#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRAMEF18	391003	broad.mit.edu	37	1	13475012	13475012	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:13475012G>T	ENST00000376126.2	-	3	1116	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	373					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCGGCTCAGGGCAGGCAGG	0.572																																						uc009vnu.1		NA																	0					0						c.(1117-1119)CTG>ATG		PRAME family member 18																																				SO:0001583	missense	391003							g.chr1:13475012G>T			1p36.21	2013-01-17			ENSG00000204491			"""-"""	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1117C>A	1.37:g.13475012G>T	ENSP00000365294:p.Leu373Met						p.L373M	NM_001099850	NP_001093320	Q5VWM3	PRA18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1164	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	373						Missense_Mutation	SNP	ENST00000376126.2	37	c.1117C>A	CCDS41258.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632104	0.46944	.	.	ENSG00000204491	ENST00000376126	T	0.66280	-0.2	1.66	1.66	0.24008	.	0.091774	0.44688	D	0.000423	T	0.76898	0.4052	M	0.87180	2.865	0.26433	N	0.975908	D	0.89917	1.0	D	0.97110	1.0	T	0.64546	-0.6382	10	0.87932	D	0	.	6.7643	0.23558	0.0:0.0:1.0:0.0	.	373	Q5VWM3	PRA18_HUMAN	M	373	ENSP00000365294:L373M	ENSP00000365294:L373M	L	-	1	2	PRAMEF18	13347599	1.000000	0.71417	0.973000	0.42090	0.314000	0.28054	2.339000	0.43965	1.222000	0.43521	0.195000	0.17529	CTG		0.572	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008177.2	NM_001099850		6	179	1	0	0.00307968	0.00335965	6	179				
CLCNKB	1188	broad.mit.edu	37	1	16375690	16375690	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:16375690C>T	ENST00000375679.4	+	8	842	c.731C>T	c.(730-732)aCc>aTc	p.T244I	CLCNKB_ENST00000375667.3_Missense_Mutation_p.T75I	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	244					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCGGCCACCTGCGGGGCC	0.657																																						uc001axw.3		NA																	0				skin(1)	1						c.(730-732)ACC>ATC		chloride channel Kb isoform 1							68.0	76.0	73.0					1																	16375690		2203	4300	6503	SO:0001583	missense	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16375690C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.731C>T	1.37:g.16375690C>T	ENSP00000364831:p.Thr244Ile					FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.T244I|CLCNKB_uc001axy.3_Missense_Mutation_p.T75I	p.T244I	NM_000085	NP_000076	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	8	811	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	244			Helical; (Potential).		B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.731C>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	14.91	2.676293	0.47886	.	.	ENSG00000184908	ENST00000375679;ENST00000375667	D;D	0.93189	-3.18;-3.18	4.0	3.06	0.35304	Chloride channel, core (2);	0.107980	0.64402	D	0.000006	D	0.89044	0.6603	L	0.28344	0.845	0.38023	D	0.9349	B;B	0.29136	0.234;0.109	B;B	0.41691	0.271;0.364	D	0.84725	0.0742	10	0.21540	T	0.41	.	9.0359	0.36287	0.0:0.7571:0.1513:0.0915	.	75;244	Q5T5Q7;P51801	.;CLCKB_HUMAN	I	244;75	ENSP00000364831:T244I;ENSP00000364819:T75I	ENSP00000364819:T75I	T	+	2	0	CLCNKB	16248277	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	4.640000	0.61368	1.955000	0.56771	0.561000	0.74099	ACC		0.657	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		60	16	0	0	0	0	60	16				
PTCH2	8643	broad.mit.edu	37	1	45293266	45293266	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:45293266G>A	ENST00000372192.3	-	15	2309	c.2179C>T	c.(2179-2181)Ctg>Ttg	p.L727L	PTCH2_ENST00000447098.2_Silent_p.L727L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	727					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGGCGCTCAGGAAGGCATGC	0.637									Basal Cell Nevus syndrome																													uc010olf.1		NA																	0				lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(2179-2181)CTG>TTG		patched 2							69.0	76.0	73.0					1																	45293266		2203	4300	6503	SO:0001819	synonymous_variant	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45293266G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2179C>T	1.37:g.45293266G>A						PTCH2_uc010olg.1_Silent_p.L425L	p.L727L	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			15	2191	-	Acute lymphoblastic leukemia(166;0.155)		727			Extracellular (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.2179C>T	CCDS516.1																																																																																				0.637	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		32	8	0	0	0	0	32	8				
WDR78	79819	broad.mit.edu	37	1	67292683	67292683	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:67292683A>G	ENST00000371026.3	-	15	2214	c.2159T>C	c.(2158-2160)tTt>tCt	p.F720S	RP11-342H21.2_ENST00000456389.1_RNA|WDR78_ENST00000431318.1_Missense_Mutation_p.F433S	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	720					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACAGCTTAAAAATACATCATG	0.313																																						uc001dcx.2		NA																	0				ovary(2)	2						c.(2158-2160)TTT>TCT		WD repeat domain 78 isoform 1							131.0	134.0	133.0					1																	67292683		2203	4300	6503	SO:0001583	missense	79819							g.chr1:67292683A>G	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2159T>C	1.37:g.67292683A>G	ENSP00000360065:p.Phe720Ser					WDR78_uc009waw.2_Missense_Mutation_p.F433S|WDR78_uc009wax.2_RNA	p.F720S	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			15	2215	-			720			WD 4.		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.2159T>C	CCDS635.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.337260	0.81911	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.68624	0.07;-0.34;-0.34	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86201	0.5876	H	0.97265	3.97	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91292	0.5060	10	0.87932	D	0	-14.9512	14.993	0.71406	1.0:0.0:0.0:0.0	.	433;720	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	S	720;433;453	ENSP00000360065:F720S;ENSP00000393182:F433S;ENSP00000433682:F453S	ENSP00000360065:F720S	F	-	2	0	WDR78	67065271	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.861000	0.87004	1.941000	0.56285	0.454000	0.30748	TTT		0.313	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		31	40	0	0	0	0	31	40				
WDR3	10885	broad.mit.edu	37	1	118497948	118497948	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:118497948A>T	ENST00000349139.5	+	24	2467	c.2420A>T	c.(2419-2421)tAt>tTt	p.Y807F	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	807						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CCTTCAGCTTATGTATTAGAG	0.358																																						uc010oxe.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(2419-2421)TAT>TTT		WD repeat-containing protein 3							119.0	117.0	118.0					1																	118497948		2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118497948A>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2420A>T	1.37:g.118497948A>T	ENSP00000308179:p.Tyr807Phe					WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	p.Y807F	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	24	2486	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	807						Missense_Mutation	SNP	ENST00000349139.5	37	c.2420A>T	CCDS898.1	.	.	.	.	.	.	.	.	.	.	A	9.252	1.040975	0.19669	.	.	ENSG00000065183	ENST00000349139	T	0.64618	-0.11	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	L	0.43152	1.355	0.80722	D	1	P	0.34757	0.467	B	0.36719	0.231	T	0.38564	-0.9655	10	0.21014	T	0.42	-14.4681	14.1853	0.65601	1.0:0.0:0.0:0.0	.	807	Q9UNX4	WDR3_HUMAN	F	807	ENSP00000308179:Y807F	ENSP00000308179:Y807F	Y	+	2	0	WDR3	118299471	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	6.787000	0.75099	2.172000	0.68678	0.334000	0.21626	TAT		0.358	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		23	3	0	0	0	0	23	3				
WARS2	10352	broad.mit.edu	37	1	119619197	119619197	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:119619197G>T	ENST00000235521.4	-	2	150	c.124C>A	c.(124-126)Caa>Aaa	p.Q42K	WARS2_ENST00000537870.1_5'UTR|WARS2_ENST00000369426.5_Missense_Mutation_p.Q42K	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	42					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CCTGTAGGTTGAATGCCGGAA	0.438																																						uc001ehn.2		NA																	0					0						c.(124-126)CAA>AAA		mitochondrial tryptophanyl tRNA synthetase 2	L-Tryptophan(DB00150)						141.0	154.0	149.0					1																	119619197		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119619197G>T	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.124C>A	1.37:g.119619197G>T	ENSP00000235521:p.Gln42Lys					WARS2_uc010oxf.1_5'UTR|WARS2_uc001ehm.2_Missense_Mutation_p.Q42K|WARS2_uc010oxg.1_Missense_Mutation_p.Q42K|WARS2_uc010oxh.1_Missense_Mutation_p.Q42K|WARS2_uc010oxi.1_5'UTR	p.Q42K	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	2	152	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	42					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.124C>A	CCDS900.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996909	0.93167	.	.	ENSG00000116874	ENST00000369426;ENST00000235521	T;T	0.54279	0.58;0.58	5.78	5.78	0.91487	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.105890	0.64402	D	0.000003	T	0.71567	0.3355	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	0.99;0.999;1.0;0.997	D;D;D;D	0.97110	0.953;0.995;1.0;0.986	T	0.73720	-0.3894	10	0.87932	D	0	-25.0972	18.5556	0.91083	0.0:0.0:1.0:0.0	.	42;42;42;42	B7Z448;B7Z6G7;Q9UGM6;B1ALR1	.;.;SYWM_HUMAN;.	K	42	ENSP00000358434:Q42K;ENSP00000235521:Q42K	ENSP00000235521:Q42K	Q	-	1	0	WARS2	119420720	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.278000	0.95766	2.894000	0.99253	0.591000	0.81541	CAA		0.438	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		87	22	1	0	4e-49	5.15e-49	87	22				
LCE1E	353135	broad.mit.edu	37	1	152759999	152759999	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:152759999G>C	ENST00000368770.3	+	2	277	c.224G>C	c.(223-225)tGc>tCc	p.C75S	LCE1E_ENST00000368771.1_Missense_Mutation_p.C75S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	75	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGTGGCTGCTGCCTGAGC	0.687																																						uc001fan.2		NA																	0					0						c.(223-225)TGC>TCC		late cornified envelope 1E							36.0	45.0	42.0					1																	152759999		2202	4299	6501	SO:0001583	missense	353135				keratinization			g.chr1:152759999G>C	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.224G>C	1.37:g.152759999G>C	ENSP00000357759:p.Cys75Ser						p.C75S	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	277	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		75			Cys-rich.		D3DV30	Missense_Mutation	SNP	ENST00000368770.3	37	c.224G>C	CCDS1024.1	.	.	.	.	.	.	.	.	.	.	G	5.994	0.367304	0.11352	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.10960	2.82;2.82	4.06	4.06	0.47325	.	0.000000	0.38663	N	0.001603	T	0.09730	0.0239	M	0.88181	2.935	0.28950	N	0.89049	B	0.23891	0.093	B	0.20955	0.032	T	0.05321	-1.0892	10	0.87932	D	0	.	11.9094	0.52731	0.0:0.0:1.0:0.0	.	75	Q5T753	LCE1E_HUMAN	S	75	ENSP00000357760:C75S;ENSP00000357759:C75S	ENSP00000357759:C75S	C	+	2	0	LCE1E	151026623	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	4.306000	0.59117	2.237000	0.73441	0.514000	0.50259	TGC		0.687	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		4	117	0	0	0	0	4	117				
SMG5	23381	broad.mit.edu	37	1	156233237	156233237	+	Silent	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:156233237G>C	ENST00000361813.5	-	13	2124	c.1980C>G	c.(1978-1980)gtC>gtG	p.V660V	SMG5_ENST00000489907.2_5'Flank|SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	660					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGTCCAGGAAGACTTTCACAG	0.597																																						uc001foc.3		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1978-1980)GTC>GTG		SMG5 homolog nonsense mediated mRNA decay							130.0	108.0	115.0					1																	156233237		2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156233237G>C	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1980C>G	1.37:g.156233237G>C						SMG5_uc009wrv.2_Silent_p.V145V	p.V660V	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			13	2129	-	Hepatocellular(266;0.158)		660					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.1980C>G	CCDS1137.1																																																																																				0.597	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		52	67	0	0	0	0	52	67				
PVRL4	81607	broad.mit.edu	37	1	161049448	161049448	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:161049448T>C	ENST00000368012.3	-	2	673	c.371A>G	c.(370-372)gAg>gGg	p.E124G		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	124	Ig-like V-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCACTCGTACTCGCCCTCATC	0.716																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2		NA																	0				ovary(2)	2						c.(370-372)GAG>GGG		poliovirus receptor-related 4 precursor							14.0	16.0	15.0					1																	161049448		2184	4273	6457	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161049448T>C	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.371A>G	1.37:g.161049448T>C	ENSP00000356991:p.Glu124Gly						p.E124G	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		2	670	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		124			Ig-like V-type 1.|Extracellular (Potential).		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.371A>G	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.430162	0.43122	.	.	ENSG00000143217	ENST00000368012	T	0.65178	-0.14	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098908	0.44483	D	0.000446	T	0.30448	0.0765	L	0.38175	1.15	0.80722	D	1	P	0.39717	0.684	B	0.31946	0.138	T	0.22487	-1.0215	10	0.25106	T	0.35	.	9.9848	0.41835	0.0:0.0:0.17:0.8299	.	124	Q96NY8	PVRL4_HUMAN	G	124	ENSP00000356991:E124G	ENSP00000356991:E124G	E	-	2	0	PVRL4	159316072	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	1.738000	0.38207	2.145000	0.66743	0.528000	0.53228	GAG		0.716	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		6	13	0	0	0	0	6	13				
KIF21B	23046	broad.mit.edu	37	1	200956237	200956237	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:200956237G>A	ENST00000422435.2	-	25	3817	c.3501C>T	c.(3499-3501)tcC>tcT	p.S1167S	KIF21B_ENST00000332129.2_Silent_p.S1167S|KIF21B_ENST00000360529.5_Silent_p.S1167S|KIF21B_ENST00000461742.2_Silent_p.S1167S	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1167					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1167S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGGAGGCCAGGGACTTGGTGA	0.592																																						uc001gvs.1		NA																	1	Substitution - coding silent(1)		skin(1)	ovary(3)|skin(3)	6						c.(3499-3501)TCC>TCT		kinesin family member 21B							112.0	124.0	120.0					1																	200956237		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200956237G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3501C>T	1.37:g.200956237G>A						KIF21B_uc001gvr.1_Silent_p.S1167S|KIF21B_uc009wzl.1_Silent_p.S1167S|KIF21B_uc010ppn.1_Silent_p.S1167S	p.S1167S	NM_017596	NP_060066	O75037	KI21B_HUMAN			25	3818	-			1167					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.3501C>T	CCDS58056.1																																																																																				0.592	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		9	178	0	0	0	0	9	178				
MYOG	4656	broad.mit.edu	37	1	203054717	203054717	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:203054717C>T	ENST00000241651.4	-	1	447	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	125	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						TACTGGATGGCACTGCGCAGG	0.672																																						uc001gzd.2		NA																	0				skin(2)	2						c.(373-375)GCC>ACC		myogenin							63.0	66.0	65.0					1																	203054717		2203	4300	6503	SO:0001583	missense	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203054717C>T	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.373G>A	1.37:g.203054717C>T	ENSP00000241651:p.Ala125Thr						p.A125T	NM_002479	NP_002470	P15173	MYOG_HUMAN			1	661	-			125			Helix-loop-helix motif.		Q53XW6	Missense_Mutation	SNP	ENST00000241651.4	37	c.373G>A	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	C	34	5.367578	0.95900	.	.	ENSG00000122180	ENST00000241651	D	0.99422	-5.88	5.59	5.59	0.84812	Helix-loop-helix DNA-binding (5);	0.046655	0.85682	D	0.000000	D	0.99548	0.9838	M	0.85859	2.78	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	D	0.98556	1.0639	10	0.87932	D	0	-5.0997	19.5985	0.95549	0.0:1.0:0.0:0.0	.	125	P15173	MYOG_HUMAN	T	125	ENSP00000241651:A125T	ENSP00000241651:A125T	A	-	1	0	MYOG	201321340	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.773000	0.85462	2.636000	0.89361	0.563000	0.77884	GCC		0.672	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	NM_002479		10	55	0	0	0	0	10	55				
SIPA1L2	57568	broad.mit.edu	37	1	232650590	232650590	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:232650590T>C	ENST00000366630.1	-	2	854	c.496A>G	c.(496-498)Atc>Gtc	p.I166V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.I166V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	166					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATGTCACTGATAGTGACATCA	0.502																																						uc001hvg.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(496-498)ATC>GTC		signal-induced proliferation-associated 1 like							133.0	132.0	132.0					1																	232650590		1993	4155	6148	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650590T>C	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.496A>G	1.37:g.232650590T>C	ENSP00000355589:p.Ile166Val						p.I166V	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			1	654	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	166					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.496A>G	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112860	0.56398	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.49432	0.78;0.78	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.65498	2.005	0.53005	D	0.999965	P	0.49783	0.928	P	0.54629	0.757	T	0.63559	-0.6610	10	0.52906	T	0.07	-39.3575	15.2209	0.73310	0.0:0.0:0.0:1.0	.	166	Q9P2F8	SI1L2_HUMAN	V	166	ENSP00000355589:I166V;ENSP00000262861:I166V	ENSP00000262861:I166V	I	-	1	0	SIPA1L2	230717213	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.718000	0.68455	2.187000	0.69744	0.528000	0.53228	ATC		0.502	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		130	19	0	0	0	0	130	19				
CDH23	64072	broad.mit.edu	37	10	73405728	73405728	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:73405728C>T	ENST00000224721.6	+	12	1301	c.1296C>T	c.(1294-1296)taC>taT	p.Y432Y	CDH23_ENST00000461841.3_Silent_p.Y472Y|CDH23_ENST00000299366.7_Silent_p.Y472Y|CDH23_ENST00000398809.4_Silent_p.Y427Y|CDH23_ENST00000398842.3_Silent_p.Y427Y	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGACCGCTACGACTTTGATG	0.587																																						uc001jrx.3		NA																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(1279-1281)TAC>TAT		cadherin-like 23 isoform 1 precursor							74.0	73.0	73.0					10																	73405728		1966	4143	6109	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73405728C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1296C>T	10.37:g.73405728C>T						CDH23_uc001jrw.3_Silent_p.Y427Y|CDH23_uc001jry.2_Silent_p.Y43Y|CDH23_uc001jrz.2_Silent_p.Y43Y	p.Y427Y	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			12	1658	+			427			Cadherin 4.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.1281C>T																																																																																					0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		17	2	0	0	0	0	17	2				
AGAP5	729092	broad.mit.edu	37	10	75435138	75435138	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:75435138G>A	ENST00000374094.4	-	8	1320	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	AGAP5_ENST00000443782.2_Missense_Mutation_p.T404M|RP11-464F9.1_ENST00000399449.3_RNA|RP11-464F9.21_ENST00000607450.1_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	427	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CTCCTCATACGTCGTGGCTTC	0.512																																						uc009xri.2		NA																	0					0						c.(1279-1281)ACG>ATG		ArfGAP with GTPase domain, ankyrin repeat and PH							6.0	6.0	6.0					10																	75435138		685	1568	2253	SO:0001583	missense	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75435138G>A		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.1280C>T	10.37:g.75435138G>A	ENSP00000363207:p.Thr427Met					AGAP5_uc001juu.3_Missense_Mutation_p.T388M	p.T427M	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN			8	1321	-			427			PH.		A8MSN5	Missense_Mutation	SNP	ENST00000374094.4	37	c.1280C>T	CCDS44439.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251144	0.22880	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	T;T	0.23348	1.91;1.91	.	.	.	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.281689	0.34314	N	0.004074	T	0.36744	0.0978	L	0.52905	1.665	0.19300	N	0.999979	D	0.89917	1.0	D	0.83275	0.996	T	0.11155	-1.0599	9	0.87932	D	0	.	3.6382	0.08157	2.0E-4:0.4947:0.5049:2.0E-4	.	427	A6NIR3	AGAP5_HUMAN	M	427;404	ENSP00000363207:T427M;ENSP00000402792:T404M	ENSP00000363207:T427M	T	-	2	0	AGAP5	75105144	0.000000	0.05858	0.124000	0.21820	0.125000	0.20455	0.107000	0.15375	0.119000	0.18210	0.121000	0.15741	ACG		0.512	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		125	30	0	0	0	0	125	30				
PIK3AP1	118788	broad.mit.edu	37	10	98469638	98469638	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:98469638C>T	ENST00000339364.5	-	2	235	c.116G>A	c.(115-117)aGc>aAc	p.S39N		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	39	Necessary and sufficent to mediate inhibition of NF-kappa-B downstream of activated TLRs; may mediate interaction with MYD88 and TIRAP. {ECO:0000250}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TATCTTCTGGCTGCGGACCTG	0.622																																						uc001kmq.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(115-117)AGC>AAC		phosphoinositide-3-kinase adaptor protein 1							44.0	40.0	42.0					10																	98469638		2193	4291	6484	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98469638C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.116G>A	10.37:g.98469638C>T	ENSP00000339826:p.Ser39Asn						p.S39N	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	2	244	-		Colorectal(252;0.0442)	39					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.116G>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	4.342	0.062838	0.08388	.	.	ENSG00000155629	ENST00000339364	T	0.09255	3.0	5.15	1.62	0.23740	.	0.584042	0.18412	N	0.142035	T	0.03739	0.0106	N	0.03115	-0.41	0.22240	N	0.99927	B	0.02656	0.0	B	0.04013	0.001	T	0.41592	-0.9500	10	0.24483	T	0.36	-0.8804	4.8105	0.13340	0.0:0.3519:0.4944:0.1537	.	39	Q6ZUJ8	BCAP_HUMAN	N	39	ENSP00000339826:S39N	ENSP00000339826:S39N	S	-	2	0	PIK3AP1	98459628	0.645000	0.27286	0.368000	0.25939	0.394000	0.30568	1.042000	0.30303	0.629000	0.30376	0.655000	0.94253	AGC		0.622	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		20	16	0	0	0	0	20	16				
ATRNL1	26033	broad.mit.edu	37	10	117001476	117001476	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:117001476C>T	ENST00000355044.3	+	10	1775	c.1649C>T	c.(1648-1650)gCa>gTa	p.A550V		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	550					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTAACGGTGCAAAATGTTTT	0.363																																						uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(1648-1650)GCA>GTA		attractin-like 1 precursor							152.0	144.0	147.0					10																	117001476		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117001476C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1649C>T	10.37:g.117001476C>T	ENSP00000347152:p.Ala550Val						p.A550V	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	10	2035	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	550			Kelch 5.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1649C>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829794	0.91036	.	.	ENSG00000107518	ENST00000355044	T	0.15487	2.42	5.44	4.53	0.55603	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	M	0.87758	2.905	0.80722	D	1	P	0.42620	0.785	P	0.49012	0.598	T	0.49844	-0.8896	10	0.72032	D	0.01	-18.4036	16.5549	0.84482	0.0:0.8692:0.1308:0.0	.	550	Q5VV63	ATRN1_HUMAN	V	550	ENSP00000347152:A550V	ENSP00000347152:A550V	A	+	2	0	ATRNL1	116991466	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.701000	0.84566	1.428000	0.47296	0.655000	0.94253	GCA		0.363	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		28	3	0	0	0	0	28	3				
MGMT	4255	broad.mit.edu	37	10	131565232	131565232	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:131565232T>G	ENST00000306010.7	+	5	720	c.688T>G	c.(688-690)Tcg>Gcg	p.S230A	RP11-109A6.3_ENST00000428273.1_lincRNA	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	199					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	GGGAGCTACCTCGGGCTCCCC	0.637								Direct reversal of damage																														uc001lkh.2		NA																	0				ovary(1)|breast(1)	2						c.(688-690)TCG>GCG	Direct_reversal_of_damage	O-6-methylguanine-DNA methyltransferase							29.0	30.0	30.0					10																	131565232		2202	4300	6502	SO:0001583	missense	4255							g.chr10:131565232T>G	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.688T>G	10.37:g.131565232T>G	ENSP00000302111:p.Ser230Ala						p.S230A	NM_002412	NP_002403	P16455	MGMT_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	5	714	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	199					Q5VY78	Missense_Mutation	SNP	ENST00000306010.7	37	c.688T>G	CCDS7660.2	.	.	.	.	.	.	.	.	.	.	T	13.33	2.205985	0.39003	.	.	ENSG00000170430	ENST00000306010	T	0.05717	3.4	4.16	-8.32	0.00996	.	1.274430	0.05705	N	0.594763	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43814	-0.9368	10	0.23891	T	0.37	.	0.5482	0.00657	0.3112:0.2897:0.1889:0.2102	.	230	B4DEE8	.	A	230	ENSP00000302111:S230A	ENSP00000302111:S230A	S	+	1	0	MGMT	131455222	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.703000	0.05063	-1.292000	0.02366	-0.445000	0.05633	TCG		0.637	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		9	31	0	0	0	0	9	31				
OR56A1	120796	broad.mit.edu	37	11	6048216	6048216	+	Missense_Mutation	SNP	G	G	A	rs139301829		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:6048216G>A	ENST00000316650.5	-	1	755	c.719C>T	c.(718-720)gCg>gTg	p.A240V		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCACTGCCGCCCCCTCTGC	0.498													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21498	0.0		0.0	False		,,,				2504	0.0					uc010qzw.1		NA																	0				ovary(2)|breast(1)	3						c.(718-720)GCG>GTG		olfactory receptor, family 56, subfamily A,		G	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	49.0	48.0	48.0		719	3.3	0.6	11	dbSNP_134	48	0,8592		0,0,4296	yes	missense	OR56A1	NM_001001917.2	64	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	240/319	6048216	1,12993	2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048216G>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.719C>T	11.37:g.6048216G>A	ENSP00000321246:p.Ala240Val						p.A240V	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	719	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	240			Cytoplasmic (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.719C>T	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424014	0.25639	2.27E-4	0.0	ENSG00000180934	ENST00000316650	T	0.00145	8.67	4.27	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000729	T	0.00552	0.0018	M	0.92317	3.295	0.20196	N	0.999923	D	0.69078	0.997	D	0.68353	0.957	T	0.15636	-1.0430	10	0.72032	D	0.01	.	11.1515	0.48462	0.0917:0.0:0.9083:0.0	.	240	Q8NGH5	O56A1_HUMAN	V	240	ENSP00000321246:A240V	ENSP00000321246:A240V	A	-	2	0	OR56A1	6004792	0.074000	0.21230	0.623000	0.29173	0.003000	0.03518	2.503000	0.45407	1.145000	0.42336	-0.136000	0.14681	GCG		0.498	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		27	20	0	0	0	0	27	20				
MMP20	9313	broad.mit.edu	37	11	102479679	102479679	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:102479679T>G	ENST00000260228.2	-	5	812	c.800A>C	c.(799-801)cAg>cCg	p.Q267P	MMP20_ENST00000544938.1_5'Flank|RP11-817J15.2_ENST00000542119.1_RNA|RP11-817J15.2_ENST00000544115.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	276					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GTATAATGCCTGGATCCCTTT	0.433																																						uc001phc.2		NA																	0				urinary_tract(1)|skin(1)	2						c.(799-801)CAG>CCG		matrix metalloproteinase 20 preproprotein							151.0	135.0	140.0					11																	102479679		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102479679T>G	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.800A>C	11.37:g.102479679T>G	ENSP00000260228:p.Gln267Pro						p.Q267P	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	5	813	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	267					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.800A>C	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379517	0.61845	.	.	ENSG00000137674	ENST00000260228	T	0.26373	1.74	5.38	5.38	0.77491	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.110486	0.64402	D	0.000006	T	0.68100	0.2964	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81722	-0.0803	10	0.87932	D	0	.	15.2365	0.73436	0.0:0.0:0.0:1.0	.	267	O60882	MMP20_HUMAN	P	267	ENSP00000260228:Q267P	ENSP00000260228:Q267P	Q	-	2	0	MMP20	101984889	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	7.585000	0.82584	2.254000	0.74563	0.533000	0.62120	CAG		0.433	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			23	67	0	0	0	0	23	67				
