121913427|rs121913426|rs121913425|rs121913424|rs397517097|rs397509368|rs121913436|rs121913437|rs397517096|rs121913441|rs121913440|rs121913442|rs121913435|rs397517095		TCGA-55-7573-01A-11D-2036-08	TCGA-55-7573-11A-01D-2036-08	GAATTAAGA	GAATTAAGA	-	-	GAATTAAGA	GAATTAAGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	36b5181b-9b59-428a-9c0e-45ac9e0d1674	4cc8017b-3238-4cf0-9c04-4a739fe7b511	g.chr7:55242466_55242474delGAATTAAGA	ENST00000275493.2	+	19	2413_2421	c.2236_2244delGAATTAAGA	c.(2236-2244)gaattaagadel	p.ELR746del	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.ELR693del|EGFR_ENST00000455089.1_In_Frame_Del_p.ELR701del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		ELREAT -> A (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|ELREATS -> D (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CGCTATCAAGGAATTAAGAGAAGCAACAT	0.478	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2	E746_A750del(NCIH1650_LUNG)|E746K(HCC827_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1565	Deletion - In frame(1159)|Complex - deletion inframe(386)|Substitution - Missense(15)|Insertion - In frame(4)|Complex - compound substitution(1)	p.E746_A750del(1613)|p.L747_P753>S(110)|p.L747_A750>P(74)|p.E746_S752>V(67)|p.L747_T751del(62)|p.E746_T751>A(30)|p.L747_S752del(28)|p.L747_T751>P(20)|p.E746_T751del(18)|p.L747_E749del(18)|p.K745_E749del(14)|p.E746_E749del(12)|p.E746_S752del(10)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_P753>VS(6)|p.E746_A750>IP(5)|p.L747_T751>Q(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.E746_A750>QP(4)|p.E746V(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.L747S(3)|p.L747_S752>Q(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.E746_S752>T(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_T751>L(2)|p.E746K(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.K745_E746insVPVAIK(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.E746_T751>P(1)|p.E746del(1)|p.L747_S752>QH(1)|p.L747P(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_T751>A(1)|p.E746_P753>LS(1)|p.E746_P753>VQ(1)|p.E746_T751>LS(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746I(1)|p.L747_K754del(1)|p.R748I(1)|p.E746_A750>KP(1)|p.E746_A750>EP(1)	lung(1538)|upper_aerodigestive_tract(9)|salivary_gland(6)|thyroid(3)|large_intestine(2)|breast(2)|ovary(2)|central_nervous_system(1)|prostate(1)|kidney(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2236-2244)GAATTAAGAdel		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55242466_55242474delGAATTAAGA		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2236_2244delGAATTAAGA	7.37:g.55242466_55242474delGAATTAAGA	ENSP00000275493:p.Glu746_Arg748del	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_In_Frame_Del_p.ELR701del|EGFR_uc011kco.1_In_Frame_Del_p.ELR693del	p.ELR746del	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2482_2490	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		746_748		R -> P (found in a lung cancer sample).|Missing (found in a lung cancer sample).|Missing (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Del	DEL	ENST00000275493.2	37	c.2236_2244delGAATTAAGA	CCDS5514.1																																																																																				0.478	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		11	50	NA	NA	NA	NA	NA	11	50	---	---	---	---