USP28	57646	broad.mit.edu	37	11	113712437	113712437	+	Silent	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:113712437A>G	ENST00000003302.4	-	4	390	c.322T>C	c.(322-324)Ttg>Ctg	p.L108L	USP28_ENST00000545540.1_5'UTR|USP28_ENST00000260188.5_Silent_p.L108L|USP28_ENST00000537706.1_Silent_p.L108L|USP28_ENST00000542033.1_5'UTR	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	108					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGTAGACTCAAAGCAATGGCA	0.348																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NA																	0				lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(322-324)TTG>CTG		ubiquitin specific protease 28							138.0	141.0	140.0					11																	113712437		2201	4296	6497	SO:0001819	synonymous_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113712437A>G	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.322T>C	11.37:g.113712437A>G						USP28_uc010rwy.1_5'UTR|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Silent_p.L108L|USP28_uc010rwz.1_Silent_p.L108L	p.L108L	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	4	355	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	108			UIM.		B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	37	c.322T>C	CCDS31680.1																																																																																				0.348	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			55	48	0	0	0	0	55	48				
ABCG4	64137	broad.mit.edu	37	11	119027587	119027587	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:119027587G>C	ENST00000449422.2	+	9	1119	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	ABCG4_ENST00000531739.1_Missense_Mutation_p.E311Q|ABCG4_ENST00000307417.3_Missense_Mutation_p.E311Q	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	311					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCAGTCATCGAGGTGGCCTC	0.577																																						uc001pvs.2		NA																	0				ovary(2)	2						c.(931-933)GAG>CAG		ATP-binding cassette, subfamily G, member 4							149.0	145.0	146.0					11																	119027587		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119027587G>C	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.931G>C	11.37:g.119027587G>C	ENSP00000406874:p.Glu311Gln					ABCG4_uc009zar.2_Missense_Mutation_p.E311Q	p.E311Q	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	9	1267	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	311			Cytoplasmic (Potential).		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.931G>C	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260893	0.95368	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.56611	0.45;0.45;0.45	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.71264	0.3319	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72707	-0.4212	10	0.87932	D	0	-27.4304	19.3086	0.94175	0.0:0.0:1.0:0.0	.	311	Q9H172	ABCG4_HUMAN	Q	311	ENSP00000304111:E311Q;ENSP00000406874:E311Q;ENSP00000434318:E311Q	ENSP00000304111:E311Q	E	+	1	0	ABCG4	118532797	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	9.390000	0.97246	2.648000	0.89879	0.655000	0.94253	GAG		0.577	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		21	101	0	0	0	0	21	101				
TECTA	7007	broad.mit.edu	37	11	121016697	121016697	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:121016697A>G	ENST00000392793.1	+	12	4248	c.3977A>G	c.(3976-3978)aAc>aGc	p.N1326S	TECTA_ENST00000264037.2_Missense_Mutation_p.N1326S|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1326					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTCTATAAGAACTGCCTGTTT	0.567																																						uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(3976-3978)AAC>AGC		tectorin alpha precursor							116.0	110.0	112.0					11																	121016697		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121016697A>G	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3977A>G	11.37:g.121016697A>G	ENSP00000376543:p.Asn1326Ser						p.N1326S	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	11	3977	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1326						Missense_Mutation	SNP	ENST00000392793.1	37	c.3977A>G	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.861168	0.32884	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.75367	-0.93;-0.93	5.87	5.87	0.94306	Uncharacterised domain, cysteine-rich (2);	0.048778	0.85682	D	0.000000	T	0.57403	0.2051	N	0.12527	0.23	0.38588	D	0.950355	B	0.15141	0.012	B	0.14023	0.01	T	0.56631	-0.7947	10	0.12766	T	0.61	.	16.2567	0.82522	1.0:0.0:0.0:0.0	.	1326	O75443	TECTA_HUMAN	S	1326	ENSP00000376543:N1326S;ENSP00000264037:N1326S	ENSP00000264037:N1326S	N	+	2	0	TECTA	120521907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.242000	0.73789	0.482000	0.46254	AAC		0.567	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		73	103	0	0	0	0	73	103				
IFFO1	25900	broad.mit.edu	37	12	6659050	6659050	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:6659050G>T	ENST00000396840.2	-	4	984	c.943C>A	c.(943-945)Ctg>Atg	p.L315M	IFFO1_ENST00000356896.4_Missense_Mutation_p.L315M|IFFO1_ENST00000436152.2_Missense_Mutation_p.L8M|IFFO1_ENST00000465801.1_Missense_Mutation_p.L8M|IFFO1_ENST00000336604.4_Missense_Mutation_p.L315M			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	315						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TTGGTGTCCAGCTCCGACAGG	0.587																																						uc001qpd.1		NA																	0					0						c.(943-945)CTG>ATG		intermediate filament family orphan isoform 2							97.0	60.0	72.0					12																	6659050		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6659050G>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.943C>A	12.37:g.6659050G>T	ENSP00000380052:p.Leu315Met					IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_5'Flank|IFFO1_uc001qpb.1_Translation_Start_Site|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.L315M|IFFO1_uc001qpf.1_Missense_Mutation_p.L315M|IFFO1_uc001qoz.1_5'Flank|IFFO1_uc001qpc.1_Missense_Mutation_p.L315M|IFFO1_uc001qpg.2_5'Flank	p.L315M	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN			4	977	-			315					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.943C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.13|17.13	3.309609|3.309609	0.60414|0.60414	.|.	.|.	ENSG00000010295|ENSG00000010295	ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896|ENST00000416019	D;D;D;D;D|.	0.95756|.	-3.59;-3.79;-3.77;-3.68;-3.8|.	3.95|3.95	3.03|3.03	0.35002|0.35002	.|.	0.140476|.	0.30565|.	N|.	0.009355|.	T|T	0.69342|0.69342	0.3100|0.3100	M|M	0.68952|0.68952	2.095|2.095	0.53688|0.53688	D|D	0.999978|0.999978	D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999|.	D;D;D;D|.	0.87578|.	0.998;0.998;0.998;0.998|.	T|T	0.69632|0.69632	-0.5093|-0.5093	10|5	0.26408|.	T|.	0.33|.	-19.5185|-19.5185	11.9729|11.9729	0.53073|0.53073	0.0877:0.0:0.9122:0.0|0.0877:0.0:0.9122:0.0	.|.	315;315;315;315|.	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5|.	.;.;IFFO1_HUMAN;.|.	M|R	8;8;315;315;315|46	ENSP00000390721:L8M;ENSP00000436261:L8M;ENSP00000337593:L315M;ENSP00000380052:L315M;ENSP00000349364:L315M|.	ENSP00000337593:L315M|.	L|S	-|-	1|3	2|2	IFFO1|IFFO1	6529311|6529311	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	3.425000|3.425000	0.52771|0.52771	2.049000|2.049000	0.60858|0.60858	0.491000|0.491000	0.48974|0.48974	CTG|AGC		0.587	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		9	9	1	0	1.13e-05	1.31e-05	9	9				
SLCO1B1	10599	broad.mit.edu	37	12	21325613	21325613	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:21325613T>C	ENST00000256958.2	+	3	210	c.114T>C	c.(112-114)ttT>ttC	p.F38F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	38					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CACTCAGCTTTATTGCTAAGA	0.368																																						uc001req.3		NA																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(112-114)TTT>TTC		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						189.0	170.0	176.0					12																	21325613		2203	4300	6503	SO:0001819	synonymous_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21325613T>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.114T>C	12.37:g.21325613T>C							p.F38F	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			3	218	+			38			Helical; Name=1; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.114T>C	CCDS8685.1																																																																																				0.368	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		11	58	0	0	0	0	11	58				
METTL20	254013	broad.mit.edu	37	12	31820646	31820646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:31820646C>T	ENST00000357721.3	+	4	726	c.511C>T	c.(511-513)Caa>Taa	p.Q171*	METTL20_ENST00000538391.1_3'UTR|METTL20_ENST00000538463.1_Nonsense_Mutation_p.Q171*|METTL20_ENST00000412352.2_Nonsense_Mutation_p.Q171*|METTL20_ENST00000395763.3_Nonsense_Mutation_p.Q171*	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	171						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			lung(2)|stomach(1)	3						TATTTTAATCCAAAACATTTT	0.328																																						uc009zjr.2		NA																	0					0						c.(511-513)CAA>TAA		hypothetical protein LOC254013							70.0	74.0	73.0					12																	31820646		2203	4300	6503	SO:0001587	stop_gained	254013					cytoplasm	protein methyltransferase activity	g.chr12:31820646C>T	BC039535	CCDS8724.1	12p11.21	2011-03-03	2011-03-03	2011-03-03	ENSG00000139160	ENSG00000139160			28739	protein-coding gene	gene with protein product		615256	"""chromosome 12 open reading frame 72"""	C12orf72			Standard	NM_173802		Approved	DKFZp451L235, MGC50559	uc001rkm.3	Q8IXQ9		ENST00000357721.3:c.511C>T	12.37:g.31820646C>T	ENSP00000350353:p.Gln171*					C12orf72_uc001rkl.2_Nonsense_Mutation_p.Q171*|C12orf72_uc001rkm.2_Nonsense_Mutation_p.Q171*	p.Q171*	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN			4	720	+			171					D3DUW3	Nonsense_Mutation	SNP	ENST00000357721.3	37	c.511C>T	CCDS8724.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838281	0.51057	.	.	ENSG00000139160	ENST00000412352;ENST00000395763;ENST00000538463;ENST00000357721	.	.	.	5.8	-11.6	0.00059	.	0.704963	0.15445	N	0.261974	.	.	.	.	.	.	0.46044	D	0.998833	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-3.9525	16.9637	0.86280	0.123:0.6668:0.2102:0.0	.	.	.	.	X	171	.	ENSP00000350353:Q171X	Q	+	1	0	METTL20	31711913	0.058000	0.20735	0.090000	0.20809	0.567000	0.35839	0.419000	0.21247	-1.869000	0.01141	-1.028000	0.02416	CAA		0.328	METTL20-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402196.1	NM_173802		25	19	0	0	0	0	25	19				
PRICKLE1	144165	broad.mit.edu	37	12	42858530	42858530	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:42858530C>G	ENST00000455697.1	-	7	1591	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.D436H|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.D436H|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.D436H|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.D436H	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	436					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCTCGAATATCCATCTCATTG	0.423																																						uc010skv.1		NA																	0				ovary(3)|skin(1)	4						c.(1306-1308)GAT>CAT		prickle homolog 1							59.0	63.0	62.0					12																	42858530		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42858530C>G	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1306G>C	12.37:g.42858530C>G	ENSP00000401060:p.Asp436His					PRICKLE1_uc001rnl.2_Missense_Mutation_p.D436H|PRICKLE1_uc010skw.1_Missense_Mutation_p.D436H|PRICKLE1_uc001rnm.2_Missense_Mutation_p.D436H	p.D436H	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	7	1593	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		436					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.1306G>C	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615229	0.66672	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.76	5.76	0.90799	.	0.041733	0.85682	D	0.000000	T	0.52869	0.1761	N	0.08118	0	0.48632	D	0.999687	P	0.44478	0.836	P	0.45971	0.499	T	0.60556	-0.7240	10	0.59425	D	0.04	-0.8284	20.3277	0.98707	0.0:1.0:0.0:0.0	.	436	Q96MT3	PRIC1_HUMAN	H	436	ENSP00000401060:D436H;ENSP00000398947:D436H;ENSP00000448359:D436H;ENSP00000345064:D436H;ENSP00000449819:D436H	ENSP00000345064:D436H	D	-	1	0	PRICKLE1	41144797	0.989000	0.36119	0.922000	0.36590	0.992000	0.81027	2.726000	0.47302	2.879000	0.98667	0.650000	0.86243	GAT		0.423	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			25	52	0	0	0	0	25	52				
KMT2D	8085	broad.mit.edu	37	12	49448535	49448535	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:49448535C>T	ENST00000301067.7	-	3	176		c.e3-1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGGACCCCCACTGTGGACACA	0.587																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.e3-1		myeloid/lymphoid or mixed-lineage leukemia 2							27.0	32.0	30.0					12																	49448535		2038	4173	6211	SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49448535C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.177-1G>A	12.37:g.49448535C>T		HNSCC(34;0.089)					p.S59_splice	NM_003482	NP_003473	O14686	MLL2_HUMAN			3	177	-								O14687	Splice_Site	SNP	ENST00000301067.7	37	c.177_splice	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223286	0.58668	.	.	ENSG00000167548	ENST00000301067;ENST00000547610	.	.	.	5.18	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6734	0.34165	0.0:0.8982:0.0:0.1018	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47734802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.478000	0.45189	2.389000	0.81357	0.557000	0.71058	.		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	29	18	0	0	0	0	29	18				
CAND1	55832	broad.mit.edu	37	12	67699816	67699816	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:67699816C>G	ENST00000545606.1	+	10	2805	c.2368C>G	c.(2368-2370)Ctt>Gtt	p.L790V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	790					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAGCACAGCTCTTACTCATAA	0.433																																						uc001stn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2368-2370)CTT>GTT		TIP120 protein							100.0	94.0	96.0					12																	67699816		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67699816C>G		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2368C>G	12.37:g.67699816C>G	ENSP00000442318:p.Leu790Val					CAND1_uc001sto.2_Missense_Mutation_p.L300V	p.L790V	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2805	+			790			HEAT 18.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.2368C>G	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	1.418	-0.573782	0.03882	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.65916	-0.18;-0.18	5.48	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	N	0.14661	0.345	0.80722	D	1	B;B	0.24882	0.113;0.064	B;B	0.26517	0.07;0.019	T	0.29305	-1.0016	9	.	.	.	-12.6191	14.2828	0.66224	0.0:0.9283:0.0:0.0717	.	622;790	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	V	790;790;330	ENSP00000442318:L790V;ENSP00000444089:L330V	.	L	+	1	0	CAND1	65986083	1.000000	0.71417	0.998000	0.56505	0.067000	0.16453	4.024000	0.57218	1.309000	0.44985	-0.145000	0.13849	CTT		0.433	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		50	44	0	0	0	0	50	44				
ACSS3	79611	broad.mit.edu	37	12	81532986	81532986	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:81532986C>T	ENST00000548058.1	+	4	1632	c.722C>T	c.(721-723)gCg>gTg	p.A241V	ACSS3_ENST00000261206.3_Missense_Mutation_p.A240V			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	241						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTAGAAGAAGCGCTAAAAATA	0.353																																						uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(721-723)GCG>GTG		acyl-CoA synthetase short-chain family member 3							130.0	116.0	121.0					12																	81532986		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81532986C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.722C>T	12.37:g.81532986C>T	ENSP00000449535:p.Ala241Val					ACSS3_uc001szm.1_Missense_Mutation_p.A240V	p.A241V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			4	813	+			241					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.722C>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	35	5.437143	0.96168	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.11385	2.78;2.78	5.41	5.41	0.78517	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55023	-0.8205	10	0.87932	D	0	-23.4915	19.5526	0.95328	0.0:1.0:0.0:0.0	.	241	Q9H6R3	ACSS3_HUMAN	V	241;240	ENSP00000449535:A241V;ENSP00000261206:A240V	ENSP00000261206:A240V	A	+	2	0	ACSS3	80057117	1.000000	0.71417	0.962000	0.40283	0.967000	0.64934	7.700000	0.84556	2.701000	0.92244	0.563000	0.77884	GCG		0.353	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		24	13	0	0	0	0	24	13				
SLC41A2	84102	broad.mit.edu	37	12	105238389	105238389	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:105238389T>A	ENST00000258538.3	-	9	1524	c.1397A>T	c.(1396-1398)aAt>aTt	p.N466I		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	466					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						AGCAGACTTATTATTTACTCC	0.254																																					Esophageal Squamous(195;176 2919 4272 35572)	uc001tla.2		NA																	0				ovary(1)|skin(1)	2						c.(1396-1398)AAT>ATT		solute carrier family 41, member 2							49.0	54.0	53.0					12																	105238389		2201	4294	6495	SO:0001583	missense	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105238389T>A	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.1397A>T	12.37:g.105238389T>A	ENSP00000258538:p.Asn466Ile						p.N466I	NM_032148	NP_115524	Q96JW4	S41A2_HUMAN			9	1564	-			466			Extracellular.		Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	37	c.1397A>T	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	T	23.6	4.433752	0.83776	.	.	ENSG00000136052	ENST00000258538	T	0.30981	1.51	5.59	5.59	0.84812	MgtE magnesium transporter, integral membrane (1);	0.048948	0.85682	D	0.000000	T	0.38506	0.1043	L	0.40543	1.245	0.58432	D	0.999999	P	0.47484	0.896	P	0.52267	0.694	T	0.05733	-1.0867	10	0.35671	T	0.21	-0.5562	15.7762	0.78220	0.0:0.0:0.0:1.0	.	466	Q96JW4	S41A2_HUMAN	I	466	ENSP00000258538:N466I	ENSP00000258538:N466I	N	-	2	0	SLC41A2	103762519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.409000	0.80053	2.128000	0.65567	0.533000	0.62120	AAT		0.254	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148		4	58	0	0	0	0	4	58				
PLBD2	196463	broad.mit.edu	37	12	113810606	113810606	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:113810606G>C	ENST00000280800.3	+	3	568	c.537G>C	c.(535-537)tgG>tgC	p.W179C	PLBD2_ENST00000545182.2_Missense_Mutation_p.W179C	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	179					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CACCTTACTGGCACCAGGTGA	0.587																																						uc001tve.2		NA																	0					0						c.(535-537)TGG>TGC		phospholipase B domain containing 2 isoform 1							61.0	64.0	63.0					12																	113810606		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113810606G>C	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.537G>C	12.37:g.113810606G>C	ENSP00000280800:p.Trp179Cys					PLBD2_uc001tvf.2_Missense_Mutation_p.W179C	p.W179C	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN			3	572	+			179					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.537G>C	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872445	0.51695	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.27256	1.68;1.68	5.07	4.15	0.48705	.	0.062973	0.64402	N	0.000002	T	0.62853	0.2462	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75453	-0.3312	10	0.87932	D	0	-14.9561	14.3706	0.66836	0.0:0.0:0.8508:0.1492	.	179;179	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	C	179	ENSP00000443463:W179C;ENSP00000280800:W179C	ENSP00000280800:W179C	W	+	3	0	PLBD2	112294989	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	9.351000	0.97073	1.085000	0.41206	0.462000	0.41574	TGG		0.587	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		36	29	0	0	0	0	36	29				
UBC	7316	broad.mit.edu	37	12	125397972	125397972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:125397972G>A	ENST00000538617.1	-	3	662	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Nonsense_Mutation_p.Q116*|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000536769.1_Nonsense_Mutation_p.Q116*			P0CG48	UBC_HUMAN	ubiquitin C	496	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.G111fs*15(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AACCTCTGCTGGTCAGGAGGA	0.547																																						uc001ugs.3		NA																	1	Deletion - Frameshift(1)		ovary(1)	ovary(2)	2						c.(346-348)CAG>TAG		ubiquitin C							206.0	189.0	194.0					12																	125397972		2203	4300	6503	SO:0001587	stop_gained	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397972G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.346C>T	12.37:g.125397972G>A	ENSP00000443053:p.Gln116*					UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Nonsense_Mutation_p.Q116*|UBC_uc001ugt.2_Nonsense_Mutation_p.Q116*|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_5'UTR	p.Q116*	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	794	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		116			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Nonsense_Mutation	SNP	ENST00000538617.1	37	c.346C>T		.	.	.	.	.	.	.	.	.	.	-	23.7	4.451381	0.84209	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000339647;ENST00000540351;ENST00000541645;ENST00000535131;ENST00000546271;ENST00000540700;ENST00000535859	.	.	.	4.12	4.12	0.48240	.	0.000000	0.56097	U	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.327	0.74172	0.0:0.0:1.0:0.0	.	.	.	.	X	116	.	ENSP00000344818:Q116X	Q	-	1	0	UBC	123963925	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	8.096000	0.89537	2.011000	0.59026	0.650000	0.86243	CAG		0.547	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		41	129	0	0	0	0	41	129				
ATG14	22863	broad.mit.edu	37	14	55878478	55878478	+	Silent	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:55878478C>A	ENST00000247178.5	-	1	98	c.63G>T	c.(61-63)ccG>ccT	p.P21P		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	21					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCCGGGCGAGCGGCCGGGGCC	0.701																																						uc001xbx.1		NA																	0					0						c.(61-63)CCG>CCT		Barkor							8.0	11.0	10.0					14																	55878478		2169	4251	6420	SO:0001819	synonymous_variant	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55878478C>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.63G>T	14.37:g.55878478C>A						FBXO34_uc001xbv.2_Intron	p.P21P	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN			1	99	-			21					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Silent	SNP	ENST00000247178.5	37	c.63G>T	CCDS32087.1																																																																																				0.701	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		7	8	1	0	8.13e-05	9.13e-05	7	8				
ADCK1	57143	broad.mit.edu	37	14	78325478	78325478	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:78325478C>A	ENST00000238561.5	+	4	378	c.279C>A	c.(277-279)ttC>ttA	p.F93L	ADCK1_ENST00000341211.5_Intron	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	100						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GGGGCACCTTCATCAAGGTGG	0.622																																						uc001xui.2		NA																	0				stomach(2)|ovary(1)	3						c.(277-279)TTC>TTA		aarF domain containing kinase 1 isoform a							82.0	81.0	81.0					14																	78325478		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78325478C>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.279C>A	14.37:g.78325478C>A	ENSP00000238561:p.Phe93Leu					ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Intron|ADCK1_uc001xuk.1_5'UTR	p.F93L	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	4	378	+			100					B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.279C>A	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835435	0.91117	.	.	ENSG00000063761	ENST00000238561;ENST00000557501	T;D	0.83992	-0.59;-1.79	5.58	5.58	0.84498	.	0.104370	0.64402	D	0.000003	D	0.89368	0.6695	M	0.80422	2.495	0.80722	D	1	D	0.58970	0.984	P	0.59171	0.853	D	0.90425	0.4420	10	0.87932	D	0	0.062	12.8581	0.57897	0.0:0.9254:0.0:0.0746	.	93	Q86TW2-2	.	L	93	ENSP00000238561:F93L;ENSP00000451549:F93L	ENSP00000238561:F93L	F	+	3	2	ADCK1	77395231	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.197000	0.51028	2.625000	0.88918	0.561000	0.74099	TTC		0.622	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		51	48	1	0	9.52e-25	1.2e-24	51	48				
EML5	161436	broad.mit.edu	37	14	89082514	89082514	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:89082514C>T	ENST00000380664.5	-	41	5844	c.5845G>A	c.(5845-5847)Gtt>Att	p.V1949I	EML5_ENST00000352093.5_Missense_Mutation_p.V1911I|EML5_ENST00000554922.1_Missense_Mutation_p.V1957I			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1949						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCACTAACAACATGTCGATCA	0.418																																						uc001xxg.2		NA																	0				ovary(3)	3						c.(5869-5871)GTT>ATT		echinoderm microtubule associated protein like							155.0	150.0	152.0					14																	89082514		1961	4139	6100	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89082514C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5845G>A	14.37:g.89082514C>T	ENSP00000370039:p.Val1949Ile					EML5_uc001xxf.2_Missense_Mutation_p.V744I|EML5_uc001xxd.2_Missense_Mutation_p.V122I|EML5_uc001xxe.2_Missense_Mutation_p.V306I	p.V1957I	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			43	6055	-			1949			WD 29.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.5869G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001469	0.54254	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.15603	2.41;2.41;2.41	5.49	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.067428	0.64402	D	0.000017	T	0.15435	0.0372	L	0.33137	0.985	0.43403	D	0.995531	B	0.17667	0.023	B	0.26969	0.075	T	0.04678	-1.0934	10	0.26408	T	0.33	-15.2317	14.2157	0.65792	0.0:0.928:0.0:0.072	.	1949	Q05BV3	EMAL5_HUMAN	I	1957;1911;1949	ENSP00000451998:V1957I;ENSP00000298315:V1911I;ENSP00000370039:V1949I	ENSP00000298315:V1911I	V	-	1	0	EML5	88152267	1.000000	0.71417	0.586000	0.28679	0.995000	0.86356	3.810000	0.55613	1.311000	0.45024	0.655000	0.94253	GTT		0.418	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			53	81	0	0	0	0	53	81				
MOAP1	64112	broad.mit.edu	37	14	93649974	93649974	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:93649974C>A	ENST00000556883.1	-	2	1098	c.614G>T	c.(613-615)cGa>cTa	p.R205L	MOAP1_ENST00000298894.4_Missense_Mutation_p.R205L|TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	205	RASSF1-binding.				apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)	p.R205Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ctctagcaatcgccttctctt	0.463																																						uc001ybj.2		NA																	1	Substitution - Missense(1)		endometrium(1)	skin(2)|ovary(1)	3						c.(613-615)CGA>CTA		modulator of apoptosis 1							72.0	81.0	78.0					14																	93649974		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93649974C>A	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.614G>T	14.37:g.93649974C>A	ENSP00000451594:p.Arg205Leu					C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	p.R205L	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	3	984	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	205	KRRR->AAAA: Loss of RASSF1-binding; interacts with BAX in the absence of RASSF1.		RASSF1-binding.		B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.614G>T	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699314	0.48307	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.11277	2.79;2.79	3.57	-1.43	0.08884	.	.	.	.	.	T	0.17152	0.0412	M	0.75085	2.285	0.09310	N	1	P	0.51933	0.949	P	0.50896	0.653	T	0.10965	-1.0607	9	0.62326	D	0.03	0.3466	4.0107	0.09621	0.0:0.3825:0.1814:0.4361	.	205	Q96BY2	MOAP1_HUMAN	L	205	ENSP00000298894:R205L;ENSP00000451594:R205L	ENSP00000298894:R205L	R	-	2	0	MOAP1	92719727	0.116000	0.22171	0.000000	0.03702	0.869000	0.49853	0.255000	0.18333	-0.320000	0.08640	-0.142000	0.14014	CGA		0.463	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			25	72	1	0	3.67e-16	4.5e-16	25	72				
CYP46A1	10858	broad.mit.edu	37	14	100182184	100182184	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:100182184G>A	ENST00000261835.3	+	8	835	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R147Q|CYP46A1_ENST00000554176.1_Missense_Mutation_p.R91Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	244					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CGGGAGGTCCGGGAGAGCATT	0.632																																						uc001ygo.2		NA																	0					0						c.(730-732)CGG>CAG		cytochrome P450, family 46							36.0	40.0	39.0					14																	100182184		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100182184G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.731G>A	14.37:g.100182184G>A	ENSP00000261835:p.Arg244Gln					CYP46A1_uc001ygp.2_Missense_Mutation_p.R91Q	p.R244Q	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			8	731	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	244					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.731G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669819	0.29693	.	.	ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000554176	T;T;T	0.68025	-0.3;-0.3;-0.3	4.37	2.49	0.30216	.	0.173377	0.48767	D	0.000168	T	0.43897	0.1268	N	0.25201	0.72	0.32376	N	0.555155	B;B	0.27853	0.191;0.182	B;B	0.20577	0.025;0.03	T	0.42258	-0.9462	10	0.18276	T	0.48	.	6.5778	0.22577	0.1023:0.1827:0.715:0.0	.	91;244	Q8N2B0;Q9Y6A2	.;CP46A_HUMAN	Q	244;147;91	ENSP00000261835:R244Q;ENSP00000405779:R147Q;ENSP00000450553:R91Q	ENSP00000261835:R244Q	R	+	2	0	CYP46A1	99251937	1.000000	0.71417	0.675000	0.29917	0.992000	0.81027	3.162000	0.50755	0.533000	0.28675	0.561000	0.74099	CGG		0.632	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			26	38	0	0	0	0	26	38				
HERC2	8924	broad.mit.edu	37	15	28413737	28413737	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:28413737C>G	ENST00000261609.7	-	67	10338		c.e67-1			NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AACAGCATCTCTGTCAGGACA	0.647																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.e67-1		hect domain and RLD 2							18.0	19.0	19.0					15																	28413737		2203	4298	6501	SO:0001630	splice_region_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28413737C>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10230-1G>C	15.37:g.28413737C>G							p.R3410_splice	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	67	10336	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)							Splice_Site	SNP	ENST00000261609.7	37	c.10230_splice	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475334	0.43942	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6735	0.95921	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC2	26087332	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	7.776000	0.85560	2.724000	0.93272	0.491000	0.48974	.		0.647	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Intron	12	14	0	0	0	0	12	14				
TRPM1	4308	broad.mit.edu	37	15	31354781	31354781	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:31354781C>G	ENST00000256552.6	-	9	1237		c.e9+1		MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000542188.1_Splice_Site|TRPM1_ENST00000397795.2_Splice_Site	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AAGACACTTACGAGTTCTTTC	0.348																																						uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.e8+1		transient receptor potential cation channel,							131.0	120.0	124.0					15																	31354781		1847	4097	5944	SO:0001630	splice_region_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31354781C>G	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1089+1G>C	15.37:g.31354781C>G						TRPM1_uc010azy.2_Splice_Site_p.L248_splice|TRPM1_uc001zfl.2_Splice_Site	p.L341_splice	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	8	1151	-		all_lung(180;1.92e-11)							Splice_Site	SNP	ENST00000256552.6	37	c.1023_splice	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378616	0.82682	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPM1	29142073	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	.		0.348	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	Intron	4	94	0	0	0	0	4	94				
SLC12A1	6557	broad.mit.edu	37	15	48500015	48500015	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:48500015T>C	ENST00000558405.1	+	1	113	c.99T>C	c.(97-99)agT>agC	p.S33S	SLC12A1_ENST00000330289.6_Silent_p.S33S|SLC12A1_ENST00000561031.1_Silent_p.S33S|SLC12A1_ENST00000380993.3_Silent_p.S33S|SLC12A1_ENST00000396577.3_Silent_p.S33S			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	33					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGAGAGCAGTGCAGCTGCAG	0.428																																						uc001zwn.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(97-99)AGT>AGC		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						74.0	69.0	71.0					15																	48500015		2198	4297	6495	SO:0001819	synonymous_variant	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48500015T>C		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.99T>C	15.37:g.48500015T>C						SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Silent_p.S33S|SLC12A1_uc010uex.1_Silent_p.S33S	p.S33S	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	2	315	+		all_lung(180;0.00219)	33			Cytoplasmic (Potential).		A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	37	c.99T>C	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	T	0.049	-1.256197	0.01457	.	.	ENSG00000074803	ENST00000546071	.	.	.	5.37	-1.0	0.10196	.	.	.	.	.	T	0.38321	0.1036	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	T	0.41734	-0.9492	5	0.72032	D	0.01	.	6.1521	0.20318	0.0:0.2918:0.1264:0.5817	.	.	.	.	A	7	.	ENSP00000441148:V7A	V	+	2	0	SLC12A1	46287307	0.001000	0.12720	0.004000	0.12327	0.050000	0.14768	-0.447000	0.06828	0.020000	0.15106	0.460000	0.39030	GTG		0.428	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			17	22	0	0	0	0	17	22				
DMXL2	23312	broad.mit.edu	37	15	51809332	51809333	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:51809332_51809333GC>AT	ENST00000251076.5	-	14	2755_2756	c.2468_2469GC>AT	c.(2467-2469)aGC>aAT	p.S823N	DMXL2_ENST00000543779.2_Missense_Mutation_p.S823N|DMXL2_ENST00000449909.3_Missense_Mutation_p.S823N	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	823						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TAGACTGTTGGCTCACAATATT	0.337																																						uc002abf.2		NA																	0				ovary(6)|skin(3)	9						c.(2467-2469)AGC>AAT		Dmx-like 2																																				SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51809332_51809333GC>AT	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2468_2469delinsAT	15.37:g.51809332_51809333delinsAT	ENSP00000251076:p.Ser823Asn					DMXL2_uc010ufy.1_Missense_Mutation_p.S823N|DMXL2_uc010bfa.2_Missense_Mutation_p.S823N	p.S823N	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	14	2693_2694	-			823					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	DNP	ENST00000251076.5	37	c.2468_2469GC>AT	CCDS10141.1																																																																																				0.337	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		6	136	0	0	0	0	6	136				
UNC13C	440279	broad.mit.edu	37	15	54305278	54305278	+	Nonsense_Mutation	SNP	A	A	T	rs182909695		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:54305278A>T	ENST00000260323.11	+	1	178	c.178A>T	c.(178-180)Aaa>Taa	p.K60*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.K60*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.K60*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	60					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTACACTTTTAAAAGCACTGT	0.418																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(178-180)AAA>TAA		unc-13 homolog C							85.0	88.0	87.0					15																	54305278		1835	4069	5904	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305278A>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.178A>T	15.37:g.54305278A>T	ENSP00000260323:p.Lys60*						p.K60*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	178	+			60					Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.178A>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.729330	0.89390	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.92	0.63926	1.0:0.0:0.0:0.0	.	.	.	.	X	60	.	ENSP00000260323:K60X	K	+	1	0	UNC13C	52092570	1.000000	0.71417	0.988000	0.46212	0.154000	0.21943	9.335000	0.96500	1.876000	0.54355	0.533000	0.62120	AAA		0.418	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		37	51	0	0	0	0	37	51				
RFX7	64864	broad.mit.edu	37	15	56386608	56386608	+	Silent	SNP	A	A	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:56386608A>C	ENST00000559447.2	-	9	3298	c.3027T>G	c.(3025-3027)tcT>tcG	p.S1009S	RFX7_ENST00000317318.6_Silent_p.S1106S|RFX7_ENST00000423270.1_Silent_p.S1106S|RFX7_ENST00000422057.1_Silent_p.S1009S			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1009					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAGACTGATAAGACTGTCCAG	0.448																																						uc010bfn.2		NA																	0					0						c.(3316-3318)TCT>TCG		regulatory factor X domain containing 2							122.0	116.0	118.0					15																	56386608		2012	4175	6187	SO:0001819	synonymous_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56386608A>C			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3027T>G	15.37:g.56386608A>C						RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.S920S	p.S1106S	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			9	3318	-			1009					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37	c.3318T>G																																																																																					0.448	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		35	88	0	0	0	0	35	88				
LARP6	55323	broad.mit.edu	37	15	71125421	71125421	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:71125421G>T	ENST00000299213.8	-	3	516	c.446C>A	c.(445-447)gCa>gAa	p.A149E	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	149	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CAAAGCATGTGCTGTGGTTCT	0.483																																						uc002ass.2		NA																	0					0						c.(445-447)GCA>GAA		La ribonucleoprotein domain family, member 6							78.0	83.0	81.0					15																	71125421		2199	4297	6496	SO:0001583	missense	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71125421G>T	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.446C>A	15.37:g.71125421G>T	ENSP00000299213:p.Ala149Glu						p.A149E	NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN			3	517	-			149			HTH La-type RNA-binding.		Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	ENST00000299213.8	37	c.446C>A	CCDS32281.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150964	0.78001	.	.	ENSG00000166173	ENST00000299213	T	0.50813	0.73	5.7	4.78	0.61160	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.052730	0.85682	D	0.000000	T	0.63200	0.2491	M	0.81239	2.535	0.80722	D	1	D	0.57899	0.981	P	0.60068	0.868	T	0.60586	-0.7234	10	0.26408	T	0.33	-15.4583	11.7083	0.51610	0.0848:0.0:0.9152:0.0	.	149	Q9BRS8	LARP6_HUMAN	E	149	ENSP00000299213:A149E	ENSP00000299213:A149E	A	-	2	0	LARP6	68912475	1.000000	0.71417	0.568000	0.28447	0.974000	0.67602	7.263000	0.78421	2.694000	0.91930	0.555000	0.69702	GCA		0.483	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		36	65	1	0	2.76e-19	3.44e-19	36	65				
SCNN1B	6338	broad.mit.edu	37	16	23382771	23382771	+	Silent	SNP	C	C	T	rs148438164	byFrequency	TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:23382771C>T	ENST00000343070.2	+	6	1208	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	SCNN1B_ENST00000568085.1_Silent_p.I344I|SCNN1B_ENST00000568923.1_Silent_p.I317I|SCNN1B_ENST00000307331.5_Silent_p.I389I	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	344					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGACGTCCATCGGGGTACTCG	0.642																																						uc002dln.2		NA																	0				ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7						c.(1030-1032)ATC>ATT		sodium channel, nonvoltage-gated 1, beta	Amiloride(DB00594)|Triamterene(DB00384)	C		0,4394		0,0,2197	60.0	51.0	54.0		1032	1.7	1.0	16	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SCNN1B	NM_000336.2		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		344/641	23382771	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23382771C>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1032C>T	16.37:g.23382771C>T							p.I344I	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	6	1208	+			344			Extracellular (By similarity).		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.1032C>T	CCDS10609.1																																																																																				0.642	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			9	23	0	0	0	0	9	23				
ARHGAP17	55114	broad.mit.edu	37	16	24990293	24990293	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:24990293T>C	ENST00000289968.6	-	2	156	c.87A>G	c.(85-87)ctA>ctG	p.L29L	ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Silent_p.L29L|ARHGAP17_ENST00000441763.2_Silent_p.L29L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	29	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTACCTGTAATAGATCTTCAC	0.303																																						uc002dnb.2		NA																	0					0						c.(85-87)CTA>CTG		nadrin isoform 1							25.0	26.0	26.0					16																	24990293		2196	4289	6485	SO:0001819	synonymous_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24990293T>C	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.87A>G	16.37:g.24990293T>C						ARHGAP17_uc002dnc.2_Silent_p.L29L|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dng.1_Silent_p.L29L	p.L29L	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	2	180	-			29			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	c.87A>G	CCDS32409.1																																																																																				0.303	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		12	19	0	0	0	0	12	19				
ZNF629	23361	broad.mit.edu	37	16	30793689	30793689	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:30793689G>A	ENST00000262525.4	-	3	2167	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	654					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCAGCCCCCGCCTCTGGCTG	0.657																																						uc002dzs.1		NA																	0					0						c.(1960-1962)CGG>TGG		zinc finger protein 629							12.0	14.0	13.0					16																	30793689		1964	4143	6107	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793689G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1960C>T	16.37:g.30793689G>A	ENSP00000262525:p.Arg654Trp						p.R654W	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2168	-			654					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.1960C>T	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234530	0.22626	.	.	ENSG00000102870	ENST00000262525	T	0.09538	2.97	5.35	4.19	0.49359	.	0.654425	0.11561	N	0.551683	T	0.06188	0.0160	N	0.08118	0	0.22933	N	0.998544	P	0.49635	0.926	B	0.36504	0.226	T	0.29822	-0.9999	10	0.87932	D	0	-0.9841	13.8443	0.63457	0.0892:0.0:0.9108:0.0	.	654	Q9UEG4	ZN629_HUMAN	W	654	ENSP00000262525:R654W	ENSP00000262525:R654W	R	-	1	2	ZNF629	30701190	0.028000	0.19301	0.997000	0.53966	0.623000	0.37688	0.645000	0.24782	2.503000	0.84419	0.561000	0.74099	CGG		0.657	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		3	7	0	0	0	0	3	7				
PLLP	51090	broad.mit.edu	37	16	57290897	57290897	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:57290897G>A	ENST00000219207.5	-	4	623	c.477C>T	c.(475-477)ttC>ttT	p.F159F	PLLP_ENST00000569059.1_Silent_p.F101F	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	159	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				ion transport (GO:0006811)|myelination (GO:0042552)|response to wounding (GO:0009611)	compact myelin (GO:0043218)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)				endometrium(1)|prostate(1)	2						GGTAGCTGAAGAAGGCACTCA	0.582																																						uc002elg.1		NA																	0					0						c.(475-477)TTC>TTT		plasmolipin							109.0	92.0	97.0					16																	57290897		2198	4300	6498	SO:0001819	synonymous_variant	51090					integral to membrane	ion channel activity	g.chr16:57290897G>A	AF137386	CCDS10777.1	16q13	2010-06-24	2010-06-24	2005-03-21	ENSG00000102934	ENSG00000102934			18553	protein-coding gene	gene with protein product	"""plasma membrane proteolipid"""	600340	"""transmembrane 4 superfamily member 11 (plasmolipin)"", ""plasma membrane proteolipid (plasmolipin)"""	TM4SF11		11707781	Standard	NM_015993		Approved	PMLP	uc002elg.2	Q9Y342	OTTHUMG00000133465	ENST00000219207.5:c.477C>T	16.37:g.57290897G>A							p.F159F	NM_015993	NP_057077	Q9Y342	PLLP_HUMAN			4	605	-			159			Helical; (Potential).|MARVEL.		B2R9T6	Silent	SNP	ENST00000219207.5	37	c.477C>T	CCDS10777.1																																																																																				0.582	PLLP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257341.2			36	32	0	0	0	0	36	32				
DOK4	55715	broad.mit.edu	37	16	57509863	57509863	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:57509863G>A	ENST00000340099.4	-	3	444	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000566936.1_Missense_Mutation_p.R25W|DOK4_ENST00000569548.1_Missense_Mutation_p.R25W	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	25	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.R25G(1)		kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CAGCACCTCCGGTAGATCTGT	0.667																																						uc010cdb.2		NA																	1	Substitution - Missense(1)		kidney(1)	skin(1)	1						c.(73-75)CGG>TGG		docking protein 4							30.0	33.0	32.0					16																	57509863		2198	4300	6498	SO:0001583	missense	55715						insulin receptor binding	g.chr16:57509863G>A	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.73C>T	16.37:g.57509863G>A	ENSP00000344277:p.Arg25Trp					DOK4_uc002elu.1_Missense_Mutation_p.R25W|DOK4_uc002elv.3_Missense_Mutation_p.R25W	p.R25W	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN			2	371	-			25			PH.		O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	ENST00000340099.4	37	c.73C>T	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177985	0.78564	.	.	ENSG00000125170	ENST00000340099	T	0.76578	-1.03	5.29	4.32	0.51571	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.075607	0.51477	D	0.000088	D	0.83936	0.5362	L	0.53249	1.67	0.52501	D	0.999952	D;D	0.76494	0.998;0.999	D;D	0.70227	0.968;0.924	D	0.85347	0.1099	10	0.87932	D	0	-36.3389	12.4143	0.55483	0.0:0.0:0.8117:0.1883	.	25;25	Q8TEW6;B2RD67	DOK4_HUMAN;.	W	25	ENSP00000344277:R25W	ENSP00000344277:R25W	R	-	1	2	DOK4	56067364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.366000	0.59492	1.398000	0.46701	0.650000	0.86243	CGG		0.667	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			10	10	0	0	0	0	10	10				
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:7578403C>G	ENST00000269305.4	-	5	716	c.527G>C	c.(526-528)tGc>tCc	p.C176S	TP53_ENST00000455263.2_Missense_Mutation_p.C176S|TP53_ENST00000445888.2_Missense_Mutation_p.C176S|TP53_ENST00000359597.4_Missense_Mutation_p.C176S|TP53_ENST00000420246.2_Missense_Mutation_p.C176S|TP53_ENST00000413465.2_Missense_Mutation_p.C176S|TP53_ENST00000574684.1_5'UTR	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	176	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). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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)	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		267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(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.(526-528)TGC>TCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	49.0	49.0					17																	7578403		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|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.chr17:7578403C>G	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.527G>C	17.37:g.7578403C>G	ENSP00000269305:p.Cys176Ser	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.C176S|TP53_uc002gih.2_Missense_Mutation_p.C176S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44S|TP53_uc010cng.1_Missense_Mutation_p.C44S|TP53_uc002gii.1_Missense_Mutation_p.C44S|TP53_uc010cnh.1_Missense_Mutation_p.C176S|TP53_uc010cni.1_Missense_Mutation_p.C176S|TP53_uc002gij.2_Missense_Mutation_p.C176S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83S|TP53_uc002gio.2_Missense_Mutation_p.C44S|TP53_uc010vug.1_Missense_Mutation_p.C137S	p.C176S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	721	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (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).	Zinc.	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.527G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616249	0.87359	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	P;P;P;P;P;P;P	0.49253	0.869;0.654;0.767;0.866;0.921;0.703;0.81	D;P;P;D;P;P;P	0.67103	0.949;0.536;0.6;0.933;0.699;0.594;0.813	D	0.94808	0.7976	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176S;ENSP00000352610:C176S;ENSP00000269305:C176S;ENSP00000398846:C176S;ENSP00000391127:C176S;ENSP00000391478:C176S;ENSP00000425104:C44S;ENSP00000423862:C83S	ENSP00000269305:C176S	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	8	0	0	0	0	26	8				
PFAS	5198	broad.mit.edu	37	17	8172074	8172074	+	Silent	SNP	C	C	T	rs150119860		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:8172074C>T	ENST00000314666.6	+	27	3739	c.3606C>T	c.(3604-3606)taC>taT	p.Y1202Y	PFAS_ENST00000545834.1_Silent_p.Y778Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1202	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CTGGGCGCTACGAGTCTCGCT	0.701																																						uc002gkr.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(3604-3606)TAC>TAT		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	C		0,4402		0,0,2201	35.0	38.0	37.0		3606	-4.0	0.0	17	dbSNP_134	37	2,8594		0,2,4296	no	coding-synonymous	PFAS	NM_012393.2		0,2,6497	TT,TC,CC		0.0233,0.0,0.0154		1202/1339	8172074	2,12996	2201	4298	6499	SO:0001819	synonymous_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8172074C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3606C>T	17.37:g.8172074C>T						PFAS_uc010vuv.1_Silent_p.Y778Y|PFAS_uc002gks.2_Silent_p.Y281Y	p.Y1202Y	NM_012393	NP_036525	O15067	PUR4_HUMAN			27	3747	+			1202			Glutamine amidotransferase type-1.		A6H8V8	Silent	SNP	ENST00000314666.6	37	c.3606C>T	CCDS11136.1																																																																																				0.701	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			38	5	0	0	0	0	38	5				
ERBB2	2064	broad.mit.edu	37	17	37871770	37871770	+	Missense_Mutation	SNP	C	C	T	rs367606199		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:37871770C>T	ENST00000269571.5	+	11	1453	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	ERBB2_ENST00000540147.1_Missense_Mutation_p.R402W|ERBB2_ENST00000406381.2_Missense_Mutation_p.R402W|ERBB2_ENST00000584601.1_Missense_Mutation_p.R402W|ERBB2_ENST00000578199.1_Missense_Mutation_p.R402W|ERBB2_ENST00000445658.2_Missense_Mutation_p.R156W|ERBB2_ENST00000541774.1_Missense_Mutation_p.R417W|ERBB2_ENST00000584450.1_Missense_Mutation_p.R432W|ERBB2_ENST00000540042.1_Missense_Mutation_p.R402W			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	432					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GCAAGTAATCCGGGGACGAAT	0.572		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(1294-1296)CGG>TGG		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	72.0	73.0		1204,1294	4.8	1.0	17		73	0,8600		0,0,4300	no	missense,missense	ERBB2	NM_001005862.1,NM_004448.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	402/1226,432/1256	37871770	1,13005	2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37871770C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1294C>T	17.37:g.37871770C>T	ENSP00000269571:p.Arg432Trp	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.R402W|ERBB2_uc010cwa.2_Missense_Mutation_p.R417W|ERBB2_uc002hsp.2_Missense_Mutation_p.R235W|ERBB2_uc010cwb.2_Missense_Mutation_p.R432W|ERBB2_uc010wek.1_Missense_Mutation_p.R156W|ERBB2_uc002hsl.2_Missense_Mutation_p.R402W	p.R432W	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	11	1532	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	432			Extracellular (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.1294C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.751155	0.31046	2.27E-4	0.0	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.89	4.85	0.62838	EGF receptor, L domain (1);	.	.	.	.	D	0.92427	0.7596	H	0.94582	3.555	0.53005	D	0.99996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93896	0.7184	9	0.66056	D	0.02	.	16.7816	0.85564	0.1374:0.8625:0.0:0.0	.	156;402;417;432	B4DTR1;F5H1T4;P04626-4;P04626	.;.;.;ERBB2_HUMAN	W	402;417;156;432;402;402	ENSP00000385185:R402W;ENSP00000446466:R417W;ENSP00000404047:R156W;ENSP00000269571:R432W;ENSP00000443562:R402W;ENSP00000446382:R402W	ENSP00000269571:R432W	R	+	1	2	ERBB2	35125296	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.913000	0.39956	2.793000	0.96121	0.561000	0.74099	CGG		0.572	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			8	846	0	0	0	0	8	846				
KRT33A	3883	broad.mit.edu	37	17	39504890	39504890	+	Splice_Site	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:39504890A>G	ENST00000007735.3	-	3	477	c.433T>C	c.(433-435)Tat>Cat	p.Y145H		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	145	Coil 1B.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TCGGTCTCATATCTGTGATCA	0.572																																						uc002hwk.1		NA																	0					0						c.(433-435)TAT>CAT		keratin 33A							63.0	60.0	61.0					17																	39504890		2203	4300	6503	SO:0001630	splice_region_variant	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39504890A>G	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.432-1T>C	17.37:g.39504890A>G							p.Y145H	NM_004138	NP_004129	O76009	KT33A_HUMAN			3	470	-		Breast(137;0.000496)	145			Rod.|Coil 1B.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.433T>C	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.343188	0.61073	.	.	ENSG00000006059	ENST00000007735	D	0.90133	-2.62	5.26	5.26	0.73747	Filament (1);	0.105204	0.43110	D	0.000613	D	0.94614	0.8264	M	0.81942	2.565	0.35918	D	0.831629	D	0.89917	1.0	D	0.87578	0.998	D	0.96414	0.9306	10	0.54805	T	0.06	.	10.5517	0.45092	0.9226:0.0:0.0773:0.0	.	145	O76009	KT33A_HUMAN	H	145	ENSP00000007735:Y145H	ENSP00000007735:Y145H	Y	-	1	0	KRT33A	36758416	1.000000	0.71417	0.993000	0.49108	0.490000	0.33462	9.076000	0.94009	2.207000	0.71202	0.533000	0.62120	TAT		0.572	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138	Missense_Mutation	158	42	0	0	0	0	158	42				
EME1	146956	broad.mit.edu	37	17	48453432	48453432	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:48453432T>G	ENST00000338165.4	+	3	863	c.781T>G	c.(781-783)Tta>Gta	p.L261V	MRPL27_ENST00000225969.4_5'Flank|MRPL27_ENST00000503633.1_5'Flank|MRPL27_ENST00000442592.3_5'Flank|EME1_ENST00000511648.2_Missense_Mutation_p.L261V|EME1_ENST00000393271.2_Missense_Mutation_p.L261V	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	261					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGCAGTGCTCTTACAGATGGA	0.567								Direct reversal of damage;Homologous recombination																														uc002iqs.1		NA																	0					0						c.(781-783)TTA>GTA	Direct_reversal_of_damage|Homologous_recombination	essential meiotic endonuclease 1 homolog 1							84.0	71.0	75.0					17																	48453432		2203	4300	6503	SO:0001583	missense	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48453432T>G	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.781T>G	17.37:g.48453432T>G	ENSP00000339897:p.Leu261Val					MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Missense_Mutation_p.L261V	p.L261V	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		3	854	+	Breast(11;5.62e-19)		261					Q96N62	Missense_Mutation	SNP	ENST00000338165.4	37	c.781T>G	CCDS11565.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.24|18.24	3.579141|3.579141	0.65878|0.65878	.|.	.|.	ENSG00000154920|ENSG00000154920	ENST00000510246|ENST00000338165;ENST00000393271;ENST00000511519;ENST00000511648	T|T;T;T;T	0.23348|0.50813	1.91|1.85;1.85;0.73;1.85	5.25|5.25	2.99|2.99	0.34606|0.34606	.|ERCC4 domain (2);	0.000000|0.000000	0.64402|0.64402	D|D	0.000016|0.000016	T|T	0.67202|0.67202	0.2868|0.2868	M|M	0.85041|0.85041	2.73|2.73	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.997;1.0	T|T	0.66256|0.66256	-0.5969|-0.5969	8|10	0.54805|0.87932	T|D	0.06|0	-21.4047|-21.4047	7.4415|7.4415	0.27185|0.27185	0.0:0.2551:0.0:0.7449|0.0:0.2551:0.0:0.7449	.|.	.|261;261	.|Q96AY2-2;Q96AY2	.|.;EME1_HUMAN	R|V	101|261;261;104;261	ENSP00000425567:L101R|ENSP00000339897:L261V;ENSP00000376952:L261V;ENSP00000423029:L104V;ENSP00000421700:L261V	ENSP00000425567:L101R|ENSP00000339897:L261V	L|L	+|+	2|1	0|2	EME1|EME1	45808431|45808431	0.925000|0.925000	0.31364|0.31364	0.978000|0.978000	0.43139|0.43139	0.994000|0.994000	0.84299|0.84299	1.427000|1.427000	0.34881|0.34881	0.316000|0.316000	0.23135|0.23135	0.528000|0.528000	0.53228|0.53228	CTT|TTA		0.567	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		5	73	0	0	0	0	5	73				
SPAG9	9043	broad.mit.edu	37	17	49074037	49074037	+	Silent	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:49074037G>T	ENST00000262013.7	-	16	2065	c.1857C>A	c.(1855-1857)gcC>gcA	p.A619A	SPAG9_ENST00000357122.4_Silent_p.A605A|SPAG9_ENST00000505279.1_Silent_p.A609A|SPAG9_ENST00000510283.1_Silent_p.A462A	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	619					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCTGCGTGAGGCTAAACTAG	0.408																																						uc002itc.2		NA																	0				lung(4)|breast(1)	5						c.(1855-1857)GCC>GCA		sperm associated antigen 9 isoform 1							140.0	123.0	129.0					17																	49074037		2203	4300	6503	SO:0001819	synonymous_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49074037G>T	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1857C>A	17.37:g.49074037G>T						SPAG9_uc002itb.2_Silent_p.A605A|SPAG9_uc002itd.2_Silent_p.A609A|SPAG9_uc002itf.2_Silent_p.A440A|SPAG9_uc002ita.2_Silent_p.A462A|SPAG9_uc002ite.2_Silent_p.A449A	p.A619A	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		16	2066	-			619					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	ENST00000262013.7	37	c.1857C>A	CCDS45740.1																																																																																				0.408	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		18	29	1	0	4.63e-17	5.71e-17	18	29				
STXBP4	252983	broad.mit.edu	37	17	53111543	53111543	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:53111543G>A	ENST00000376352.2	+	10	985	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	STXBP4_ENST00000434978.2_Missense_Mutation_p.A260T|STXBP4_ENST00000299341.4_Missense_Mutation_p.A185T|STXBP4_ENST00000398391.2_Missense_Mutation_p.A185T|STXBP4_ENST00000405898.1_Missense_Mutation_p.A260T	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	260					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TGTCCAGGTTGCCAGAAACTT	0.338																																						uc002iuf.1		NA																	0				ovary(1)	1						c.(778-780)GCC>ACC		syntaxin binding protein 4							184.0	184.0	184.0					17																	53111543		2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53111543G>A	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.778G>A	17.37:g.53111543G>A	ENSP00000365530:p.Ala260Thr					STXBP4_uc010dcc.1_Missense_Mutation_p.A185T|STXBP4_uc010dcd.1_Missense_Mutation_p.A260T	p.A260T	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN			10	985	+			260					Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.778G>A	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589014	0.66105	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.61	4.57	0.56435	EF-hand-like domain (1);	0.237508	0.42964	D	0.000627	T	0.45115	0.1326	L	0.50333	1.59	0.33400	D	0.577206	P;D;P	0.65815	0.926;0.995;0.5	P;D;B	0.63113	0.608;0.911;0.09	T	0.56323	-0.7998	10	0.54805	T	0.06	-7.9536	12.4862	0.55874	0.0:0.0:0.8221:0.1779	.	260;185;260	E7EPP7;Q6ZWJ1-2;Q6ZWJ1	.;.;STXB4_HUMAN	T	260;185;260;260;185	ENSP00000365530:A260T;ENSP00000299341:A185T;ENSP00000385944:A260T;ENSP00000391087:A260T;ENSP00000381427:A185T	ENSP00000299341:A185T	A	+	1	0	STXBP4	50466542	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.303000	0.43646	2.627000	0.88993	0.561000	0.74099	GCC		0.338	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		38	52	0	0	0	0	38	52				
BCAS3	54828	broad.mit.edu	37	17	58967054	58967054	+	Splice_Site	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:58967054A>G	ENST00000390652.5	+	10	692		c.e10-1		BCAS3_ENST00000588874.1_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000589222.1_Splice_Site	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GAAATTTTTCAGGCTGCTATC	0.398																																						uc002iyv.3		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.e10-2		breast carcinoma amplified sequence 3 isoform 1							89.0	88.0	88.0					17																	58967054		1822	4083	5905	SO:0001630	splice_region_variant	54828					nucleus		g.chr17:58967054A>G	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.662-1A>G	17.37:g.58967054A>G						BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Splice_Site_p.S221_splice|BCAS3_uc002iyw.3_Splice_Site_p.S217_splice|BCAS3_uc002iyx.1_Splice_Site_p.G36_splice|BCAS3_uc002iyy.3_Splice_Site	p.S221_splice	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		10	771	+									Splice_Site	SNP	ENST00000390652.5	37	c.662_splice	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072118	0.76415	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000405217	.	.	.	5.99	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4067	0.60917	0.8687:0.1312:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCAS3	56321836	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.781000	0.85668	1.062000	0.40625	0.533000	0.62120	.		0.398	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679	Intron	3	118	0	0	0	0	3	118				
BIRC5	332	broad.mit.edu	37	17	76212844	76212844	+	Silent	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:76212844A>G	ENST00000350051.3	+	3	440	c.321A>G	c.(319-321)gaA>gaG	p.E107E	BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000589892.1_3'UTR|AC087645.1_ENST00000600484.1_Silent_p.L251L|BIRC5_ENST00000301633.4_Silent_p.E130E|BIRC5_ENST00000592734.1_Intron	NM_001168.2	NP_001159.2	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	107					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			TGGACAGAGAAAGAGCCAAGA	0.403																																						uc002jvg.2		NA																	0				kidney(1)	1						c.(319-321)GAA>GAG		baculoviral IAP repeat-containing protein 5							64.0	69.0	68.0					17																	76212844		2203	4300	6503	SO:0001819	synonymous_variant	332				anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding	g.chr17:76212844A>G	U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685		"""Baculoviral IAP repeat containing"""	593	protein-coding gene	gene with protein product	"""survivin variant 3 alpha"""	603352	"""apoptosis inhibitor 4"", ""baculoviral IAP repeat-containing 5"""	API4		8106347, 7947793	Standard	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	O15392		ENST00000350051.3:c.321A>G	17.37:g.76212844A>G						BIRC5_uc002jve.1_Intron|BIRC5_uc002jvd.1_Silent_p.E130E|BIRC5_uc010dhk.1_RNA|BIRC5_uc010dhl.1_Silent_p.E155E|BIRC5_uc002jvf.2_Silent_p.E130E|BIRC5_uc002jvh.2_Intron|BIRC5_uc002jvi.2_RNA|EPR1_uc002jvj.1_RNA	p.E107E	NM_001168	NP_001159	O15392	BIRC5_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)		3	442	+			107					A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Silent	SNP	ENST00000350051.3	37	c.321A>G	CCDS11755.1																																																																																				0.403	BIRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437231.2	NM_001168		30	53	0	0	0	0	30	53				
RNMT	8731	broad.mit.edu	37	18	13737130	13737130	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:13737130T>A	ENST00000383314.2	+	5	915	c.675T>A	c.(673-675)tgT>tgA	p.C225*	RNMT_ENST00000589866.1_Nonsense_Mutation_p.C225*|RNMT_ENST00000262173.3_Nonsense_Mutation_p.C225*|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000543302.2_Nonsense_Mutation_p.C225*|RNMT_ENST00000592764.1_Nonsense_Mutation_p.C225*			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	225	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AGCTAGTTTGTACTGGTAAGA	0.343																																					GBM(29;474 594 19092 36647 41529)	uc002ksk.1		NA																	0					0						c.(673-675)TGT>TGA		RNA (guanine-7-) methyltransferase							102.0	105.0	104.0					18																	13737130		2203	4300	6503	SO:0001587	stop_gained	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13737130T>A	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.675T>A	18.37:g.13737130T>A	ENSP00000372804:p.Cys225*					RNMT_uc002ksl.1_Nonsense_Mutation_p.C225*|RNMT_uc002ksm.1_Nonsense_Mutation_p.C225*|RNMT_uc010dlk.2_Nonsense_Mutation_p.C225*|RNMT_uc010xae.1_RNA	p.C225*	NM_003799	NP_003790	O43148	MCES_HUMAN			4	742	+			225					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Nonsense_Mutation	SNP	ENST00000383314.2	37	c.675T>A	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	T	39	7.504023	0.98325	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000544744;ENST00000262173	.	.	.	5.53	3.07	0.35406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-24.3979	9.2797	0.37720	0.0:0.2089:0.0:0.7911	.	.	.	.	X	225;225;47;225	.	ENSP00000262173:C225X	C	+	3	2	RNMT	13727130	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	2.434000	0.44802	0.351000	0.24027	-0.386000	0.06593	TGT		0.343	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		17	15	0	0	0	0	17	15				
PARD6G	84552	broad.mit.edu	37	18	77917976	77917976	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:77917976G>A	ENST00000353265.3	-	3	1006	c.809C>T	c.(808-810)tCg>tTg	p.S270L	AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	270					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GGTGCCGTCCGAGGGCGGTCC	0.701																																						uc002lny.2		NA																	0					0						c.(808-810)TCG>TTG		PAR-6 gamma protein							33.0	29.0	30.0					18																	77917976		2198	4296	6494	SO:0001583	missense	84552				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding	g.chr18:77917976G>A		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.809C>T	18.37:g.77917976G>A	ENSP00000343144:p.Ser270Leu					LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	p.S270L	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	3	975	-		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)	270					A8QM57	Missense_Mutation	SNP	ENST00000353265.3	37	c.809C>T	CCDS12022.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211938	0.39102	.	.	ENSG00000178184	ENST00000353265	T	0.12879	2.64	4.82	3.95	0.45737	.	0.247105	0.39759	N	0.001272	T	0.15219	0.0367	M	0.61703	1.905	0.80722	D	1	B	0.15473	0.013	B	0.09377	0.004	T	0.03641	-1.1017	9	.	.	.	-7.6146	12.0614	0.53564	0.0854:0.0:0.9146:0.0	.	270	Q9BYG4	PAR6G_HUMAN	L	270	ENSP00000343144:S270L	.	S	-	2	0	PARD6G	76018967	1.000000	0.71417	0.403000	0.26384	0.003000	0.03518	8.078000	0.89507	1.258000	0.44101	-0.251000	0.11542	TCG		0.701	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510		5	5	0	0	0	0	5	5				
CACNA1A	773	broad.mit.edu	37	19	13411468	13411468	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:13411468G>A	ENST00000360228.5	-	18	2174	c.2175C>T	c.(2173-2175)gaC>gaT	p.D725D	CACNA1A_ENST00000573710.2_Silent_p.D726D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	726				K -> KVEA (in Ref. 1; AAB61613/AAB61612). {ECO:0000305}.	adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCTTGCTCGTCCTAAAAGG	0.493																																						uc010dze.2		NA																	0				large_intestine(2)	2						c.(2176-2178)GAC>GAT		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						175.0	174.0	175.0					19																	13411468		1965	4162	6127	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13411468G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2175C>T	19.37:g.13411468G>A						CACNA1A_uc010dzc.2_Silent_p.D251D|CACNA1A_uc002mwy.3_Silent_p.D725D|CACNA1A_uc010xne.1_Silent_p.D254D	p.D726D	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		18	2414	-			726			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.2178C>T	CCDS45998.1																																																																																				0.493	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		5	65	0	0	0	0	5	65				
MVB12A	93343	broad.mit.edu	37	19	17535470	17535470	+	Missense_Mutation	SNP	C	C	T	rs143800574		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:17535470C>T	ENST00000317040.7	+	8	1798	c.743C>T	c.(742-744)gCg>gTg	p.A248V	MVB12A_ENST00000529939.1_Intron|MVB12A_ENST00000543795.1_Missense_Mutation_p.A248V|MVB12A_ENST00000392702.2_Missense_Mutation_p.A208V|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000528515.1_3'UTR			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	248	Interaction with TSG101, VPS37B and VPS28.|UMA. {ECO:0000255|PROSITE- ProRule:PRU00830}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)										AAGTCTCTGGCGGACATTGAG	0.662																																						uc002ngo.1		NA																	0					0						c.(742-744)GCG>GTG		family with sequence similarity 125, member A		C	VAL/ALA	1,4405		0,1,2202	44.0	39.0	41.0		743	4.5	1.0	19	dbSNP_134	41	3,8597		0,3,4297	yes	missense	FAM125A	NM_138401.2	64	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	possibly-damaging	248/274	17535470	4,13002	2203	4300	6503	SO:0001583	missense	93343				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding	g.chr19:17535470C>T	BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"""family with sequence similarity 125, member A"""	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.743C>T	19.37:g.17535470C>T	ENSP00000324810:p.Ala248Val					FAM125A_uc002ngp.1_Missense_Mutation_p.A156V|FAM125A_uc002ngq.1_Missense_Mutation_p.A144V	p.A248V	NM_138401	NP_612410	Q96EY5	F125A_HUMAN			8	776	+			248			UMA.|Interaction with TSG101, VPS37B and VPS28.		Q96I18	Missense_Mutation	SNP	ENST00000317040.7	37	c.743C>T	CCDS12359.1	.	.	.	.	.	.	.	.	.	.	.	25.9	4.684280	0.88639	2.27E-4	3.49E-4	ENSG00000141971	ENST00000528604;ENST00000317040;ENST00000392702;ENST00000543795	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.52	4.52	0.55395	UMA domain (1);	0.296506	0.33457	N	0.004895	T	0.62804	0.2458	M	0.61703	1.905	0.37712	D	0.924598	D	0.76494	0.999	D	0.67725	0.953	T	0.69480	-0.5134	10	0.56958	D	0.05	-9.8165	12.7983	0.57571	0.0:1.0:0.0:0.0	.	248	Q96EY5	F125A_HUMAN	V	109;248;208;248	ENSP00000435052:A109V;ENSP00000324810:A248V;ENSP00000376466:A208V;ENSP00000444653:A248V	ENSP00000324810:A248V	A	+	2	0	FAM125A	17396470	0.981000	0.34729	0.999000	0.59377	0.938000	0.57974	2.674000	0.46867	2.091000	0.63221	0.558000	0.71614	GCG		0.662	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2	NM_138401		7	0	0	0	0	0	7	0				
ZNF536	9745	broad.mit.edu	37	19	30936464	30936464	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:30936464C>T	ENST00000355537.3	+	2	2142	c.1995C>T	c.(1993-1995)caC>caT	p.H665H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	665					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGGGCTGCACGTGGGCCTGG	0.692																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(1993-1995)CAC>CAT		zinc finger protein 536							43.0	48.0	46.0					19																	30936464		2203	4299	6502	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936464C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1995C>T	19.37:g.30936464C>T						ZNF536_uc010edd.1_Silent_p.H665H	p.H665H	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	2133	+	Esophageal squamous(110;0.0834)		665					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1995C>T	CCDS32984.1																																																																																				0.692	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		10	46	0	0	0	0	10	46				
KIAA0355	9710	broad.mit.edu	37	19	34833300	34833300	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:34833300C>T	ENST00000299505.6	+	10	3334	c.2461C>T	c.(2461-2463)Cgt>Tgt	p.R821C		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	821										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CTGGCCCAACCGTGACCAAAG	0.522																																						uc002nvd.3		NA																	0				ovary(1)	1						c.(2461-2463)CGT>TGT		hypothetical protein LOC9710							158.0	166.0	164.0					19																	34833300		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34833300C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2461C>T	19.37:g.34833300C>T	ENSP00000299505:p.Arg821Cys						p.R821C	NM_014686	NP_055501	O15063	K0355_HUMAN			10	3320	+	Esophageal squamous(110;0.162)		821					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.2461C>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040118	0.75732	.	.	ENSG00000166398	ENST00000299505	T	0.42513	0.97	5.87	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58423	-0.7639	10	0.87932	D	0	-30.7039	15.3223	0.74132	0.1408:0.8592:0.0:0.0	.	821	O15063	K0355_HUMAN	C	821	ENSP00000299505:R821C	ENSP00000299505:R821C	R	+	1	0	KIAA0355	39525140	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.456000	0.60081	1.444000	0.47605	0.655000	0.94253	CGT		0.522	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		62	84	0	0	0	0	62	84				
FAM187B	148109	broad.mit.edu	37	19	35719283	35719283	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:35719283G>T	ENST00000324675.3	-	1	349	c.301C>A	c.(301-303)Cgc>Agc	p.R101S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	101						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						ACCACTTGGCGGCCATTCTTG	0.512																																						uc002nyk.1		NA																	0				ovary(2)	2						c.(301-303)CGC>AGC		family with sequence similarity 187, member B							90.0	79.0	82.0					19																	35719283		2203	4300	6503	SO:0001583	missense	148109					integral to membrane		g.chr19:35719283G>T	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.301C>A	19.37:g.35719283G>T	ENSP00000323355:p.Arg101Ser						p.R101S	NM_152481	NP_689694	Q17R55	F187B_HUMAN			1	346	-			101			Extracellular (Potential).		Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.301C>A	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	G	3.423	-0.117799	0.06838	.	.	ENSG00000177558	ENST00000324675	T	0.21031	2.03	5.33	-5.3	0.02738	Immunoglobulin-like fold (1);	4.345550	0.00481	N	0.000120	T	0.09291	0.0229	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.10450	0.005	T	0.28170	-1.0052	10	0.09084	T	0.74	0.1288	7.9831	0.30196	0.0:0.2781:0.513:0.209	.	101	Q17R55	F187B_HUMAN	S	101	ENSP00000323355:R101S	ENSP00000323355:R101S	R	-	1	0	FAM187B	40411123	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.912000	0.04046	-0.918000	0.03808	-0.262000	0.10625	CGC		0.512	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		43	64	1	0	3.55e-26	4.51e-26	43	64				
ZNF382	84911	broad.mit.edu	37	19	37118397	37118397	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:37118397C>G	ENST00000292928.2	+	5	1711	c.1598C>G	c.(1597-1599)tCa>tGa	p.S533*	CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Nonsense_Mutation_p.S532*|ZNF382_ENST00000439428.1_Nonsense_Mutation_p.S532*|ZNF382_ENST00000423582.1_Nonsense_Mutation_p.S484*	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	533	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTTGTAAGTCAAACCTCATT	0.383																																						uc002oek.2		NA																	0					0						c.(1597-1599)TCA>TGA		zinc finger protein 382							77.0	76.0	77.0					19																	37118397		2203	4300	6503	SO:0001587	stop_gained	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37118397C>G	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1598C>G	19.37:g.37118397C>G	ENSP00000292928:p.Ser533*					ZNF382_uc010efa.2_Nonsense_Mutation_p.S484*|ZNF382_uc010efb.2_Nonsense_Mutation_p.S532*|ZNF382_uc002oel.2_Nonsense_Mutation_p.S532*	p.S533*	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1711	+	Esophageal squamous(110;0.198)		533			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).|C2H2-type 10.		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Nonsense_Mutation	SNP	ENST00000292928.2	37	c.1598C>G	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	C	48	14.386336	0.99793	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	.	.	.	4.35	3.32	0.38043	.	0.221425	0.23204	N	0.050751	.	.	.	.	.	.	0.48762	D	0.999706	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.5591	0.17133	0.0:0.6877:0.2048:0.1076	.	.	.	.	X	484;533;532;532	.	ENSP00000292928:S533X	S	+	2	0	ZNF382	41810237	0.000000	0.05858	1.000000	0.80357	0.979000	0.70002	0.704000	0.25661	2.418000	0.82041	0.591000	0.81541	TCA		0.383	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		16	26	0	0	0	0	16	26				
ZNF229	7772	broad.mit.edu	37	19	44933285	44933285	+	Silent	SNP	G	G	T	rs371132127		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:44933285G>T	ENST00000588931.1	-	6	2104	c.1671C>A	c.(1669-1671)tcC>tcA	p.S557S	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Silent_p.S551S|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGAGGTCGGAGCTCCGGC	0.542																																						uc002oze.1		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(1669-1671)TCC>TCA		zinc finger protein 229							67.0	73.0	71.0					19																	44933285		2186	4296	6482	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933285G>T	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1671C>A	19.37:g.44933285G>T						ZNF229_uc010ejk.1_Silent_p.S211S|ZNF229_uc010ejl.1_Silent_p.S551S	p.S557S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	2105	-		Prostate(69;0.0352)	557			C2H2-type 9.		B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.1671C>A	CCDS42574.1																																																																																				0.542	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		45	28	1	0	2.13e-23	2.69e-23	45	28				
POLD1	5424	broad.mit.edu	37	19	50906794	50906794	+	Silent	SNP	C	C	G	rs377462923		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:50906794C>G	ENST00000440232.2	+	10	1235	c.1182C>G	c.(1180-1182)acC>acG	p.T394T	POLD1_ENST00000595904.1_Silent_p.T394T|POLD1_ENST00000599857.1_Silent_p.T394T	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	394					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACGTGATCACCGGTTACAACA	0.617								DNA polymerases (catalytic subunits)																														uc002psb.3		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(1180-1182)ACC>ACG	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase delta 1							256.0	219.0	232.0					19																	50906794		2203	4300	6503	SO:0001819	synonymous_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50906794C>G		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1182C>G	19.37:g.50906794C>G						POLD1_uc002psc.3_Silent_p.T394T|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Silent_p.T394T	p.T394T	NM_002691	NP_002682	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	10	1238	+		all_neural(266;0.0571)	394					Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	c.1182C>G	CCDS12795.1																																																																																				0.617	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			55	82	0	0	0	0	55	82				
ZNF845	91664	broad.mit.edu	37	19	53854072	53854072	+	Splice_Site	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:53854072T>A	ENST00000595091.1	+	5	363	c.144T>A	c.(142-144)gaT>gaA	p.D48E	ZNF845_ENST00000458035.1_Splice_Site_p.D48E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTTCTAGATATCTCTTCCA	0.338																																						uc010ydv.1		NA																	0					0						c.(142-144)GAT>GAA		zinc finger protein 845							27.0	19.0	21.0					19																	53854072		692	1590	2282	SO:0001630	splice_region_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854072T>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.143-1T>A	19.37:g.53854072T>A						ZNF845_uc010ydw.1_Missense_Mutation_p.D48E	p.D48E	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	261	+			48			KRAB.			Missense_Mutation	SNP	ENST00000595091.1	37	c.144T>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	5.203	0.223056	0.09863	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.01665	4.7	1.76	-0.502	0.12004	Krueppel-associated box (4);	.	.	.	.	T	0.00998	0.0033	N	0.10645	0.015	0.09310	N	1	B	0.29232	0.238	B	0.28638	0.092	T	0.49753	-0.8906	9	0.21014	T	0.42	.	5.0752	0.14628	0.0:0.3646:0.0:0.6354	.	48	Q96IR2	ZN845_HUMAN	E	48	ENSP00000388311:D48E	ENSP00000412086:D48E	D	+	3	2	ZNF845	58545884	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.117000	0.15583	-0.020000	0.14032	-0.526000	0.04340	GAT		0.338	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	Missense_Mutation	12	92	0	0	0	0	12	92				
CNOT3	4849	broad.mit.edu	37	19	54656721	54656721	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:54656721C>G	ENST00000406403.1	+	15	3625	c.2022C>G	c.(2020-2022)atC>atG	p.I674M	CNOT3_ENST00000358389.3_Missense_Mutation_p.I493M|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.I674M			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	674	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTTCTTCATCTTCTACTATC	0.682																																						uc002qdj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2020-2022)ATC>ATG		CCR4-NOT transcription complex, subunit 3							117.0	120.0	119.0					19																	54656721		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54656721C>G	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2022C>G	19.37:g.54656721C>G	ENSP00000383954:p.Ile674Met					CNOT3_uc010yel.1_Missense_Mutation_p.I674M|CNOT3_uc002qdi.2_Missense_Mutation_p.S586C|CNOT3_uc002qdk.1_Missense_Mutation_p.I674M|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Missense_Mutation_p.I129M	p.I674M	NM_014516	NP_055331	O75175	CNOT3_HUMAN			16	2333	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		674					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.2022C>G	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.36|15.36	2.809361|2.809361	0.50421|0.50421	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000457463	T;T;T|.	0.52526|.	0.66;0.66;0.66|.	3.08|3.08	3.08|3.08	0.35506|0.35506	NOT2/NOT3/NOT5 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65428|0.65428	0.2690|0.2690	M|M	0.75150|0.75150	2.29|2.29	0.48696|0.48696	D|D	0.999699|0.999699	D;D;D|.	0.69078|.	0.997;0.995;0.997|.	D;D;D|.	0.81914|.	0.995;0.984;0.995|.	T|T	0.65651|0.65651	-0.6116|-0.6116	10|5	0.72032|.	D|.	0.01|.	-16.269|-16.269	8.4749|8.4749	0.33007|0.33007	0.0:0.8808:0.0:0.1192|0.0:0.8808:0.0:0.1192	.|.	674;493;674|.	B7Z6J7;O75175-3;O75175|.	.;.;CNOT3_HUMAN|.	M|V	674;493;674|206	ENSP00000221232:I674M;ENSP00000351159:I493M;ENSP00000383954:I674M|.	ENSP00000221232:I674M|.	I|L	+|+	3|1	3|0	CNOT3|CNOT3	59348533|59348533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.473000|2.473000	0.45145|0.45145	2.036000|2.036000	0.60181|0.60181	0.561000|0.561000	0.74099|0.74099	ATC|CTT		0.682	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		42	129	0	0	0	0	42	129				
CRIM1	51232	broad.mit.edu	37	2	36691694	36691694	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:36691694G>C	ENST00000280527.2	+	5	1254	c.887G>C	c.(886-888)gGc>gCc	p.G296A		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	296					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGTCTCTCTGGCTTATGTGGT	0.493																																						uc002rpd.2		NA																	0				ovary(2)|skin(1)	3						c.(886-888)GGC>GCC		cysteine-rich motor neuron 1 precursor							235.0	213.0	221.0					2																	36691694		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36691694G>C	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.887G>C	2.37:g.36691694G>C	ENSP00000280527:p.Gly296Ala						p.G296A	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			5	926	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	296			Extracellular (Potential).		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.887G>C	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984326	0.74474	.	.	ENSG00000150938	ENST00000280527;ENST00000426856	T	0.04234	3.67	5.94	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	L	0.53249	1.67	0.52099	D	0.999944	D	0.76494	0.999	D	0.83275	0.996	T	0.16276	-1.0408	10	0.06236	T	0.91	-19.4818	11.5317	0.50614	0.1431:0.0:0.8569:0.0	.	296	Q9NZV1	CRIM1_HUMAN	A	296;188	ENSP00000280527:G296A	ENSP00000280527:G296A	G	+	2	0	CRIM1	36545198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.491000	0.60326	0.852000	0.35287	0.650000	0.86243	GGC		0.493	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		67	106	0	0	0	0	67	106				
PRKD3	23683	broad.mit.edu	37	2	37520323	37520323	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:37520323G>A	ENST00000379066.1	-	3	1142	c.380C>T	c.(379-381)tCa>tTa	p.S127L	PRKD3_ENST00000234179.2_Missense_Mutation_p.S127L			O94806	KPCD3_HUMAN	protein kinase D3	127					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTCATCTGCTGAGGTAATCAG	0.408																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(379-381)TCA>TTA		protein kinase D3							135.0	125.0	129.0					2																	37520323		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37520323G>A	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.380C>T	2.37:g.37520323G>A	ENSP00000368356:p.Ser127Leu					PRKD3_uc002rqf.1_Missense_Mutation_p.S127L	p.S127L	NM_005813	NP_005804	O94806	KPCD3_HUMAN			2	935	-		all_hematologic(82;0.21)	127					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.380C>T	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395768	0.83011	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	T;T;D	0.86297	-0.33;-0.33;-2.1	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	D	0.89626	0.6769	M	0.74467	2.265	0.80722	D	1	B;B	0.19817	0.039;0.013	B;B	0.33254	0.16;0.031	D	0.87056	0.2150	10	0.72032	D	0.01	-15.994	19.5806	0.95465	0.0:0.0:1.0:0.0	.	127;127	O94806-2;O94806	.;KPCD3_HUMAN	L	127;127;23	ENSP00000368356:S127L;ENSP00000234179:S127L;ENSP00000401839:S23L	ENSP00000234179:S127L	S	-	2	0	PRKD3	37373827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.686000	0.91538	0.650000	0.86243	TCA		0.408	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		23	60	0	0	0	0	23	60				
NRXN1	9378	broad.mit.edu	37	2	50149151	50149151	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:50149151C>A	ENST00000406316.2	-	22	5841	c.4365G>T	c.(4363-4365)gaG>gaT	p.E1455D	NRXN1_ENST00000342183.5_Missense_Mutation_p.E420D|NRXN1_ENST00000404971.1_Missense_Mutation_p.E1525D|NRXN1_ENST00000406859.3_Missense_Mutation_p.E1455D|NRXN1_ENST00000401669.2_Missense_Mutation_p.E1485D|NRXN1_ENST00000401710.1_Missense_Mutation_p.E473D|NRXN1_ENST00000405472.3_Missense_Mutation_p.E1477D|NRXN1_ENST00000402717.3_Missense_Mutation_p.E1477D	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1455					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGGTTGTTTCTCCTTTACAA	0.413																																						uc010fbp.2		NA																	0				ovary(2)	2						c.(1258-1260)GAG>GAT		neurexin 1 isoform beta precursor							201.0	171.0	181.0					2																	50149151		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50149151C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4365G>T	2.37:g.50149151C>A	ENSP00000384311:p.Glu1455Asp					NRXN1_uc002rxb.3_Missense_Mutation_p.E1154D|NRXN1_uc010fbq.2_Missense_Mutation_p.E1525D|NRXN1_uc002rxe.3_Missense_Mutation_p.E1455D|NRXN1_uc010yon.1_Missense_Mutation_p.E120D|NRXN1_uc002rxa.3_Missense_Mutation_p.E117D	p.E420D	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2067	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	420			Cytoplasmic (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1260G>T	CCDS54360.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	9.536|9.536|9.536	1.112201|1.112201|1.112201	0.20795|0.20795|0.20795	.|.|.	.|.|.	ENSG00000179915|ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000378262|ENST00000412315	T;T;T;T;T;T;T;T|.|.	0.70399|.|.	1.01;2.2;0.22;0.18;-0.48;-0.37;-0.08;0.04|.|.	5.31|5.31|5.31	3.52|3.52|3.52	0.40303|0.40303|0.40303	.|.|.	0.105886|0.105886|.	0.33895|0.33895|.	U|U|.	0.004444|0.004444|.	T|.|T	0.38321|.|0.38321	0.1036|.|0.1036	L|L|L	0.28344|0.28344|0.28344	0.845|0.845|0.845	0.32283|0.32283|0.32283	N|N|N	0.567307|0.567307|0.567307	P;B;B;B;B;P|.|.	0.49696|.|.	0.927;0.007;0.002;0.037;0.034;0.65|.|.	D;B;B;B;B;P|.|.	0.67725|.|.	0.953;0.017;0.037;0.024;0.029;0.83|.|.	T|.|T	0.45585|.|0.45585	-0.9251|.|-0.9251	10|.|5	0.59425|0.66056|.	D|D|.	0.04|0.02|.	.|.|.	10.0044|10.0044|10.0044	0.41949|0.41949|0.41949	0.0:0.7271:0.0:0.2729|0.0:0.7271:0.0:0.2729|0.0:0.7271:0.0:0.2729	.|.|.	120;1525;420;1455;1474;117|.|.	B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0|.|.	.;.;NRX1B_HUMAN;.;.;.|.|.	D|X|I	420;374;473;1525;1455;1477;1485;1526;1477;1455|122|188	ENSP00000341184:E420D;ENSP00000385580:E473D;ENSP00000385142:E1525D;ENSP00000384311:E1455D;ENSP00000434015:E1477D;ENSP00000385017:E1485D;ENSP00000385434:E1477D;ENSP00000385681:E1455D|.|.	ENSP00000341184:E420D|ENSP00000367510:E122X|.	E|E|R	-|-|-	3|1|2	2|0|0	NRXN1|NRXN1|NRXN1	50002655|50002655|50002655	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.934000|0.934000|0.934000	0.57294|0.57294|0.57294	1.545000|1.545000|1.545000	0.36169|0.36169|0.36169	0.803000|0.803000|0.803000	0.34113|0.34113|0.34113	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|GAA|AGA		0.413	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			33	47	1	0	8.17e-17	1e-16	33	47				
SPTBN1	6711	broad.mit.edu	37	2	54891603	54891603	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:54891603T>G	ENST00000356805.4	+	33	6715	c.6434T>G	c.(6433-6435)gTg>gGg	p.V2145G	AC093110.3_ENST00000456363.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2145					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCAGAAACGGTGGACACAAGC	0.562																																						uc002rxu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(6433-6435)GTG>GGG		spectrin, beta, non-erythrocytic 1 isoform 1							197.0	180.0	186.0					2																	54891603		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54891603T>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6434T>G	2.37:g.54891603T>G	ENSP00000349259:p.Val2145Gly					SPTBN1_uc010you.1_Missense_Mutation_p.V135G	p.V2145G	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		33	6683	+			2145					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.6434T>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	T	5.473	0.272342	0.10349	.	.	ENSG00000115306	ENST00000356805	T	0.69806	-0.43	5.93	-5.29	0.02747	.	1.784080	0.02557	N	0.096257	T	0.45975	0.1369	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34428	-0.9829	10	0.21540	T	0.41	.	13.8271	0.63357	0.0:0.639:0.2173:0.1436	.	135;2145	B4DIF8;Q01082	.;SPTB2_HUMAN	G	2145	ENSP00000349259:V2145G	ENSP00000349259:V2145G	V	+	2	0	SPTBN1	54745107	0.077000	0.21312	0.001000	0.08648	0.930000	0.56654	-0.238000	0.08977	-1.006000	0.03412	0.533000	0.62120	GTG		0.562	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			42	219	0	0	0	0	42	219				
DYSF	8291	broad.mit.edu	37	2	71780158	71780158	+	Silent	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:71780158C>G	ENST00000258104.3	+	20	2047	c.1770C>G	c.(1768-1770)cgC>cgG	p.R590R	DYSF_ENST00000409651.1_Silent_p.R622R|DYSF_ENST00000410041.1_Silent_p.R608R|DYSF_ENST00000410020.3_Silent_p.R608R|DYSF_ENST00000409762.1_Silent_p.R607R|DYSF_ENST00000409366.1_Silent_p.R591R|DYSF_ENST00000413539.2_Silent_p.R621R|DYSF_ENST00000409744.1_Silent_p.R577R|DYSF_ENST00000394120.2_Silent_p.R591R|DYSF_ENST00000409582.3_Silent_p.R607R|DYSF_ENST00000429174.2_Silent_p.R590R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	590					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTAGGAGGCGCAAGTACTCCC	0.567																																						uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(1768-1770)CGC>CGG		dysferlin isoform 8							81.0	68.0	73.0					2																	71780158		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71780158C>G	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1770C>G	2.37:g.71780158C>G						DYSF_uc010feg.2_Silent_p.R621R|DYSF_uc010feh.2_Silent_p.R576R|DYSF_uc002sig.3_Silent_p.R576R|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.R590R|DYSF_uc010fef.2_Silent_p.R607R|DYSF_uc010fei.2_Silent_p.R607R|DYSF_uc010fek.2_Silent_p.R608R|DYSF_uc010fej.2_Silent_p.R577R|DYSF_uc010fel.2_Silent_p.R577R|DYSF_uc010feo.2_Silent_p.R622R|DYSF_uc010fem.2_Silent_p.R591R|DYSF_uc010fen.2_Silent_p.R608R|DYSF_uc002sif.2_Silent_p.R591R	p.R590R	NM_003494	NP_003485	O75923	DYSF_HUMAN			20	2146	+			590			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.1770C>G	CCDS1918.1																																																																																				0.567	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		3	55	0	0	0	0	3	55				
C1QL2	165257	broad.mit.edu	37	2	119915824	119915824	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:119915824C>T	ENST00000272520.3	-	1	641	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	8					protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						AGCGGCACGGCGATGAGCAGC	0.741										HNSCC(49;0.14)																												uc002tlo.2		NA																	0				pancreas(1)	1						c.(22-24)GCC>ACC		complement component 1, q subcomponent-like 2							7.0	8.0	8.0					2																	119915824		1291	3045	4336	SO:0001583	missense	165257					collagen		g.chr2:119915824C>T	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.22G>A	2.37:g.119915824C>T	ENSP00000272520:p.Ala8Thr	HNSCC(49;0.14)					p.A8T	NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN			1	648	-			8						Missense_Mutation	SNP	ENST00000272520.3	37	c.22G>A	CCDS42737.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547638	0.65311	.	.	ENSG00000144119	ENST00000272520	T	0.80304	-1.36	4.02	4.02	0.46733	.	0.654924	0.12609	N	0.454007	T	0.59500	0.2198	N	0.14661	0.345	0.42468	D	0.992815	P	0.43094	0.799	B	0.28139	0.086	T	0.59542	-0.7435	9	.	.	.	.	10.9911	0.47549	0.0:0.8097:0.1903:0.0	.	8	Q7Z5L3	C1QL2_HUMAN	T	8	ENSP00000272520:A8T	.	A	-	1	0	C1QL2	119632294	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	1.492000	0.35594	2.046000	0.60703	0.561000	0.74099	GCC		0.741	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		3	10	0	0	0	0	3	10				
LRP1B	53353	broad.mit.edu	37	2	141359174	141359174	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:141359174T>A	ENST00000389484.3	-	42	7805	c.6834A>T	c.(6832-6834)agA>agT	p.R2278S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2278					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATCCCAGGCTCTGTGATAGG	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6832-6834)AGA>AGT		low density lipoprotein-related protein 1B							120.0	106.0	111.0					2																	141359174		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141359174T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6834A>T	2.37:g.141359174T>A	ENSP00000374135:p.Arg2278Ser	TSP Lung(27;0.18)					p.R2278S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	42	7806	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2278			Extracellular (Potential).|LDL-receptor class B 23.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6834A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964086	0.53507	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90900	-2.75	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.146153	0.44285	D	0.000478	D	0.88607	0.6482	L	0.55213	1.73	0.47511	D	0.99944	P	0.46395	0.877	B	0.43360	0.417	D	0.86763	0.1968	10	0.22109	T	0.4	.	15.0609	0.71951	0.0:0.0:0.0:1.0	.	2278	Q9NZR2	LRP1B_HUMAN	S	2278;2216	ENSP00000374135:R2278S	ENSP00000374135:R2278S	R	-	3	2	LRP1B	141075644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.684000	0.37649	2.015000	0.59207	0.459000	0.35465	AGA		0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	47	0	0	0	0	6	47				
TNFAIP6	7130	broad.mit.edu	37	2	152226607	152226607	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:152226607A>T	ENST00000243347.3	+	4	543	c.468A>T	c.(466-468)gaA>gaT	p.E156D	RN7SL124P_ENST00000498656.2_RNA|MIR4773-1_ENST00000585225.1_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	156	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	ATGAGTACGAAGATAACCAAA	0.398																																						uc002txk.2		NA																	0					0						c.(466-468)GAA>GAT		tumor necrosis factor, alpha-induced protein 6							157.0	157.0	157.0					2																	152226607		2203	4300	6503	SO:0001583	missense	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152226607A>T		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.468A>T	2.37:g.152226607A>T	ENSP00000243347:p.Glu156Asp						p.E156D	NM_007115	NP_009046	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	544	+			156			CUB.		Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	c.468A>T	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792970	0.31685	.	.	ENSG00000123610	ENST00000243347	T	0.27256	1.68	5.49	-11.0	0.00169	CUB (5);	0.268996	0.41823	N	0.000805	T	0.06416	0.0165	N	0.04959	-0.14	0.30160	N	0.802314	B	0.02656	0.0	B	0.01281	0.0	T	0.04427	-1.0952	10	0.38643	T	0.18	.	3.4952	0.07653	0.4922:0.0703:0.3069:0.1307	.	156	P98066	TSG6_HUMAN	D	156	ENSP00000243347:E156D	ENSP00000243347:E156D	E	+	3	2	TNFAIP6	151934853	0.210000	0.23517	0.782000	0.31804	0.862000	0.49288	-0.397000	0.07269	-1.453000	0.01928	-0.375000	0.07067	GAA		0.398	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		64	69	0	0	0	0	64	69				
GALNT5	11227	broad.mit.edu	37	2	158162305	158162305	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:158162305T>C	ENST00000259056.4	+	8	2969	c.2484T>C	c.(2482-2484)acT>acC	p.T828T		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	828	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TTGAAAACACTACAGTCATTC	0.358																																						uc002tzg.2		NA																	0				breast(3)|skin(1)	4						c.(2482-2484)ACT>ACC		N-acetylgalactosaminyltransferase 5							171.0	155.0	161.0					2																	158162305		2203	4300	6503	SO:0001819	synonymous_variant	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158162305T>C	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2484T>C	2.37:g.158162305T>C						GALNT5_uc010zci.1_RNA	p.T828T	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			8	2739	+			828			Lumenal (Potential).|Ricin B-type lectin.		A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	ENST00000259056.4	37	c.2484T>C	CCDS2203.1																																																																																				0.358	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		6	46	0	0	0	0	6	46				
MARCH7	64844	broad.mit.edu	37	2	160619499	160619499	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:160619499G>A	ENST00000259050.4	+	8	2124	c.2002G>A	c.(2002-2004)Gtc>Atc	p.V668I	MARCH7_ENST00000539065.1_Missense_Mutation_p.V612I|MARCH7_ENST00000409591.1_Missense_Mutation_p.V630I|MARCH7_ENST00000409175.1_Missense_Mutation_p.V668I	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	668					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AAGCACACGTGTCCGAGTAAG	0.413																																						uc002uax.2		NA																	0					0						c.(2002-2004)GTC>ATC		axotrophin							96.0	87.0	90.0					2																	160619499		2203	4300	6503	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160619499G>A	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.2002G>A	2.37:g.160619499G>A	ENSP00000259050:p.Val668Ile					MARCH7_uc010foq.2_Missense_Mutation_p.V668I|MARCH7_uc010zcn.1_Missense_Mutation_p.V612I|MARCH7_uc010for.2_Missense_Mutation_p.V630I|MARCH7_uc002uay.2_RNA	p.V668I	NM_022826	NP_073737	Q9H992	MARH7_HUMAN			8	2124	+			668					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.2002G>A	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542887	0.86022	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591;ENST00000420397	T;T;T;T;T	0.44881	2.52;2.6;2.52;2.51;0.91	5.11	5.11	0.69529	.	0.201012	0.43260	D	0.000584	T	0.53753	0.1816	L	0.36672	1.1	0.44871	D	0.997885	D;D;D	0.64830	0.99;0.994;0.994	D;D;D	0.75484	0.986;0.97;0.97	T	0.39354	-0.9618	10	0.14656	T	0.56	-27.7127	18.8909	0.92403	0.0:0.0:1.0:0.0	.	612;630;668	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	I	668;612;668;630;101	ENSP00000386830:V668I;ENSP00000442992:V612I;ENSP00000259050:V668I;ENSP00000387238:V630I;ENSP00000391493:V101I	ENSP00000259050:V668I	V	+	1	0	MARCH7	160327745	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.630000	0.74272	2.527000	0.85204	0.650000	0.86243	GTC		0.413	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		5	41	0	0	0	0	5	41				
SLC4A10	57282	broad.mit.edu	37	2	162661031	162661031	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:162661031G>A	ENST00000446997.1	+	3	296	c.203G>A	c.(202-204)cGt>cAt	p.R68H	SLC4A10_ENST00000272716.5_Missense_Mutation_p.R68H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R68H|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R68H|SLC4A10_ENST00000375514.5_Missense_Mutation_p.R79H|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R68H|SLC4A10_ENST00000493021.1_3'UTR	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	68					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.R68H(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CACAGGCATCGTGGTCATAAA	0.418																																						uc002ubx.3		NA																	2	Substitution - Missense(2)		endometrium(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(202-204)CGT>CAT		solute carrier family 4, sodium bicarbonate							97.0	100.0	99.0					2																	162661031		1912	4129	6041	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162661031G>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.203G>A	2.37:g.162661031G>A	ENSP00000393066:p.Arg68His					SLC4A10_uc010fpa.1_Missense_Mutation_p.R80H|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R68H|SLC4A10_uc010zcs.1_Missense_Mutation_p.R79H	p.R68H	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			3	387	+			68			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.203G>A	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651374	0.29336	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T;T	0.79352	-1.24;-1.24;0.59;-1.25;-1.25;-1.26	5.36	5.36	0.76844	.	0.049053	0.85682	D	0.000000	T	0.61739	0.2371	N	0.11064	0.09	0.45554	D	0.998504	B;B;B;B	0.17268	0.018;0.005;0.018;0.021	B;B;B;B	0.15052	0.012;0.002;0.012;0.004	T	0.58064	-0.7702	10	0.10902	T	0.67	.	19.4529	0.94875	0.0:0.0:1.0:0.0	.	79;68;68;68	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	H	79;68;68;68;68;68;68;68	ENSP00000364664:R79H;ENSP00000395797:R68H;ENSP00000437527:R68H;ENSP00000272716:R68H;ENSP00000393066:R68H;ENSP00000404486:R68H	ENSP00000272716:R68H	R	+	2	0	SLC4A10	162369277	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.090000	0.71397	2.685000	0.91497	0.455000	0.32223	CGT		0.418	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		22	21	0	0	0	0	22	21				
KCNH7	90134	broad.mit.edu	37	2	163280005	163280005	+	Silent	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:163280005A>T	ENST00000332142.5	-	9	2094	c.1995T>A	c.(1993-1995)atT>atA	p.I665I	KCNH7_ENST00000328032.4_Silent_p.I658I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	665					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GTCTTTGGATAATTGCAGATA	0.418																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	0				ovary(3)|skin(2)	5						c.(1993-1995)ATT>ATA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						132.0	129.0	130.0					2																	163280005		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163280005A>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1995T>A	2.37:g.163280005A>T						KCNH7_uc002uci.2_Silent_p.I658I	p.I665I	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			9	2207	-			665			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.1995T>A	CCDS2219.1																																																																																				0.418	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		51	57	0	0	0	0	51	57				
TTN	7273	broad.mit.edu	37	2	179587427	179587427	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:179587427C>G	ENST00000591111.1	-	74	21472	c.21248G>C	c.(21247-21249)aGt>aCt	p.S7083T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S7400T|TTN_ENST00000342992.6_Missense_Mutation_p.S6156T|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12662	Ig-like 52.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTCCTATACTATTTTCTGC	0.328																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(18466-18468)AGT>ACT		titin isoform N2-A							45.0	45.0	45.0					2																	179587427		1857	4102	5959	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587427C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21248G>C	2.37:g.179587427C>G	ENSP00000465570:p.Ser7083Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2817T	p.S6156T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		73	18691	-			7083					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18467G>C		.	.	.	.	.	.	.	.	.	.	C	5.692	0.312312	0.10789	.	.	ENSG00000155657	ENST00000342992	T	0.69685	-0.42	5.95	2.73	0.32206	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.56396	0.1982	L	0.45581	1.43	0.27181	N	0.960667	B	0.16396	0.017	B	0.17098	0.017	T	0.53954	-0.8365	9	0.87932	D	0	.	5.4228	0.16409	0.1186:0.6259:0.1155:0.14	.	7083	Q8WZ42	TITIN_HUMAN	T	6156	ENSP00000343764:S6156T	ENSP00000343764:S6156T	S	-	2	0	TTN	179295672	0.185000	0.23213	0.460000	0.27093	0.842000	0.47809	0.738000	0.26158	0.839000	0.34971	0.650000	0.86243	AGT		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	14	0	0	0	0	14	14				
ZNF804A	91752	broad.mit.edu	37	2	185800683	185800683	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:185800683C>A	ENST00000302277.6	+	4	1154	c.560C>A	c.(559-561)cCa>cAa	p.P187Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	187							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCTGAAGATCCAGAAAGTGCA	0.368																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(559-561)CCA>CAA		zinc finger protein 804A							66.0	68.0	67.0					2																	185800683		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185800683C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.560C>A	2.37:g.185800683C>A	ENSP00000303252:p.Pro187Gln						p.P187Q	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1154	+			187					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.560C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886426	0.33348	.	.	ENSG00000170396	ENST00000302277	T	0.06218	3.33	5.52	4.64	0.57946	.	1.017120	0.07860	N	0.966096	T	0.10551	0.0258	L	0.39898	1.24	0.33771	D	0.623046	P	0.38250	0.624	B	0.41088	0.347	T	0.16276	-1.0408	10	0.72032	D	0.01	0.0809	13.3004	0.60321	0.0:0.9236:0.0:0.0764	.	187	Q7Z570	Z804A_HUMAN	Q	187	ENSP00000303252:P187Q	ENSP00000303252:P187Q	P	+	2	0	ZNF804A	185508928	0.000000	0.05858	0.476000	0.27291	0.612000	0.37316	0.797000	0.26999	1.321000	0.45227	0.467000	0.42956	CCA		0.368	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		20	28	1	0	1.16e-05	1.34e-05	20	28				
ZNF804A	91752	broad.mit.edu	37	2	185803540	185803540	+	Silent	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:185803540C>G	ENST00000302277.6	+	4	4011	c.3417C>G	c.(3415-3417)acC>acG	p.T1139T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1139							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGCTCTCACCAGAACCTCAT	0.537																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3415-3417)ACC>ACG		zinc finger protein 804A							160.0	153.0	155.0					2																	185803540		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185803540C>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3417C>G	2.37:g.185803540C>G							p.T1139T	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	4011	+			1139					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.3417C>G	CCDS2291.1																																																																																				0.537	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		43	66	0	0	0	0	43	66				
PTH2R	5746	broad.mit.edu	37	2	209308082	209308082	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:209308082T>C	ENST00000272847.2	+	6	732	c.519T>C	c.(517-519)caT>caC	p.H173H	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	173					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	GACGATTGCATTGCACTAGGA	0.423																																						uc002vdb.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(517-519)CAT>CAC		parathyroid hormone 2 receptor precursor							92.0	84.0	87.0					2																	209308082		2203	4300	6503	SO:0001819	synonymous_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209308082T>C	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.519T>C	2.37:g.209308082T>C						PTH2R_uc010zjb.1_Silent_p.H184H	p.H173H	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	6	732	+			173			Cytoplasmic (Potential).		Q8N429	Silent	SNP	ENST00000272847.2	37	c.519T>C	CCDS2383.1																																																																																				0.423	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		19	6	0	0	0	0	19	6				
RBCK1	10616	broad.mit.edu	37	20	408138	408138	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:408138T>C	ENST00000356286.5	+	9	1914		c.e9+2		RBCK1_ENST00000353660.3_Splice_Site|RBCK1_ENST00000382181.2_Splice_Site	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1						negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CTCTGCAAGGTGGGGCCTGCA	0.572																																						uc002wdp.3		NA																	0					0						c.e9+2		RanBP-type and C3HC4-type zinc finger containing							157.0	108.0	125.0					20																	408138		2203	4300	6503	SO:0001630	splice_region_variant	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:408138T>C	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1209+2T>C	20.37:g.408138T>C						RBCK1_uc010zpm.1_Splice_Site|RBCK1_uc002wdq.3_Splice_Site_p.K361_splice|RBCK1_uc010fzy.2_Splice_Site|RBCK1_uc002wdr.3_Splice_Site_p.K233_splice	p.K403_splice	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN			9	1902	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)						O95623|Q86SL2|Q96BS3|Q9BYM9	Splice_Site	SNP	ENST00000356286.5	37	c.1209_splice	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878226	0.72294	.	.	ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000382181	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8255	0.46629	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBCK1	356138	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.614000	0.67695	2.124000	0.65301	0.460000	0.39030	.		0.572	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229	Intron	4	74	0	0	0	0	4	74				
SIRPB1	10326	broad.mit.edu	37	20	1559072	1559072	+	Silent	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:1559072G>C	ENST00000381605.4	-	2	409	c.345C>G	c.(343-345)gcC>gcG	p.A115A	RP4-576H24.4_ENST00000564763.1_Silent_p.A115A|SIRPB1_ENST00000381603.3_Silent_p.A115A|SIRPB1_ENST00000262929.5_Silent_p.A114A	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	115	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTAGGTGCCGGCGTCTGCTG	0.532																																						uc010gai.2		NA																	0				ovary(1)	1						c.(343-345)GCC>GCG		signal-regulatory protein beta 1 isoform 1							212.0	182.0	192.0					20																	1559072		2199	4255	6454	SO:0001819	synonymous_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1559072G>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.345C>G	20.37:g.1559072G>C						SIRPB1_uc002wfk.3_Silent_p.A115A	p.A115A	NM_006065	NP_006056	O00241	SIRB1_HUMAN			2	444	-			115			Extracellular (Potential).|Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.345C>G	CCDS13019.1																																																																																				0.532	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		42	196	0	0	0	0	42	196				
DEFB123	245936	broad.mit.edu	37	20	30028525	30028525	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:30028525G>C	ENST00000376309.3	+	1	204	c.24G>C	c.(22-24)ttG>ttC	p.L8F		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	8					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTGACTTTGACTGTGCTGC	0.542																																						uc002wvy.2		NA																	0					0						c.(22-24)TTG>TTC		defensin, beta 123 precursor							377.0	333.0	348.0					20																	30028525		2203	4300	6503	SO:0001583	missense	245936				defense response to bacterium	extracellular region		g.chr20:30028525G>C	AA933749	CCDS13180.1	20q11.1	2008-07-17			ENSG00000180424	ENSG00000180424		"""Defensins, beta"""	18103	protein-coding gene	gene with protein product	"""beta defensin 23"""					11854508	Standard	NM_153324		Approved	DEFB-23	uc002wvy.3	Q8N688	OTTHUMG00000032170	ENST00000376309.3:c.24G>C	20.37:g.30028525G>C	ENSP00000365486:p.Leu8Phe						p.L8F	NM_153324	NP_697019	Q8N688	DB123_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		1	115	+	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		8						Missense_Mutation	SNP	ENST00000376309.3	37	c.24G>C	CCDS13180.1	.	.	.	.	.	.	.	.	.	.	g	12.02	1.812353	0.32053	.	.	ENSG00000180424	ENST00000376309	T	0.14266	2.52	4.24	3.26	0.37387	.	0.252896	0.19190	N	0.120458	T	0.21468	0.0517	.	.	.	0.09310	N	1	D	0.54047	0.964	P	0.52672	0.706	T	0.03000	-1.1084	9	0.62326	D	0.03	-3.1412	9.3412	0.38080	0.0:0.0:0.7866:0.2134	.	8	Q8N688	DB123_HUMAN	F	8	ENSP00000365486:L8F	ENSP00000365486:L8F	L	+	3	2	DEFB123	29492186	0.218000	0.23608	0.079000	0.20413	0.947000	0.59692	0.488000	0.22371	1.329000	0.45376	0.655000	0.94253	TTG		0.542	DEFB123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078510.2	NM_153324		147	232	0	0	0	0	147	232				
XKR7	343702	broad.mit.edu	37	20	30584797	30584797	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:30584797C>T	ENST00000562532.2	+	3	1451	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	426						integral component of membrane (GO:0016021)		p.A426V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCCAGCTTTGCGCTGGGCATA	0.582																																						uc002wxe.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|breast(1)|skin(1)	3						c.(1276-1278)GCG>GTG		XK, Kell blood group complex subunit-related							103.0	97.0	99.0					20																	30584797		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30584797C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1277C>T	20.37:g.30584797C>T	ENSP00000477059:p.Ala426Val						p.A426V	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1451	+			426			Helical; (Potential).		Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.1277C>T	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845904	0.51164	.	.	ENSG00000101321	ENST00000217299	T	0.62498	0.02	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	L	0.38649	1.16	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.60530	-0.7245	10	0.02654	T	1	.	18.1135	0.89543	0.0:1.0:0.0:0.0	.	426	Q5GH72	XKR7_HUMAN	V	426	ENSP00000217299:A426V	ENSP00000217299:A426V	A	+	2	0	XKR7	30048458	1.000000	0.71417	0.758000	0.31321	0.842000	0.47809	4.977000	0.63792	2.518000	0.84900	0.561000	0.74099	GCG		0.582	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		39	40	0	0	0	0	39	40				
CDK5RAP1	51654	broad.mit.edu	37	20	31980046	31980046	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:31980046T>C	ENST00000357886.4	-	5	599	c.446A>G	c.(445-447)gAg>gGg	p.E149G	CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.E149G|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.E149G|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.E149G|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.E59G|CDK5RAP1_ENST00000477105.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	149	CDK5 activation inhibition.|MTTase N-terminal.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTCAGCCTTCTCCCTAGAGAG	0.478																																						uc010gek.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(445-447)GAG>GGG		CDK5 regulatory subunit associated protein 1							61.0	62.0	62.0					20																	31980046		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31980046T>C	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.446A>G	20.37:g.31980046T>C	ENSP00000350558:p.Glu149Gly					CDK5RAP1_uc002wyy.2_Missense_Mutation_p.E59G|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.E149G|CDK5RAP1_uc002wza.2_Missense_Mutation_p.E149G|CDK5RAP1_uc010gel.2_Missense_Mutation_p.E58G|CDK5RAP1_uc010gem.2_Missense_Mutation_p.E149G|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.E149G|CDK5RAP1_uc010gen.2_Missense_Mutation_p.E149G	p.E149G	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN			5	570	-			149			MTTase N-terminal.|CDK5 activation inhibition.		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.446A>G		.	.	.	.	.	.	.	.	.	.	T	24.4	4.531856	0.85706	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.	.	.	5.19	5.19	0.71726	Methylthiotransferase, N-terminal (2);	0.046800	0.85682	D	0.000000	D	0.84070	0.5391	M	0.90650	3.135	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.996;0.996;0.996;0.995;0.99	D;D;D;D;D;D;P	0.85130	0.987;0.997;0.967;0.955;0.978;0.925;0.856	D	0.87290	0.2298	9	0.87932	D	0	-24.4369	13.0306	0.58840	0.0:0.0:0.0:1.0	.	149;149;149;149;149;149;59	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	G	149;149;149;59;39;149	.	ENSP00000341840:E149G	E	-	2	0	CDK5RAP1	31443707	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.312000	0.78968	2.182000	0.69389	0.482000	0.46254	GAG		0.478	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		4	86	0	0	0	0	4	86				
RPN2	6185	broad.mit.edu	37	20	35852325	35852326	+	Missense_Mutation	DNP	TC	TC	GT	rs373623696		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:35852325_35852326TC>GT	ENST00000237530.6	+	10	1448_1449	c.1137_1138TC>GT	c.(1135-1140)gaTCtt>gaGTtt	p.379_380DL>EF	RPN2_ENST00000373622.5_Missense_Mutation_p.347_348DL>EF	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	379					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CAAATGTTGATCTTTCCACCGT	0.49																																						uc002xgp.2		NA																	0				ovary(2)|skin(1)	3						c.(1135-1140)GATCTT>GAGTTT		ribophorin II isoform 1 precursor																																				SO:0001583	missense	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35852325_35852326TC>GT	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	Exception_encountered	20.37:g.35852325_35852326delinsGT	ENSP00000237530:p.D379_L380delinsEF					RPN2_uc002xgo.3_Missense_Mutation_p.379_380DL>EF|RPN2_uc010gfw.2_Missense_Mutation_p.222_223DL>EF|RPN2_uc002xgq.2_Missense_Mutation_p.347_348DL>EF	p.379_380DL>EF	NM_002951	NP_002942	P04844	RPN2_HUMAN			10	1441_1442	+		Myeloproliferative disorder(115;0.00878)	379_380			Lumenal (Potential).		Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	DNP	ENST00000237530.6	37	c.1137_1138TC>GT	CCDS13291.1																																																																																				0.490	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		3	66	0	0	0	0	3	66				
SRC	6714	broad.mit.edu	37	20	36012655	36012655	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:36012655C>T	ENST00000373578.2	+	4	448	c.99C>T	c.(97-99)ccC>ccT	p.P33P	SRC_ENST00000373567.2_Silent_p.P33P|SRC_ENST00000358208.4_Silent_p.P33P|SRC_ENST00000360723.4_Silent_p.P33P|SRC_ENST00000373558.2_Silent_p.P33P|SRC_ENST00000445403.1_Silent_p.P33P	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	33					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	GCGCTTTCCCCGCCTCGCAGA	0.751																																						uc002xgx.2		NA																	0				large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13						c.(97-99)CCC>CCT		proto-oncogene tyrosine-protein kinase SRC	Dasatinib(DB01254)						7.0	10.0	9.0					20																	36012655		1889	3978	5867	SO:0001819	synonymous_variant	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36012655C>T	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.99C>T	20.37:g.36012655C>T						SRC_uc002xgy.2_Silent_p.P33P	p.P33P	NM_005417	NP_005408	P12931	SRC_HUMAN			4	548	+		Myeloproliferative disorder(115;0.00878)	33					E1P5V4|Q76P87|Q86VB9|Q9H5A8	Silent	SNP	ENST00000373578.2	37	c.99C>T	CCDS13294.1																																																																																				0.751	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		11	6	0	0	0	0	11	6				
ELMO2	63916	broad.mit.edu	37	20	45003021	45003021	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:45003021G>A	ENST00000290246.6	-	15	1423	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V	ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000439931.2_Missense_Mutation_p.A422V|ELMO2_ENST00000396391.1_Missense_Mutation_p.A410V|ELMO2_ENST00000372176.1_Missense_Mutation_p.A322V|ELMO2_ENST00000352077.2_Missense_Mutation_p.A408V|ELMO2_ENST00000454865.2_Missense_Mutation_p.A142V|ELMO2_ENST00000445496.2_Missense_Mutation_p.A227V	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	410	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GAGCTCAATGGCACTGCGGCC	0.512																																						uc002xrt.1		NA																	0				ovary(1)	1						c.(1228-1230)GCC>GTC		engulfment and cell motility 2							112.0	104.0	107.0					20																	45003021		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45003021G>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1229C>T	20.37:g.45003021G>A	ENSP00000290246:p.Ala410Val					ELMO2_uc010zxq.1_Missense_Mutation_p.A142V|ELMO2_uc002xrs.1_Missense_Mutation_p.A157V|ELMO2_uc002xru.1_Missense_Mutation_p.A410V|ELMO2_uc010zxr.1_Missense_Mutation_p.A422V|ELMO2_uc010zxs.1_Missense_Mutation_p.A227V|ELMO2_uc002xrv.1_Missense_Mutation_p.A129V|ELMO2_uc002xrw.2_Missense_Mutation_p.A227V	p.A410V	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN			15	1439	-		Myeloproliferative disorder(115;0.0122)	410			ELMO.		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.1229C>T	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564561	0.86439	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077;ENST00000425546	T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.9	3.93	0.45458	Engulfment/cell motility, ELMO (2);	0.048915	0.85682	D	0.000000	T	0.40862	0.1134	L	0.46157	1.445	0.58432	D	0.999999	P;P;P;B;P	0.42296	0.775;0.635;0.589;0.436;0.763	P;B;B;B;P	0.51297	0.665;0.314;0.309;0.41;0.507	T	0.38134	-0.9675	10	0.87932	D	0	-23.1335	14.3771	0.66886	0.0:0.1488:0.8512:0.0	.	422;142;410;227;410	B4DRL5;B4DZ20;E9PBG2;B7Z1S8;Q96JJ3	.;.;.;.;ELMO2_HUMAN	V	410;322;410;422;227;142;408;198	ENSP00000290246:A410V;ENSP00000361249:A322V;ENSP00000379673:A410V;ENSP00000396519:A422V;ENSP00000409920:A227V;ENSP00000415641:A142V;ENSP00000326172:A408V;ENSP00000388962:A198V	ENSP00000290246:A410V	A	-	2	0	ELMO2	44436428	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	5.270000	0.65547	1.255000	0.44051	0.561000	0.74099	GCC		0.512	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		36	45	0	0	0	0	36	45				
TOMM70A	9868	broad.mit.edu	37	3	100093900	100093900	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:100093900C>T	ENST00000284320.5	-	7	1637	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	397					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TTCTGAGGATCGATGTCAGCA	0.443																																						uc003dtw.2		NA																	0				ovary(1)	1						c.(1189-1191)GAT>AAT		translocase of outer mitochondrial membrane 70							134.0	124.0	127.0					3																	100093900		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100093900C>T	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1189G>A	3.37:g.100093900C>T	ENSP00000284320:p.Asp397Asn						p.D397N	NM_014820	NP_055635	O94826	TOM70_HUMAN			7	1621	-			397			Cytoplasmic (Potential).|TPR 5.		D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.1189G>A	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128791	0.77549	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.60797	0.16	5.76	4.88	0.63580	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	N	0.16833	0.445	0.80722	D	1	D	0.63046	0.992	P	0.51016	0.656	T	0.37686	-0.9695	10	0.09590	T	0.72	-18.7451	14.5279	0.67902	0.0:0.9301:0.0:0.0699	.	397	O94826	TOM70_HUMAN	N	397;290	ENSP00000284320:D397N	ENSP00000284320:D397N	D	-	1	0	TOMM70A	101576590	1.000000	0.71417	0.700000	0.30305	0.906000	0.53458	7.432000	0.80349	1.436000	0.47453	0.561000	0.74099	GAT		0.443	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			47	84	0	0	0	0	47	84				
LNP1	348801	broad.mit.edu	37	3	100170729	100170729	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:100170729T>C	ENST00000383693.3	+	3	1603	c.323T>C	c.(322-324)aTt>aCt	p.I108T	LNP1_ENST00000489752.1_Missense_Mutation_p.I121T	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	108										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						CATTCCAAAATTGAGAAATTT	0.428																																						uc003dtx.3		NA																	0					0						c.(322-324)ATT>ACT		leukemia NUP98 fusion partner 1							100.0	93.0	95.0					3																	100170729		1829	4083	5912	SO:0001583	missense	348801							g.chr3:100170729T>C		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.323T>C	3.37:g.100170729T>C	ENSP00000373191:p.Ile108Thr					LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	p.I108T	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN			3	1603	+			108					B7ZLT3	Missense_Mutation	SNP	ENST00000383693.3	37	c.323T>C	CCDS43120.1	.	.	.	.	.	.	.	.	.	.	T	6.577	0.474822	0.12521	.	.	ENSG00000206535	ENST00000383693;ENST00000489752	.	.	.	5.32	1.48	0.22813	.	0.509183	0.19021	N	0.124832	T	0.26412	0.0645	L	0.27053	0.805	0.26904	N	0.967047	B	0.19331	0.035	B	0.23275	0.045	T	0.19224	-1.0312	9	0.72032	D	0.01	-41.7882	4.9439	0.13980	0.0:0.1671:0.1568:0.6761	.	108	A1A4G5	LNP1_HUMAN	T	108;121	.	ENSP00000373191:I108T	I	+	2	0	LNP1	101653419	0.063000	0.20901	0.140000	0.22221	0.116000	0.19942	0.356000	0.20181	0.027000	0.15297	0.378000	0.23410	ATT		0.428	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			82	39	0	0	0	0	82	39				
TMEM45A	55076	broad.mit.edu	37	3	100275788	100275788	+	Silent	SNP	A	A	G	rs544008446		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:100275788A>G	ENST00000323523.4	+	3	688	c.375A>G	c.(373-375)ttA>ttG	p.L125L	TMEM45A_ENST00000462884.1_3'UTR|TMEM45A_ENST00000403410.1_Silent_p.L141L	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	125						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TAACCAAGTTAATGTTGTCAA	0.378																																						uc003dtz.1		NA																	0				skin(2)|ovary(1)	3						c.(373-375)TTA>TTG		transmembrane protein 45A							248.0	220.0	229.0					3																	100275788		2203	4300	6503	SO:0001819	synonymous_variant	55076					integral to membrane		g.chr3:100275788A>G	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.375A>G	3.37:g.100275788A>G						TMEM45A_uc003dua.1_Silent_p.L141L	p.L125L	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN			3	688	+			125					Q53YW5	Silent	SNP	ENST00000323523.4	37	c.375A>G	CCDS2937.1																																																																																				0.378	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		12	240	0	0	0	0	12	240				
U2SURP	23350	broad.mit.edu	37	3	142740399	142740399	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:142740399T>C	ENST00000473835.2	+	10	942		c.e10+2		U2SURP_ENST00000493598.2_Splice_Site|U2SURP_ENST00000397933.2_Splice_Site	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AATCCACAGGTAATATTAAGT	0.343																																						uc003evh.1		NA																	0					0						c.e10+2		U2-associated SR140 protein							56.0	52.0	53.0					3																	142740399		1836	4082	5918	SO:0001630	splice_region_variant	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142740399T>C	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.852+2T>C	3.37:g.142740399T>C						SR140_uc003evi.1_Splice_Site|SR140_uc011bnj.1_Splice_Site_p.Q284_splice|SR140_uc003evj.1_Splice_Site|SR140_uc003evk.1_Splice_Site_p.Q283_splice	p.Q284_splice	NM_001080415	NP_001073884	O15042	SR140_HUMAN			10	951	+								A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Splice_Site	SNP	ENST00000473835.2	37	c.852_splice	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.238672	0.58995	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7038	0.77563	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	U2SURP	144223089	1.000000	0.71417	0.997000	0.53966	0.570000	0.35934	7.499000	0.81566	2.105000	0.64084	0.383000	0.25322	.		0.343	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	Intron	8	37	0	0	0	0	8	37				
SUCNR1	56670	broad.mit.edu	37	3	151597696	151597696	+	Splice_Site	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:151597696G>A	ENST00000362032.5	+	2	120		c.e2+1		RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGGGATCATGGTATGTTTAGA	0.343																																						uc003ezf.1		NA																	0				ovary(1)	1						c.e2+1		succinate receptor 1	Succinic acid(DB00139)						120.0	121.0	121.0					3																	151597696		2203	4300	6503	SO:0001630	splice_region_variant	56670					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151597696G>A	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.15+1G>A	3.37:g.151597696G>A							p.M5_splice	NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		2	114	+								A8K305|Q8TDQ8	Splice_Site	SNP	ENST00000362032.5	37	c.15_splice	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	G	5.623	0.299687	0.10622	.	.	ENSG00000198829	ENST00000362032	.	.	.	2.04	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.29687	N	0.841238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6407	0.28292	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUCNR1	153080386	0.002000	0.14202	0.008000	0.14137	0.014000	0.08584	0.898000	0.28404	1.480000	0.48289	0.563000	0.77884	.		0.343	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050	Intron	28	65	0	0	0	0	28	65				
MFSD1	64747	broad.mit.edu	37	3	158539427	158539427	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:158539427C>A	ENST00000264266.8	+	10	967	c.905C>A	c.(904-906)gCa>gAa	p.A302E	MFSD1_ENST00000392813.4_Missense_Mutation_p.A312E|MFSD1_ENST00000415822.2_Missense_Mutation_p.A351E			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	302					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCCCAGGCAGCAAGTGCAATT	0.294																																					Pancreas(62;1186 1654 36636 37908)	uc003fcl.1		NA																	0					0						c.(904-906)GCA>GAA		major facilitator superfamily domain containing							56.0	63.0	60.0					3																	158539427		2189	4298	6487	SO:0001583	missense	64747				transmembrane transport	integral to membrane		g.chr3:158539427C>A	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.905C>A	3.37:g.158539427C>A	ENSP00000264266:p.Ala302Glu					MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.A205E|MFSD1_uc011bow.1_Missense_Mutation_p.A263E|MFSD1_uc011box.1_Missense_Mutation_p.A229E	p.A302E	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		10	935	+			302					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37	c.905C>A		.	.	.	.	.	.	.	.	.	.	C	26.6	4.751476	0.89753	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159	T;D;T	0.83673	-0.07;-1.75;-0.07	5.46	5.46	0.80206	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.217978	0.47093	D	0.000256	D	0.93239	0.7846	M	0.92317	3.295	0.80722	D	1	D;D	0.63046	0.992;0.973	D;P	0.68483	0.958;0.903	D	0.94541	0.7745	10	0.87932	D	0	.	18.9102	0.92481	0.0:1.0:0.0:0.0	.	312;302	C9JS94;Q9H3U5	.;MFSD1_HUMAN	E	351;312;302;226	ENSP00000403117:A351E;ENSP00000376560:A312E;ENSP00000264266:A302E	ENSP00000264266:A302E	A	+	2	0	MFSD1	160022121	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.145000	0.64839	2.549000	0.85964	0.655000	0.94253	GCA		0.294	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		12	129	1	0	1.57e-10	1.91e-10	12	129				
NLGN1	22871	broad.mit.edu	37	3	173322668	173322668	+	Missense_Mutation	SNP	C	C	G	rs374685079		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:173322668C>G	ENST00000457714.1	+	3	709	c.280C>G	c.(280-282)Cgt>Ggt	p.R94G	NLGN1_ENST00000361589.4_Missense_Mutation_p.R94G|NLGN1_ENST00000401917.3_Missense_Mutation_p.R94G|NLGN1_ENST00000545397.1_Missense_Mutation_p.R94G	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	94					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGGGGAACGTCGTTTTCAGCC	0.453																																						uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(280-282)CGT>GGT		neuroligin 1							131.0	130.0	130.0					3																	173322668		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322668C>G	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.280C>G	3.37:g.173322668C>G	ENSP00000392500:p.Arg94Gly					NLGN1_uc010hww.1_Missense_Mutation_p.R94G|NLGN1_uc003fip.1_Missense_Mutation_p.R94G	p.R94G	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	703	+	Ovarian(172;0.0025)		94			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.280C>G	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014702	0.75161	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	D;D;D;D;D	0.82984	-1.6;-1.6;-1.67;-1.6;-1.6	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	H	0.99425	4.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97355	0.9966	10	0.87932	D	0	.	20.0185	0.97487	0.0:1.0:0.0:0.0	.	94;94	D2X2H5;Q8N2Q7-2	.;.	G	94	ENSP00000392500:R94G;ENSP00000354541:R94G;ENSP00000410374:R94G;ENSP00000441108:R94G;ENSP00000385750:R94G	ENSP00000354541:R94G	R	+	1	0	NLGN1	174805362	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.445000	0.80570	2.809000	0.96659	0.467000	0.42956	CGT		0.453	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		5	251	0	0	0	0	5	251				
KCNMB2	10242	broad.mit.edu	37	3	178546115	178546115	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:178546115A>G	ENST00000432997.1	+	4	729	c.377A>G	c.(376-378)aAg>aGg	p.K126R	RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.K126R|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.K126R|KCNMB2_ENST00000358316.3_Missense_Mutation_p.K126R|RP11-385J1.2_ENST00000432385.1_RNA	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	138					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	TCCGGGGAAAAGCTCCTCCTC	0.478																																						uc003fjd.2		NA																	0				ovary(1)	1						c.(376-378)AAG>AGG		calcium-activated potassium channel beta 2							77.0	68.0	71.0					3																	178546115		2203	4300	6503	SO:0001583	missense	10242				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr3:178546115A>G	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.377A>G	3.37:g.178546115A>G	ENSP00000407592:p.Lys126Arg					uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.K126R|KCNMB2_uc003fjf.2_Missense_Mutation_p.K126R|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_Intron	p.K126R	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		4	720	+	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		126			Extracellular (Potential).		B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	37	c.377A>G	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211001	0.39102	.	.	ENSG00000197584	ENST00000437510;ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97	5.99	2.15	0.27550	.	0.202105	0.52532	N	0.000075	T	0.06005	0.0156	N	0.16266	0.395	0.27271	N	0.958377	B	0.02656	0.0	B	0.04013	0.001	T	0.39643	-0.9604	10	0.15066	T	0.55	-19.1163	10.4465	0.44497	0.8104:0.0:0.1896:0.0	.	126	Q9Y691	KCMB2_HUMAN	R	126;126;126;126;126;107	ENSP00000395807:K126R;ENSP00000408252:K126R;ENSP00000397483:K126R;ENSP00000407592:K126R;ENSP00000351068:K126R	ENSP00000351068:K126R	K	+	2	0	KCNMB2	180028809	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.053000	0.41326	0.474000	0.27392	0.533000	0.62120	AAG		0.478	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		22	41	0	0	0	0	22	41				
PEX5L	51555	broad.mit.edu	37	3	179615940	179615940	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:179615940A>C	ENST00000467460.1	-	3	518	c.188T>G	c.(187-189)aTg>aGg	p.M63R	PEX5L_ENST00000464614.1_Missense_Mutation_p.M20R|PEX5L_ENST00000472994.1_Intron|PEX5L_ENST00000465751.1_Missense_Mutation_p.M39R|PEX5L-AS2_ENST00000462801.1_RNA|PEX5L_ENST00000468741.1_Intron|PEX5L_ENST00000392649.3_Missense_Mutation_p.M20R|PEX5L_ENST00000485199.1_Intron|PEX5L_ENST00000263962.8_Missense_Mutation_p.M61R|PEX5L_ENST00000476138.1_Missense_Mutation_p.M20R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	63					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTGTGATGTCATAGTAAGGAG	0.428																																						uc003fki.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(187-189)ATG>AGG		peroxisomal biogenesis factor 5-like							104.0	99.0	100.0					3																	179615940		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179615940A>C	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.188T>G	3.37:g.179615940A>C	ENSP00000419975:p.Met63Arg					PEX5L_uc011bqd.1_Missense_Mutation_p.M20R|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_Missense_Mutation_p.M20R|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Missense_Mutation_p.M61R|PEX5L_uc011bqg.1_Missense_Mutation_p.M39R|PEX5L_uc011bqh.1_Intron	p.M63R	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		3	318	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		63					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.188T>G	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158616	0.38119	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000382596;ENST00000392649;ENST00000476138;ENST00000464614;ENST00000465751;ENST00000463761	D;D;D;D;D;D	0.89196	-2.38;-2.38;-2.48;-2.34;-2.48;-2.35	5.58	5.58	0.84498	.	0.096122	0.64402	D	0.000001	T	0.81365	0.4807	N	0.19112	0.55	0.53688	D	0.999979	B;B;B;B	0.33073	0.037;0.396;0.045;0.026	B;B;B;B	0.26310	0.012;0.068;0.039;0.017	T	0.82299	-0.0526	10	0.66056	D	0.02	-7.1341	16.0365	0.80635	1.0:0.0:0.0:0.0	.	39;20;61;63	E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4	.;.;.;PEX5R_HUMAN	R	63;61;61;20;20;20;39;87	ENSP00000419975:M63R;ENSP00000263962:M61R;ENSP00000376420:M20R;ENSP00000420555:M20R;ENSP00000417270:M20R;ENSP00000419348:M39R	ENSP00000263962:M61R	M	-	2	0	PEX5L	181098634	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.810000	0.91950	2.250000	0.74265	0.533000	0.62120	ATG		0.428	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		9	123	0	0	0	0	9	123				
HTR3D	200909	broad.mit.edu	37	3	183756634	183756634	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:183756634G>C	ENST00000382489.3	+	8	1236	c.1236G>C	c.(1234-1236)gaG>gaC	p.E412D	HTR3D_ENST00000428798.2_Missense_Mutation_p.E362D|HTR3D_ENST00000334128.2_Missense_Mutation_p.E237D|HTR3D_ENST00000453435.1_Missense_Mutation_p.E191D	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	412					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	GGGAACACGAGGCCCAGAAGC	0.637																																						uc011bqv.1		NA																	0					0						c.(1234-1236)GAG>GAC		5-hydroxytryptamine receptor 3 subunit D isoform							95.0	90.0	92.0					3																	183756634		2203	4300	6503	SO:0001583	missense	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756634G>C	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1236G>C	3.37:g.183756634G>C	ENSP00000371929:p.Glu412Asp					HTR3D_uc003fmj.2_Missense_Mutation_p.E237D|HTR3D_uc011bqu.1_Missense_Mutation_p.E362D|HTR3D_uc010hxp.2_Missense_Mutation_p.E191D	p.E412D	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		8	1236	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		412			Cytoplasmic (Potential).		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.1236G>C	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590976	0.46214	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	3.91	-1.21	0.09524	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.896444	0.09393	N	0.808247	D	0.84584	0.5504	M	0.68317	2.08	0.09310	N	1	D;D;P;D	0.58620	0.971;0.983;0.835;0.983	P;P;P;P	0.62298	0.9;0.857;0.648;0.652	T	0.73206	-0.4056	10	0.48119	T	0.1	-15.3398	7.529	0.27672	0.5223:0.0:0.4777:0.0	.	412;237;191;237	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	D	237;362;412;191	ENSP00000334315:E237D;ENSP00000405409:E362D;ENSP00000371929:E412D;ENSP00000389268:E191D	ENSP00000334315:E237D	E	+	3	2	HTR3D	185239328	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.960000	0.03849	-0.420000	0.07427	0.563000	0.77884	GAG		0.637	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		42	115	0	0	0	0	42	115				
HRG	3273	broad.mit.edu	37	3	186386805	186386805	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:186386805T>C	ENST00000232003.4	+	2	345	c.265T>C	c.(265-267)Tgt>Cgt	p.C89R		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	89	Cystatin 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTGGAATGACTGTGAGCCACC	0.413																																						uc003fqq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(265-267)TGT>CGT		histidine-rich glycoprotein precursor							121.0	120.0	120.0					3																	186386805		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186386805T>C		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.265T>C	3.37:g.186386805T>C	ENSP00000232003:p.Cys89Arg						p.C89R	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	2	288	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		89			Cystatin 1.		B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.265T>C	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.318255	0.23994	.	.	ENSG00000113905	ENST00000232003	T	0.77098	-1.07	4.4	3.22	0.36961	Proteinase inhibitor I25, cystatin (2);	0.000000	0.53938	D	0.000042	D	0.88325	0.6406	M	0.91090	3.175	0.50632	D	0.999881	D	0.89917	1.0	D	0.73708	0.981	D	0.87995	0.2752	10	0.87932	D	0	-7.9881	8.5218	0.33279	0.0:0.0:0.1961:0.8039	.	89	P04196	HRG_HUMAN	R	89	ENSP00000232003:C89R	ENSP00000232003:C89R	C	+	1	0	HRG	187869499	0.992000	0.36948	0.194000	0.23346	0.008000	0.06430	2.515000	0.45512	0.771000	0.33359	0.533000	0.62120	TGT		0.413	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		4	137	0	0	0	0	4	137				
RFC1	5981	broad.mit.edu	37	4	39290414	39290414	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:39290414G>A	ENST00000381897.1	-	25	3547	c.3414C>T	c.(3412-3414)ccC>ccT	p.P1138P	RFC1_ENST00000349703.2_Silent_p.P1137P	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1138					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTCCTTTTCTGGGCTCCTTAT	0.378																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(3412-3414)CCC>CCT		replication factor C large subunit							111.0	118.0	116.0					4																	39290414		2203	4299	6502	SO:0001819	synonymous_variant	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39290414G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.3414C>T	4.37:g.39290414G>A						RFC1_uc003gtx.1_Silent_p.P1137P	p.P1138P	NM_002913	NP_002904	P35251	RFC1_HUMAN			25	3548	-			1138					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Silent	SNP	ENST00000381897.1	37	c.3414C>T	CCDS56329.1																																																																																				0.378	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		26	12	0	0	0	0	26	12				
ATP8A1	10396	broad.mit.edu	37	4	42524198	42524198	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:42524198C>G	ENST00000381668.5	-	22	2157	c.1926G>C	c.(1924-1926)gaG>gaC	p.E642D	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E627D	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	642					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACTCATAACTCTCTTCGAGTT	0.433																																						uc003gwr.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1924-1926)GAG>GAC		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						86.0	70.0	76.0					4																	42524198		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42524198C>G	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1926G>C	4.37:g.42524198C>G	ENSP00000371084:p.Glu642Asp					ATP8A1_uc003gws.2_Missense_Mutation_p.E627D	p.E642D	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			22	2158	-			642			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1926G>C	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	3.757	-0.050410	0.07407	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.80824	-1.42;-1.42	5.54	4.7	0.59300	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	L	0.39514	1.22	0.80722	D	1	B;B	0.28470	0.213;0.024	B;B	0.41036	0.346;0.075	T	0.65660	-0.6114	10	0.11485	T	0.65	.	9.0323	0.36267	0.0:0.7796:0.0:0.2204	.	627;642	Q32M35;Q9Y2Q0	.;AT8A1_HUMAN	D	642;627	ENSP00000371084:E642D;ENSP00000264449:E627D	ENSP00000264449:E627D	E	-	3	2	ATP8A1	42218955	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	2.003000	0.40844	1.462000	0.47948	0.650000	0.86243	GAG		0.433	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		87	13	0	0	0	0	87	13				
NFXL1	152518	broad.mit.edu	37	4	47853112	47853112	+	Splice_Site	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:47853112C>A	ENST00000507489.1	-	22	2738	c.2562G>T	c.(2560-2562)caG>caT	p.Q854H	NFXL1_ENST00000381538.3_Splice_Site_p.Q854H	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	854						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GTTTGGTTACCTGTTGTCTTC	0.353																																						uc010igh.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(2560-2562)CAG>CAT		nuclear transcription factor, X-box binding-like							234.0	201.0	212.0					4																	47853112		2203	4299	6502	SO:0001630	splice_region_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47853112C>A	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2562+1G>T	4.37:g.47853112C>A						NFXL1_uc003gxo.2_Missense_Mutation_p.Q179H|NFXL1_uc003gxp.2_Missense_Mutation_p.Q854H|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.Q854H	p.Q854H	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			22	2739	-			854			Potential.		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	c.2562G>T	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274239	0.80580	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.24723	1.84;1.84	5.35	5.35	0.76521	.	0.069520	0.64402	D	0.000019	T	0.49541	0.1563	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.47195	-0.9136	10	0.59425	D	0.04	-12.3499	19.034	0.92970	0.0:1.0:0.0:0.0	.	854	Q6ZNB6	NFXL1_HUMAN	H	854	ENSP00000370949:Q854H;ENSP00000422037:Q854H	ENSP00000370949:Q854H	Q	-	3	2	NFXL1	47547869	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	5.510000	0.67018	2.662000	0.90505	0.563000	0.77884	CAG		0.353	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995	Missense_Mutation	8	21	1	0	0.000978159	0.00108398	8	21				
POLR2B	5431	broad.mit.edu	37	4	57852522	57852522	+	Missense_Mutation	SNP	A	A	G	rs568324163		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:57852522A>G	ENST00000381227.1	+	3	435	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	POLR2B_ENST00000314595.5_Missense_Mutation_p.M8V|POLR2B_ENST00000441246.2_Start_Codon_SNP_p.M1V|POLR2B_ENST00000431623.2_5'UTR			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	8					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTTACAGATATGCAATATGA	0.358																																						uc003hcl.1		NA																	0				ovary(2)	2						c.(22-24)ATG>GTG		DNA directed RNA polymerase II polypeptide B							127.0	125.0	126.0					4																	57852522		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57852522A>G		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.22A>G	4.37:g.57852522A>G	ENSP00000370625:p.Met8Val					POLR2B_uc011cae.1_Missense_Mutation_p.M1V|POLR2B_uc011caf.1_Translation_Start_Site	p.M8V	NM_000938	NP_000929	P30876	RPB2_HUMAN			2	65	+	Glioma(25;0.08)|all_neural(26;0.181)		8					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.22A>G	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.411101	0.42817	.	.	ENSG00000047315	ENST00000450656;ENST00000381227;ENST00000441246;ENST00000433463;ENST00000314595	T;T;T	0.75821	-0.97;-0.92;-0.97	5.5	5.5	0.81552	.	0.174405	0.64402	D	0.000011	T	0.55194	0.1905	N	0.08118	0	0.44908	D	0.997929	B	0.02656	0.0	B	0.01281	0.0	T	0.52185	-0.8609	10	0.18710	T	0.47	.	15.2672	0.73672	1.0:0.0:0.0:0.0	.	8	P30876	RPB2_HUMAN	V	8;8;1;1;8	ENSP00000370625:M8V;ENSP00000391452:M1V;ENSP00000312735:M8V	ENSP00000312735:M8V	M	+	1	0	POLR2B	57547279	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.026000	0.70873	2.082000	0.62665	0.477000	0.44152	ATG		0.358	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		38	23	0	0	0	0	38	23				
TECRL	253017	broad.mit.edu	37	4	65175550	65175550	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:65175550C>T	ENST00000381210.3	-	6	761	c.651G>A	c.(649-651)ttG>ttA	p.L217L	TECRL_ENST00000507440.1_Silent_p.L217L|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	217					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						TCACCATTATCAAATTTTTCA	0.338																																						uc003hcv.2		NA																	0					0						c.(649-651)TTG>TTA		steroid 5 alpha-reductase 2-like 2							98.0	104.0	102.0					4																	65175550		2203	4300	6503	SO:0001819	synonymous_variant	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65175550C>T	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.651G>A	4.37:g.65175550C>T						TECRL_uc003hcw.2_Silent_p.L217L	p.L217L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			6	760	-			217			Helical; (Potential).			Silent	SNP	ENST00000381210.3	37	c.651G>A	CCDS33990.1																																																																																				0.338	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		18	56	0	0	0	0	18	56				
C5orf38	153571	broad.mit.edu	37	5	2752514	2752514	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:2752514C>T	ENST00000334000.3	+	1	253	c.136C>T	c.(136-138)Cac>Tac	p.H46Y	IRX2_ENST00000302057.5_5'Flank|C5orf38_ENST00000457752.2_Missense_Mutation_p.H46Y|C5orf38_ENST00000397835.4_Missense_Mutation_p.H46Y|C5orf38_ENST00000515640.1_Missense_Mutation_p.H46Y|IRX2_ENST00000382611.6_5'Flank|C5orf38_ENST00000505778.1_Missense_Mutation_p.H46Y|IRX2_ENST00000502957.1_Intron	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	46						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		CCTCGCGGTCCACTCCGCCCA	0.701																																						uc003jdc.2		NA																	0					0						c.(136-138)CAC>TAC		hypothetical protein LOC153571 precursor							14.0	16.0	16.0					5																	2752514		2201	4294	6495	SO:0001583	missense	153571					extracellular region		g.chr5:2752514C>T	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.136C>T	5.37:g.2752514C>T	ENSP00000334267:p.His46Tyr					C5orf38_uc011cmg.1_Missense_Mutation_p.H46Y|C5orf38_uc011cmh.1_RNA|C5orf38_uc011cmi.1_RNA|C5orf38_uc011cmj.1_RNA	p.H46Y	NM_178569	NP_848664	Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	1	253	+			46						Missense_Mutation	SNP	ENST00000334000.3	37	c.136C>T	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	C	0.125	-1.120285	0.01785	.	.	ENSG00000186493	ENST00000457752;ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	2.24	1.32	0.21799	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19778	-1.0295	8	0.87932	D	0	.	4.1929	0.10430	0.0:0.7834:0.0:0.2166	.	46	Q86SI9	CEI_HUMAN	Y	46	.	ENSP00000334267:H46Y	H	+	1	0	C5orf38	2805514	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.265000	0.08644	0.477000	0.27464	0.462000	0.41574	CAC		0.701	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		9	4	0	0	0	0	9	4				
PRDM9	56979	broad.mit.edu	37	5	23526667	23526667	+	Silent	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:23526667A>T	ENST00000296682.3	+	11	1652	c.1470A>T	c.(1468-1470)ggA>ggT	p.G490G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	490					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTAGAGTGGGAAAAAGAATAA	0.443										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1468-1470)GGA>GGT		PR domain containing 9							45.0	45.0	45.0					5																	23526667		2036	4204	6240	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526667A>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1470A>T	5.37:g.23526667A>T		HNSCC(3;0.000094)					p.G490G	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1652	+			490					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1470A>T	CCDS43307.1																																																																																				0.443	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		12	11	0	0	0	0	12	11				
CDH10	1008	broad.mit.edu	37	5	24488021	24488021	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:24488021A>T	ENST00000264463.4	-	12	2625	c.2118T>A	c.(2116-2118)gaT>gaA	p.D706E	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	706					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CGTCCGTGTTATCTGGAGCTG	0.488										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(2116-2118)GAT>GAA		cadherin 10, type 2 preproprotein							78.0	85.0	82.0					5																	24488021		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488021A>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2118T>A	5.37:g.24488021A>T	ENSP00000264463:p.Asp706Glu	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.D706E	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2450	-			706			Cytoplasmic (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2118T>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.733637	0.30684	.	.	ENSG00000040731	ENST00000264463	T	0.75938	-0.98	5.46	-4.24	0.03777	Cadherin, cytoplasmic domain (1);	0.155982	0.56097	D	0.000022	T	0.58278	0.2111	L	0.31294	0.92	0.31948	N	0.609992	B	0.21147	0.052	B	0.20384	0.029	T	0.38045	-0.9679	10	0.23891	T	0.37	.	16.0296	0.80570	0.3909:0.0:0.6091:0.0	.	706	Q9Y6N8	CAD10_HUMAN	E	706	ENSP00000264463:D706E	ENSP00000264463:D706E	D	-	3	2	CDH10	24523778	0.536000	0.26378	0.416000	0.26546	0.985000	0.73830	0.098000	0.15189	-1.128000	0.02922	-0.256000	0.11100	GAT		0.488	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		49	46	0	0	0	0	49	46				
FYB	2533	broad.mit.edu	37	5	39127888	39127888	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:39127888T>C	ENST00000351578.6	-	11	2052	c.1862A>G	c.(1861-1863)gAt>gGt	p.D621G	FYB_ENST00000505428.1_Missense_Mutation_p.D621G|FYB_ENST00000512982.1_Missense_Mutation_p.D621G|FYB_ENST00000540520.1_Missense_Mutation_p.D631G|FYB_ENST00000515010.1_Missense_Mutation_p.D621G	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	621					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AATGTCATCATCTGGTGGTGG	0.323																																						uc003jls.2		NA																	0				ovary(2)	2						c.(1861-1863)GAT>GGT		FYN binding protein (FYB-120/130) isoform 2							109.0	102.0	104.0					5																	39127888		1839	4096	5935	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39127888T>C	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1862A>G	5.37:g.39127888T>C	ENSP00000316460:p.Asp621Gly					FYB_uc003jlt.2_Missense_Mutation_p.D621G|FYB_uc003jlu.2_Missense_Mutation_p.D621G|FYB_uc011cpl.1_Missense_Mutation_p.D631G	p.D621G	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		10	1929	-	all_lung(31;0.000343)		621					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.1862A>G	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.113913	0.37339	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.27256	1.74;1.74;1.68;1.68;1.69	5.34	2.88	0.33553	.	0.311992	0.33813	N	0.004535	T	0.16769	0.0403	L	0.50919	1.6	0.31210	N	0.698773	B;P	0.37781	0.023;0.608	B;B	0.30401	0.011;0.115	T	0.21861	-1.0233	10	0.54805	T	0.06	-10.6761	2.6566	0.05014	0.1292:0.0837:0.2027:0.5843	.	631;621	B4DLN2;O15117	.;FYB_HUMAN	G	621;621;621;621;631;621	ENSP00000316460:D621G;ENSP00000426346:D621G;ENSP00000425845:D621G;ENSP00000427114:D621G;ENSP00000442840:D631G	ENSP00000316460:D621G	D	-	2	0	FYB	39163645	0.997000	0.39634	0.991000	0.47740	0.989000	0.77384	1.345000	0.33953	0.399000	0.25367	0.477000	0.44152	GAT		0.323	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		13	18	0	0	0	0	13	18				
CHSY3	337876	broad.mit.edu	37	5	129520027	129520027	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:129520027A>G	ENST00000305031.4	+	3	1550	c.1192A>G	c.(1192-1194)Agg>Ggg	p.R398G	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	398					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCCCAACAAAAGGCCTGCATA	0.448																																						uc003kvd.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1192-1194)AGG>GGG		chondroitin sulfate synthase 3							110.0	102.0	105.0					5																	129520027		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520027A>G	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1192A>G	5.37:g.129520027A>G	ENSP00000302629:p.Arg398Gly						p.R398G	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1192	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	398			Lumenal (Potential).		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1192A>G	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.721978	0.30503	.	.	ENSG00000198108	ENST00000305031	T	0.15718	2.4	4.46	1.99	0.26369	.	0.096496	0.45126	D	0.000385	T	0.13200	0.0320	L	0.37630	1.12	0.38021	D	0.934859	B	0.18166	0.026	B	0.21708	0.036	T	0.13415	-1.0510	9	.	.	.	-0.5409	11.8216	0.52242	0.7217:0.2783:0.0:0.0	.	398	Q70JA7	CHSS3_HUMAN	G	398	ENSP00000302629:R398G	.	R	+	1	2	CHSY3	129547926	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.812000	0.55628	0.444000	0.26612	-0.331000	0.08364	AGG		0.448	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		3	56	0	0	0	0	3	56				
PCDHA7	56141	broad.mit.edu	37	5	140215088	140215088	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:140215088G>A	ENST00000525929.1	+	1	1120	c.1120G>A	c.(1120-1122)Gtg>Atg	p.V374M	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.V374M|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGATTAGCGTGTTTGACCG	0.493																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(1120-1122)GTG>ATG		protocadherin alpha 7 isoform 1 precursor							165.0	156.0	159.0					5																	140215088		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215088G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1120G>A	5.37:g.140215088G>A	ENSP00000436426:p.Val374Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.V374M	p.V374M	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1120	+			374			Cadherin 4.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1120G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	9.445	1.089135	0.20390	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.55413	0.52;0.52	4.04	4.04	0.47022	Cadherin (4);Cadherin-like (1);	0.000000	0.29080	U	0.013218	T	0.75361	0.3839	M	0.93241	3.395	0.22591	N	0.998958	D;D	0.89917	0.999;1.0	D;D	0.72625	0.91;0.978	T	0.68194	-0.5473	10	0.87932	D	0	.	8.0245	0.30430	0.1858:0.0:0.8142:0.0	.	374;374	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	M	374	ENSP00000436426:V374M;ENSP00000367365:V374M	ENSP00000367365:V374M	V	+	1	0	PCDHA7	140195272	1.000000	0.71417	0.015000	0.15790	0.128000	0.20619	5.532000	0.67154	1.955000	0.56771	0.305000	0.20034	GTG		0.493	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		87	20	0	0	0	0	87	20				
PCDHA13	56136	broad.mit.edu	37	5	140264051	140264051	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:140264051C>T	ENST00000289272.2	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A733V|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	733					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A733V(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGTGCGCGCCGGGCAAG	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2197-2199)GCG>GTG		protocadherin alpha 13 isoform 1 precursor							60.0	65.0	63.0					5																	140264051		2203	4297	6500	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140264051C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2198C>T	5.37:g.140264051C>T	ENSP00000289272:p.Ala733Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A733V|PCDHA13_uc003lid.2_Missense_Mutation_p.A733V	p.A733V	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2198	+			733			Cytoplasmic (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.2198C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	7.326	0.617930	0.14129	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.12672	2.66;2.66	4.61	1.67	0.24075	.	.	.	.	.	T	0.08846	0.0219	L	0.34521	1.04	0.19300	N	0.999975	B;B;B	0.15141	0.003;0.007;0.012	B;B;B	0.10450	0.002;0.004;0.005	T	0.44757	-0.9307	9	0.12103	T	0.63	.	6.4317	0.21801	0.078:0.5151:0.2904:0.1165	.	733;733;733	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	733	ENSP00000386821:A733V;ENSP00000289272:A733V	ENSP00000289272:A733V	A	+	2	0	PCDHA13	140244235	0.091000	0.21658	0.035000	0.18076	0.020000	0.10135	0.810000	0.27183	-0.025000	0.13918	-0.165000	0.13383	GCG		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		57	9	0	0	0	0	57	9				
PCDHGA1	56114	broad.mit.edu	37	5	140710805	140710805	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:140710805G>T	ENST00000517417.1	+	1	554	c.554G>T	c.(553-555)gGa>gTa	p.G185V	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G185V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCAACAGGGAGCCGATGGG	0.527																																						uc003lji.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(553-555)GGA>GTA		protocadherin gamma subfamily A, 1 isoform 1							85.0	82.0	83.0					5																	140710805		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140710805G>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.554G>T	5.37:g.140710805G>T	ENSP00000431083:p.Gly185Val					PCDHGA1_uc011dan.1_Missense_Mutation_p.G185V	p.G185V	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	554	+			185			Extracellular (Potential).|Cadherin 2.		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.554G>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	2.744	-0.261633	0.05791	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.18960	2.18;2.18	4.2	4.2	0.49525	Cadherin (4);Cadherin-like (1);	0.000000	0.48286	D	0.000200	T	0.38427	0.1040	M	0.92459	3.31	0.09310	N	0.999995	B;B	0.33964	0.434;0.044	B;B	0.35727	0.209;0.168	T	0.45629	-0.9248	10	0.48119	T	0.1	.	16.7229	0.85414	0.0:0.0:1.0:0.0	.	185;185	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	185	ENSP00000431083:G185V;ENSP00000367345:G185V	ENSP00000367345:G185V	G	+	2	0	PCDHGA1	140690989	0.000000	0.05858	0.985000	0.45067	0.078000	0.17371	0.588000	0.23924	2.349000	0.79799	0.655000	0.94253	GGA		0.527	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		60	9	1	0	1.14e-29	1.45e-29	60	9				
ABLIM3	22885	broad.mit.edu	37	5	148626086	148626086	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:148626086G>C	ENST00000506113.1	+	16	2010	c.1528G>C	c.(1528-1530)Gat>Cat	p.D510H	AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.D477H|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_5'UTR|ABLIM3_ENST00000309868.7_Missense_Mutation_p.D510H|ABLIM3_ENST00000326685.7_Missense_Mutation_p.D415H|ABLIM3_ENST00000504238.1_Missense_Mutation_p.D399H|ABLIM3_ENST00000356541.3_Missense_Mutation_p.D399H			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	510					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGGATGATTTTGACCG	0.502																																						uc003lpy.2		NA																	0				ovary(2)|skin(1)	3						c.(1528-1530)GAT>CAT		actin binding LIM protein family, member 3							106.0	90.0	96.0					5																	148626086		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148626086G>C	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1528G>C	5.37:g.148626086G>C	ENSP00000425394:p.Asp510His					ABLIM3_uc003lpz.1_Missense_Mutation_p.D510H|ABLIM3_uc003lqa.1_Missense_Mutation_p.D407H|ABLIM3_uc003lqb.2_Missense_Mutation_p.D399H|ABLIM3_uc003lqc.1_Missense_Mutation_p.D477H|ABLIM3_uc003lqd.1_Missense_Mutation_p.D415H|ABLIM3_uc003lqf.2_Missense_Mutation_p.D399H|ABLIM3_uc003lqe.1_Missense_Mutation_p.D399H	p.D510H	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1779	+			510					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1528G>C	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701270	0.68501	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.81	5.81	0.92471	.	0.105527	0.64402	D	0.000002	T	0.44371	0.1290	L	0.39245	1.2	0.42849	D	0.994074	P;P;P	0.49358	0.913;0.923;0.77	P;P;B	0.55923	0.787;0.621;0.423	T	0.11084	-1.0602	10	0.45353	T	0.12	.	19.6888	0.95989	0.0:0.0:1.0:0.0	.	415;399;510	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	H	415;399;510;510;399;477	ENSP00000315841:D415H;ENSP00000348938:D399H;ENSP00000310309:D510H;ENSP00000425394:D510H;ENSP00000421183:D399H;ENSP00000420855:D477H	ENSP00000310309:D510H	D	+	1	0	ABLIM3	148606279	1.000000	0.71417	0.913000	0.36048	0.990000	0.78478	7.763000	0.85283	2.736000	0.93811	0.655000	0.94253	GAT		0.502	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		20	3	0	0	0	0	20	3				
AFAP1L1	134265	broad.mit.edu	37	5	148712312	148712312	+	Missense_Mutation	SNP	G	G	T	rs369805051		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:148712312G>T	ENST00000296721.4	+	17	2128	c.2030G>T	c.(2029-2031)cGg>cTg	p.R677L	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R677L	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	677						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGTGTCGGGCAAAGGAG	0.567																																						uc003lqh.2		NA																	0				breast(1)|pancreas(1)	2						c.(2029-2031)CGG>CTG		actin filament associated protein 1-like 1							38.0	41.0	40.0					5																	148712312		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148712312G>T	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.2030G>T	5.37:g.148712312G>T	ENSP00000296721:p.Arg677Leu					AFAP1L1_uc010jgy.2_Missense_Mutation_p.R677L|AFAP1L1_uc003lqi.1_Missense_Mutation_p.R292L	p.R677L	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	2161	+			677			Potential.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.2030G>T	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219442	0.39201	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.21543	2.05;2.0	5.67	4.8	0.61643	.	0.074124	0.52532	D	0.000068	T	0.36608	0.0973	M	0.65975	2.015	0.40548	D	0.981093	P;P	0.50617	0.937;0.91	P;B	0.57776	0.827;0.41	T	0.18398	-1.0338	10	0.56958	D	0.05	-26.1464	8.8337	0.35100	0.2258:0.0:0.7742:0.0	.	677;677	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	L	677	ENSP00000296721:R677L;ENSP00000424427:R677L	ENSP00000296721:R677L	R	+	2	0	AFAP1L1	148692505	1.000000	0.71417	0.839000	0.33178	0.023000	0.10783	3.337000	0.52120	1.403000	0.46800	0.655000	0.94253	CGG		0.567	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		3	53	1	0	0.00909568	0.00979535	3	53				
RANBP17	64901	broad.mit.edu	37	5	170395247	170395247	+	Splice_Site	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:170395247G>A	ENST00000523189.1	+	14	1740	c.1576G>A	c.(1576-1578)Gtt>Att	p.V526I		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	526					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCATGAAGAGTTTTTCAGCT	0.308			T	TRD@	ALL																																	uc003mba.2		NA		Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				ovary(2)|central_nervous_system(1)	3						c.(1576-1578)GTT>ATT		RAN binding protein 17							67.0	72.0	70.0					5																	170395247		2202	4300	6502	SO:0001630	splice_region_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170395247G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1575-1G>A	5.37:g.170395247G>A						RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA	p.V526I	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		14	1592	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	526					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.1576G>A	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280053	0.80692	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.65364	-0.15	5.37	5.37	0.77165	Armadillo-type fold (1);	0.000000	0.51477	D	0.000088	T	0.67822	0.2934	M	0.81179	2.53	0.43061	D	0.994687	P	0.45768	0.866	B	0.42555	0.391	T	0.73011	-0.4117	10	0.46703	T	0.11	-15.4236	17.2379	0.87005	0.0:0.0:1.0:0.0	.	526	Q9H2T7	RBP17_HUMAN	I	526;422	ENSP00000427975:V526I	ENSP00000373770:V526I	V	+	1	0	RANBP17	170327852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.427000	0.66483	2.672000	0.90937	0.591000	0.81541	GTT		0.308	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	Missense_Mutation	24	9	0	0	0	0	24	9				
STK10	6793	broad.mit.edu	37	5	171583735	171583735	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:171583735C>T	ENST00000176763.5	-	2	557	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCTCCTCCTCACTCTTGGTT	0.547																																						uc003mbo.1		NA																	0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(214-216)GAG>AAG		serine/threonine kinase 10							211.0	153.0	173.0					5																	171583735		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171583735C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.214G>A	5.37:g.171583735C>T	ENSP00000176763:p.Glu72Lys						p.E72K	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	514	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	72			Protein kinase.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.214G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759753	0.89932	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.66099	-0.19	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	N	0.21324	0.655	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.72465	-0.4285	10	0.72032	D	0.01	.	16.9514	0.86246	0.0:1.0:0.0:0.0	.	72	O94804	STK10_HUMAN	K	72	ENSP00000176763:E72K	ENSP00000176763:E72K	E	-	1	0	STK10	171516340	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.786000	0.85741	2.588000	0.87417	0.561000	0.74099	GAG		0.547	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		54	16	0	0	0	0	54	16				
RMND5B	64777	broad.mit.edu	37	5	177574774	177574774	+	Silent	SNP	C	C	T	rs374576631		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:177574774C>T	ENST00000515098.1	+	11	1359	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	RMND5B_ENST00000542098.1_Silent_p.F323F|RMND5B_ENST00000313386.4_Silent_p.F336F			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	336										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCGTGTTCGCTTGCCCCA	0.542																																						uc003mim.2		NA																	0				ovary(1)|skin(1)	2						c.(1006-1008)TTC>TTT		required for meiotic nuclear division 5 homolog		C		0,4406		0,0,2203	190.0	173.0	179.0		1008	-9.9	0.0	5		179	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RMND5B	NM_022762.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		336/394	177574774	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64777							g.chr5:177574774C>T	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.1008C>T	5.37:g.177574774C>T						RMND5B_uc003min.2_Silent_p.F336F|RMND5B_uc003mio.2_Silent_p.F323F|RMND5B_uc003mip.2_Silent_p.F336F|RMND5B_uc011dgf.1_Silent_p.F377F|RMND5B_uc003miq.2_Silent_p.F276F	p.F336F	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1188	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	336					Q1HE27|Q6UVY7|Q9H6F6	Silent	SNP	ENST00000515098.1	37	c.1008C>T	CCDS4431.1																																																																																				0.542	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		75	17	0	0	0	0	75	17				
ADAMTS2	9509	broad.mit.edu	37	5	178552137	178552137	+	Missense_Mutation	SNP	C	C	T	rs140022033	byFrequency	TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:178552137C>T	ENST00000251582.7	-	19	2896	c.2795G>A	c.(2794-2796)cGg>cAg	p.R932Q		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	932	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CATGCCTGTCCGCCCACAGGT	0.667													C|||	2	0.000399361	0.0	0.0	5008	,	,		18675	0.0		0.002	False		,,,				2504	0.0					uc003mjw.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(2794-2796)CGG>CAG		ADAM metallopeptidase with thrombospondin type 1		C	GLN/ARG	0,4406		0,0,2203	101.0	98.0	99.0		2795	4.4	1.0	5	dbSNP_134	99	18,8582	13.3+/-46.6	0,18,4282	yes	missense	ADAMTS2	NM_014244.4	43	0,18,6485	TT,TC,CC		0.2093,0.0,0.1384	benign	932/1212	178552137	18,12988	2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552137C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2795G>A	5.37:g.178552137C>T	ENSP00000251582:p.Arg932Gln						p.R932Q	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2795	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	932			TSP type-1 3.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2795G>A	CCDS4444.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	15.61	2.884701	0.51908	0.0	0.002093	ENSG00000087116	ENST00000251582	T	0.60672	0.17	5.42	4.43	0.53597	.	0.130884	0.33290	N	0.005074	T	0.38374	0.1038	L	0.38838	1.175	0.80722	D	1	P	0.49783	0.928	B	0.38712	0.28	T	0.23368	-1.0190	10	0.32370	T	0.25	.	3.9602	0.09407	0.0:0.6883:0.0:0.3117	.	932	O95450	ATS2_HUMAN	Q	932	ENSP00000251582:R932Q	ENSP00000251582:R932Q	R	-	2	0	ADAMTS2	178484743	0.958000	0.32768	0.998000	0.56505	0.828000	0.46876	2.034000	0.41145	2.538000	0.85594	0.655000	0.94253	CGG		0.667	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		25	54	0	0	0	0	25	54				
RNF182	221687	broad.mit.edu	37	6	13977531	13977531	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:13977531G>T	ENST00000488300.1	+	3	704	c.181G>T	c.(181-183)Gtc>Ttc	p.V61F	RNF182_ENST00000537663.1_Missense_Mutation_p.V61F|RNF182_ENST00000544682.1_Missense_Mutation_p.V61F|RNF182_ENST00000537388.1_Missense_Mutation_p.V61F	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	61					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CCCACAAGGTGTCATTGTCTG	0.473																																						uc003nbe.2		NA																	0				large_intestine(2)|ovary(1)	3						c.(181-183)GTC>TTC		ring finger protein 182							158.0	149.0	152.0					6																	13977531		2203	4300	6503	SO:0001583	missense	221687					cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:13977531G>T	AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.181G>T	6.37:g.13977531G>T	ENSP00000420465:p.Val61Phe					RNF182_uc003nbf.2_Missense_Mutation_p.V61F|RNF182_uc003nbg.2_Missense_Mutation_p.V61F	p.V61F	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	Epithelial(50;0.195)		3	599	+	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	61			RING-type.		B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	c.181G>T	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941130	0.73557	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000420478;ENST00000423553;ENST00000537388	D;D;D;T;D;D	0.92348	-2.01;-2.01;-2.01;-0.3;-3.02;-2.01	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.331149	0.30840	N	0.008778	D	0.92113	0.7500	L	0.33668	1.02	0.58432	D	0.999999	D	0.71674	0.998	D	0.65874	0.939	D	0.90781	0.4679	9	.	.	.	-21.8571	19.4268	0.94743	0.0:0.0:1.0:0.0	.	61	Q8N6D2	RN182_HUMAN	F	61	ENSP00000443228:V61F;ENSP00000420465:V61F;ENSP00000442021:V61F;ENSP00000419329:V61F;ENSP00000418717:V61F;ENSP00000441271:V61F	.	V	+	1	0	RNF182	14085510	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.558000	0.82253	2.600000	0.87896	0.563000	0.77884	GTC		0.473	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737		8	116	1	0	0.00621372	0.00672619	8	116				
HIST1H3C	8352	broad.mit.edu	37	6	26045748	26045748	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:26045748A>T	ENST00000540144.1	+	1	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	37					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGTGGCGTGAAGAAACCTCAT	0.632																																						uc003nfv.2		NA																	0				ovary(1)	1						c.(109-111)AAG>ATG		histone cluster 1, H3c							44.0	47.0	46.0					6																	26045748		2203	4300	6503	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045748A>T	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.110A>T	6.37:g.26045748A>T	ENSP00000439493:p.Lys37Met					HIST1H2BB_uc003nfu.2_5'Flank	p.K37M	NM_003531	NP_003522	P68431	H31_HUMAN			1	110	+			37					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.110A>T	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157156	0.38119	.	.	ENSG00000196532	ENST00000540144	T	0.56776	0.44	4.67	4.67	0.58626	.	.	.	.	.	T	0.58581	0.2132	.	.	.	0.42229	D	0.991889	.	.	.	.	.	.	T	0.65446	-0.6166	6	0.87932	D	0	.	13.9855	0.64331	1.0:0.0:0.0:0.0	.	.	.	.	M	37	ENSP00000439493:K37M	ENSP00000439493:K37M	K	+	2	0	HIST1H3C	26153727	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	6.203000	0.72137	2.045000	0.60652	0.482000	0.46254	AAG		0.632	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		21	40	0	0	0	0	21	40				
HIST1H4G	8369	broad.mit.edu	37	6	26246938	26246938	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:26246938C>T	ENST00000244537.4	-	1	321	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	90						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGTTTGAGCACGTAGACCACG	0.572																																						uc003nhf.2		NA																	0					0						c.(268-270)GTG>ATG		histone cluster 1, H4g							63.0	52.0	56.0					6																	26246938		2203	4300	6503	SO:0001583	missense	8369				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26246938C>T	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"""Histones / Replication-dependent"""	4792	protein-coding gene	gene with protein product		602832	"""H4 histone family, member L"", ""histone 1, H4g"""	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.268G>A	6.37:g.26246938C>T	ENSP00000244537:p.Val90Met						p.V90M	NM_003547	NP_003538	Q99525	H4G_HUMAN			1	268	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	90						Missense_Mutation	SNP	ENST00000244537.4	37	c.268G>A	CCDS4599.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.920440	0.33908	.	.	ENSG00000124578	ENST00000244537	T	0.69306	-0.39	3.05	3.05	0.35203	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.63224	0.2493	.	.	.	0.33475	D	0.586747	D	0.55385	0.971	P	0.51324	0.666	T	0.68507	-0.5390	8	0.87932	D	0	.	14.052	0.64742	0.0:1.0:0.0:0.0	.	90	Q99525	H4G_HUMAN	M	90	ENSP00000244537:V90M	ENSP00000244537:V90M	V	-	1	0	HIST1H4G	26354917	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	7.005000	0.76323	1.686000	0.51046	0.391000	0.25812	GTG		0.572	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547		12	44	0	0	0	0	12	44				
OR2B6	26212	broad.mit.edu	37	6	27925114	27925114	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:27925114G>C	ENST00000244623.1	+	1	96	c.96G>C	c.(94-96)ttG>ttC	p.L32F		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGTCTTCTTGATTTCTTACA	0.418																																						uc011dkx.1		NA																	0				skin(1)	1						c.(94-96)TTG>TTC		olfactory receptor, family 2, subfamily B,							176.0	168.0	171.0					6																	27925114		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925114G>C	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.96G>C	6.37:g.27925114G>C	ENSP00000244623:p.Leu32Phe						p.L32F	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	96	+			32			Helical; Name=1; (Potential).		O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.96G>C	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	g	3.247	-0.154078	0.06585	.	.	ENSG00000124657	ENST00000244623	T	0.01804	4.63	3.77	-0.77	0.11005	.	0.330792	0.16072	N	0.230950	T	0.00724	0.0024	L	0.43757	1.38	0.09310	N	1	B	0.18741	0.03	B	0.23852	0.049	T	0.42378	-0.9455	10	0.44086	T	0.13	.	10.3156	0.43734	0.1126:0.1753:0.7121:0.0	.	32	P58173	OR2B6_HUMAN	F	32	ENSP00000244623:L32F	ENSP00000244623:L32F	L	+	3	2	OR2B6	28033093	0.000000	0.05858	0.002000	0.10522	0.078000	0.17371	-1.968000	0.01507	-0.010000	0.14271	0.557000	0.71058	TTG		0.418	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			9	88	0	0	0	0	9	88				
DNAH8	1769	broad.mit.edu	37	6	38899605	38899605	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:38899605G>A	ENST00000359357.3	+	74	10896	c.10642G>A	c.(10642-10644)Gaa>Aaa	p.E3548K	RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.E3512K|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3765K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3548	AAA 5. {ECO:0000250}.				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						CGGTGATAAGGAATGTGATAT	0.333																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(10642-10644)GAA>AAA		dynein, axonemal, heavy polypeptide 8							149.0	156.0	154.0					6																	38899605		2203	4299	6502	SO:0001583	missense	1769							g.chr6:38899605G>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.10642G>A	6.37:g.38899605G>A	ENSP00000352312:p.Glu3548Lys					DNAH8_uc003oog.1_5'UTR|uc003oof.1_Intron	p.E3548K	NM_001371	NP_001362					74	11242	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10642G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.425913	0.96131	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.31247	1.5;1.5;1.5	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71768	-0.4493	10	0.62326	D	0.03	.	20.2786	0.98501	0.0:0.0:1.0:0.0	.	3548	Q96JB1	DYH8_HUMAN	K	3753;3753;3548;3512	ENSP00000333363:E3753K;ENSP00000352312:E3548K;ENSP00000402294:E3512K	ENSP00000333363:E3753K	E	+	1	0	DNAH8	39007583	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.406000	0.97321	2.868000	0.98415	0.557000	0.71058	GAA		0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		37	107	0	0	0	0	37	107				
TDRD6	221400	broad.mit.edu	37	6	46658979	46658979	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:46658979C>T	ENST00000316081.6	+	1	3114	c.3114C>T	c.(3112-3114)acC>acT	p.T1038T	TDRD6_ENST00000544460.1_Silent_p.T1038T	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1038	Tudor 5. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ACCCTGGAACCTTGTGCCTTG	0.348																																						uc003oyj.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(3112-3114)ACC>ACT		tudor domain containing 6							69.0	73.0	72.0					6																	46658979		2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658979C>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3114C>T	6.37:g.46658979C>T						TDRD6_uc010jze.2_Silent_p.T1032T	p.T1038T	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	3114	+			1038			Tudor 5.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.3114C>T	CCDS34470.1																																																																																				0.348	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		5	63	0	0	0	0	5	63				
MMS22L	253714	broad.mit.edu	37	6	97676903	97676903	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:97676903C>G	ENST00000275053.4	-	14	2171	c.1906G>C	c.(1906-1908)Gag>Cag	p.E636Q	MMS22L_ENST00000369251.2_Missense_Mutation_p.E596Q	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	636					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TAGCTGGTCTCAAACACTTCT	0.398																																						uc003ppb.2		NA																	0					0						c.(1906-1908)GAG>CAG		hypothetical protein LOC253714							156.0	146.0	149.0					6																	97676903		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97676903C>G		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1906G>C	6.37:g.97676903C>G	ENSP00000275053:p.Glu636Gln					C6orf167_uc011eaf.1_Missense_Mutation_p.E596Q	p.E636Q	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	14	2172	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	636					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.1906G>C	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381236	0.82792	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.37411	1.2;1.2	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.55593	0.1930	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.987	T	0.54636	-0.8264	10	0.52906	T	0.07	-5.3891	19.7362	0.96205	0.0:1.0:0.0:0.0	.	596;636	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	Q	636;596	ENSP00000275053:E636Q;ENSP00000358254:E596Q	ENSP00000275053:E636Q	E	-	1	0	MMS22L	97783624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.089000	0.64492	2.678000	0.91216	0.655000	0.94253	GAG		0.398	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		34	36	0	0	0	0	34	36				
MMS22L	253714	broad.mit.edu	37	6	97694537	97694537	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:97694537T>C	ENST00000275053.4	-	11	1414	c.1149A>G	c.(1147-1149)gtA>gtG	p.V383V	MMS22L_ENST00000369251.2_Silent_p.V383V	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	383					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCAGTTCTTCTACAAAGTTCC	0.289																																						uc003ppb.2		NA																	0					0						c.(1147-1149)GTA>GTG		hypothetical protein LOC253714							81.0	80.0	80.0					6																	97694537		2202	4296	6498	SO:0001819	synonymous_variant	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97694537T>C		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1149A>G	6.37:g.97694537T>C						C6orf167_uc011eaf.1_Silent_p.V383V|C6orf167_uc010kcn.1_Silent_p.V157V|C6orf167_uc010kco.1_Silent_p.V119V	p.V383V	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	11	1415	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	383					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	ENST00000275053.4	37	c.1149A>G	CCDS5039.1																																																																																				0.289	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		18	15	0	0	0	0	18	15				
GPR6	2830	broad.mit.edu	37	6	110301053	110301053	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:110301053G>A	ENST00000275169.3	+	1	756	c.738G>A	c.(736-738)gtG>gtA	p.V246V	GPR6_ENST00000414000.2_Silent_p.V261V	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	246					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ACCTGTACGTGCGCATCTGCC	0.687																																						uc011eaw.1		NA																	0					0						c.(736-738)GTG>GTA		G protein-coupled receptor 6							23.0	20.0	21.0					6																	110301053		2199	4292	6491	SO:0001819	synonymous_variant	2830					integral to plasma membrane		g.chr6:110301053G>A		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.738G>A	6.37:g.110301053G>A						GPR6_uc011eav.1_Silent_p.V261V|GPR6_uc003ptu.2_Silent_p.V246V	p.V246V	NM_005284	NP_005275	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	2	918	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	246			Helical; Name=5; (Potential).		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Silent	SNP	ENST00000275169.3	37	c.738G>A	CCDS5079.1																																																																																				0.687	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			17	12	0	0	0	0	17	12				
COL10A1	1300	broad.mit.edu	37	6	116443007	116443007	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:116443007T>G	ENST00000327673.4	-	2	679	c.272A>C	c.(271-273)cAa>cCa	p.Q91P	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Missense_Mutation_p.W130G|COL10A1_ENST00000243222.4_Missense_Mutation_p.Q91P			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	91	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TGGCTCTCCTTGGAGTCCAGG	0.607																																						uc003pwm.2		NA																	0				central_nervous_system(1)	1						c.(271-273)CAA>CCA		type X collagen alpha 1 precursor							70.0	69.0	69.0					6																	116443007		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116443007T>G		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.272A>C	6.37:g.116443007T>G	ENSP00000327368:p.Gln91Pro					NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	p.Q91P	NM_000493	NP_000484	Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	3	368	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	91			Triple-helical region.		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.272A>C	CCDS5105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.973|9.973	1.226102|1.226102	0.22542|0.22542	.|.	.|.	ENSG00000123500|ENSG00000234188	ENST00000243222;ENST00000327673;ENST00000452729|ENST00000430695	D;D;D|.	0.95885|.	-3.03;-3.03;-3.84|.	5.55|5.55	4.36|4.36	0.52297|0.52297	.|.	0.111307|.	0.64402|.	D|.	0.000006|.	T|T	0.08223|0.08223	0.0205|0.0205	N|N	0.01015|0.01015	-1.05|-1.05	0.50467|0.50467	D|D	0.999877|0.999877	B|.	0.06786|.	0.001|.	B|.	0.09377|.	0.004|.	T|T	0.16070|0.16070	-1.0415|-1.0415	10|6	0.05525|0.15952	T|T	0.97|0.53	.|.	12.1274|12.1274	0.53924|0.53924	0.0:0.0:0.2709:0.7291|0.0:0.0:0.2709:0.7291	.|.	91|.	Q03692|.	COAA1_HUMAN|.	P|G	91|130	ENSP00000243222:Q91P;ENSP00000327368:Q91P;ENSP00000411285:Q91P|.	ENSP00000243222:Q91P|ENSP00000415795:W130G	Q|W	-|+	2|1	0|0	COL10A1|AL121963.1	116549700|116549700	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.837000|0.837000	0.47467|0.47467	1.621000|1.621000	0.36986|0.36986	1.005000|1.005000	0.39183|0.39183	0.533000|0.533000	0.62120|0.62120	CAA|TGG		0.607	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			8	66	0	0	0	0	8	66				
FAM184A	79632	broad.mit.edu	37	6	119295637	119295637	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:119295637C>A	ENST00000338891.7	-	14	3314	c.2871G>T	c.(2869-2871)aaG>aaT	p.K957N	FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000352896.5_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	957						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTCGTTAGTCTTATTAAAAT	0.348																																						uc003pyj.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(2869-2871)AAG>AAT		hypothetical protein LOC79632 isoform 1							234.0	219.0	224.0					6																	119295637		1805	4078	5883	SO:0001583	missense	79632							g.chr6:119295637C>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2871G>T	6.37:g.119295637C>A	ENSP00000342604:p.Lys957Asn					FAM184A_uc003pyk.3_Intron|FAM184A_uc003pyl.3_Intron|FAM184A_uc003pyi.2_RNA	p.K957N	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			14	3219	-			957					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.2871G>T	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385475	0.61956	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000368472	T;T	0.48201	2.3;0.82	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64896	-0.6299	10	0.52906	T	0.07	-19.4842	19.0022	0.92838	0.0:1.0:0.0:0.0	.	957	Q8NB25	F184A_HUMAN	N	120;957;18	ENSP00000342604:K957N;ENSP00000357457:K18N	ENSP00000342604:K957N	K	-	3	2	FAM184A	119337336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.535000	0.53575	2.562000	0.86427	0.585000	0.79938	AAG		0.348	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		47	132	1	0	1.07e-20	1.34e-20	47	132				
GRM1	2911	broad.mit.edu	37	6	146755396	146755396	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:146755396C>T	ENST00000282753.1	+	8	3284	c.3049C>T	c.(3049-3051)Ctc>Ttc	p.L1017F	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.L1017F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1017	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCCCCCTCCTCTCCAGCAGCA	0.652																																						uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(3049-3051)CTC>TTC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						52.0	62.0	58.0					6																	146755396		2203	4299	6502	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755396C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3049C>T	6.37:g.146755396C>T	ENSP00000282753:p.Leu1017Phe					GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.L1017F	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3519	+		Ovarian(120;0.0387)	1017			Gln/Pro-rich.|Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3049C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	7.239	0.600855	0.13939	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.88277	-2.36;-2.36	4.62	3.73	0.42828	.	0.678176	0.12049	N	0.504249	T	0.64382	0.2593	N	0.14661	0.345	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.53627	-0.8412	10	0.25106	T	0.35	.	9.0717	0.36497	0.0:0.8929:0.0:0.1071	.	1017	Q13255	GRM1_HUMAN	F	1017	ENSP00000354896:L1017F;ENSP00000282753:L1017F	ENSP00000282753:L1017F	L	+	1	0	GRM1	146797089	0.690000	0.27699	0.819000	0.32651	0.345000	0.29048	1.312000	0.33574	2.104000	0.64026	0.456000	0.33151	CTC		0.652	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		36	64	0	0	0	0	36	64				
PDE1C	5137	broad.mit.edu	37	7	31917639	31917639	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:31917639G>A	ENST00000396191.1	-	5	891	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	PDE1C_ENST00000396193.1_Missense_Mutation_p.R206W|PDE1C_ENST00000396182.2_Missense_Mutation_p.R146W|PDE1C_ENST00000321453.7_Missense_Mutation_p.R146W|PDE1C_ENST00000396184.3_Missense_Mutation_p.R146W	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	146					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTTGATGTCCGTCTATACATT	0.343																																						uc003tcm.1		NA																	0				skin(3)|central_nervous_system(1)	4						c.(436-438)CGG>TGG		phosphodiesterase 1C							111.0	102.0	105.0					7																	31917639		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31917639G>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.436C>T	7.37:g.31917639G>A	ENSP00000379494:p.Arg146Trp					PDE1C_uc003tcn.1_Missense_Mutation_p.R146W|PDE1C_uc003tco.1_Missense_Mutation_p.R206W|PDE1C_uc003tcr.2_Missense_Mutation_p.R146W|PDE1C_uc003tcs.2_Missense_Mutation_p.R146W	p.R146W	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		5	905	-			146					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.436C>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337977	0.81911	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.74737	-0.87;-0.86;-0.86;-0.83;-0.83	5.75	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.86569	0.5964	M	0.85299	2.745	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.72338	0.977;0.962;0.899	D	0.88549	0.3115	10	0.87932	D	0	.	13.3151	0.60403	0.0:0.0:0.7121:0.2879	.	146;206;146	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	W	206;146;146;146;146	ENSP00000379496:R206W;ENSP00000379494:R146W;ENSP00000318105:R146W;ENSP00000379487:R146W;ENSP00000379485:R146W	ENSP00000318105:R146W	R	-	1	2	PDE1C	31884164	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.140000	0.50585	1.389000	0.46526	0.650000	0.86243	CGG		0.343	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			8	35	0	0	0	0	8	35				
AZGP1	563	broad.mit.edu	37	7	99565809	99565809	+	Silent	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:99565809C>A	ENST00000292401.4	-	3	718	c.582G>T	c.(580-582)ctG>ctT	p.L194L	AZGP1_ENST00000411734.1_Silent_p.L191L|AZGP1_ENST00000483612.1_5'Flank	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	194					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGCTGTATTTCAGGTATTTCC	0.547																																						uc003ush.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(580-582)CTG>CTT		alpha-2-glycoprotein 1, zinc							92.0	90.0	90.0					7																	99565809		2203	4300	6503	SO:0001819	synonymous_variant	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99565809C>A	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.582G>T	7.37:g.99565809C>A							p.L194L	NM_001185	NP_001176	P25311	ZA2G_HUMAN			3	626	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		194					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Silent	SNP	ENST00000292401.4	37	c.582G>T	CCDS5680.1																																																																																				0.547	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		37	44	1	0	1.84e-18	2.27e-18	37	44				
RELN	5649	broad.mit.edu	37	7	103143679	103143680	+	Splice_Site	DNP	TA	TA	AT	rs528564288		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:103143679_103143680TA>AT	ENST00000428762.1	-	52	8434		c.e52-2		CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTGAGATCTAATAAACAGAA	0.366																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.e52-1		reelin isoform a																																				SO:0001630	splice_region_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103143679_103143680TA>AT		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8275_8275delinsAT	7.37:g.103143679_103143680delinsAT						RELN_uc010liz.2_Splice_Site_p.I2759_splice	p.I2759_splice	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	52	8435	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	DNP	ENST00000428762.1	37	c.8275_splice	CCDS47680.1																																																																																				0.366	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Intron	13	38	0	0	0	0	13	38				
ASB15	142685	broad.mit.edu	37	7	123267298	123267298	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:123267298C>A	ENST00000451558.1	+	11	1353	c.832C>A	c.(832-834)Ctt>Att	p.L278I	ASB15_ENST00000540573.1_Missense_Mutation_p.L278I|ASB15_ENST00000451215.1_Missense_Mutation_p.L278I|RP11-390E23.3_ENST00000429396.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000451016.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.L278I|ASB15_ENST00000434204.1_Missense_Mutation_p.L278I|RP11-390E23.3_ENST00000422401.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	278					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGCAGGACATCTTCCTATACA	0.438																																						uc003vku.1		NA																	0				skin(2)|lung(1)	3						c.(832-834)CTT>ATT		ankyrin repeat and SOCS box-containing 15							105.0	86.0	92.0					7																	123267298		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123267298C>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.832C>A	7.37:g.123267298C>A	ENSP00000397655:p.Leu278Ile					ASB15_uc003vkv.1_Missense_Mutation_p.L278I|ASB15_uc003vkw.1_Missense_Mutation_p.L278I	p.L278I	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN			9	1124	+			278					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.832C>A	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254250	0.95336	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.77	5.77	0.91146	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000009	T	0.70228	0.3200	N	0.26130	0.795	0.58432	D	0.999999	D	0.67145	0.996	D	0.67900	0.954	T	0.72283	-0.4339	10	0.62326	D	0.03	-13.6049	19.9944	0.97379	0.0:1.0:0.0:0.0	.	278	Q8WXK1	ASB15_HUMAN	I	278;278;278;278;67;278	ENSP00000397655:L278I;ENSP00000390963:L278I;ENSP00000416433:L278I;ENSP00000438643:L278I;ENSP00000275699:L278I	ENSP00000275699:L278I	L	+	1	0	ASB15	123054534	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.660000	0.61511	2.720000	0.93068	0.557000	0.71058	CTT		0.438	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			18	23	1	0	1.34e-09	1.61e-09	18	23				
ASB15	142685	broad.mit.edu	37	7	123269291	123269291	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:123269291G>C	ENST00000451558.1	+	12	1764	c.1243G>C	c.(1243-1245)Gac>Cac	p.D415H	ASB15_ENST00000540573.1_Missense_Mutation_p.D415H|ASB15_ENST00000451215.1_Missense_Mutation_p.D415H|ASB15_ENST00000275699.3_Missense_Mutation_p.D415H|ASB15_ENST00000434204.1_Missense_Mutation_p.D415H			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	415					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GCATGTGAATGACACTCGTTT	0.418																																						uc003vku.1		NA																	0				skin(2)|lung(1)	3						c.(1243-1245)GAC>CAC		ankyrin repeat and SOCS box-containing 15							166.0	148.0	154.0					7																	123269291		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123269291G>C	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1243G>C	7.37:g.123269291G>C	ENSP00000397655:p.Asp415His					ASB15_uc003vkw.1_Missense_Mutation_p.D415H	p.D415H	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN			10	1535	+			415					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.1243G>C	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149146	0.78001	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	6.17	6.17	0.99709	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.80513	0.4637	L	0.59436	1.845	0.58432	D	0.999996	D	0.76494	0.999	D	0.68765	0.96	T	0.78725	-0.2092	10	0.56958	D	0.05	-32.3646	20.8794	0.99867	0.0:0.0:1.0:0.0	.	415	Q8WXK1	ASB15_HUMAN	H	415;415;415;415;204;415	ENSP00000397655:D415H;ENSP00000390963:D415H;ENSP00000416433:D415H;ENSP00000438643:D415H;ENSP00000275699:D415H	ENSP00000275699:D415H	D	+	1	0	ASB15	123056527	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.353000	0.59411	2.941000	0.99782	0.655000	0.94253	GAC		0.418	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			25	83	0	0	0	0	25	83				
HIPK2	28996	broad.mit.edu	37	7	139258060	139258060	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:139258060C>T	ENST00000406875.3	-	15	3304	c.3210G>A	c.(3208-3210)ccG>ccA	p.P1070P	HIPK2_ENST00000428878.2_Silent_p.P1043P	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1070	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGAAGGAGTACGGAGCCTGGG	0.682																																						uc003vvf.3		NA																	0				ovary(3)|central_nervous_system(3)|skin(1)	7						c.(3208-3210)CCG>CCA		homeodomain interacting protein kinase 2 isoform							84.0	104.0	97.0					7																	139258060		2181	4276	6457	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139258060C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3210G>A	7.37:g.139258060C>T						HIPK2_uc003vvd.3_Silent_p.P1043P	p.P1070P	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			15	3384	-	Melanoma(164;0.205)		1070			Autoinhibitory domain (AID).		Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.3210G>A																																																																																					0.682	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		47	77	0	0	0	0	47	77				
MGAM	8972	broad.mit.edu	37	7	141722076	141722076	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:141722076C>T	ENST00000549489.2	+	7	814	c.719C>T	c.(718-720)tCg>tTg	p.S240L	MGAM_ENST00000475668.2_Missense_Mutation_p.S240L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	240	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGTTTGACTCGAGCATTGGG	0.522																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(718-720)TCG>TTG		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						132.0	134.0	134.0					7																	141722076		2086	4227	6313	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141722076C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.719C>T	7.37:g.141722076C>T	ENSP00000447378:p.Ser240Leu						p.S240L	NM_004668	NP_004659	O43451	MGA_HUMAN			7	773	+	Melanoma(164;0.0272)		240			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.719C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772349	0.90108	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.85702	-2.02	5.55	5.55	0.83447	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.44902	D	0.000406	D	0.92941	0.7754	M	0.86028	2.79	0.39707	D	0.971271	D	0.89917	1.0	D	0.73708	0.981	D	0.93910	0.7196	10	0.87932	D	0	.	17.0425	0.86493	0.0:1.0:0.0:0.0	.	240	O43451	MGA_HUMAN	L	240;240;117	ENSP00000447378:S240L	ENSP00000316431:S117L	S	+	2	0	MGAM	141368545	1.000000	0.71417	0.975000	0.42487	0.962000	0.63368	7.147000	0.77382	2.885000	0.99019	0.655000	0.94253	TCG		0.522	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			30	52	0	0	0	0	30	52				
ZNF212	7988	broad.mit.edu	37	7	148947393	148947393	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:148947393G>A	ENST00000335870.2	+	2	296	c.168G>A	c.(166-168)gaG>gaA	p.E56E		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	56					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGAAGATGGAGTCCCAGGCTG	0.582																																						uc003wfp.2		NA																	0				ovary(1)	1						c.(166-168)GAG>GAA		zinc finger protein 212							48.0	51.0	50.0					7																	148947393		2203	4300	6503	SO:0001819	synonymous_variant	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947393G>A	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.168G>A	7.37:g.148947393G>A							p.E56E	NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		2	264	+	Melanoma(164;0.15)		56					B2RCF4|Q13396|Q8N664	Silent	SNP	ENST00000335870.2	37	c.168G>A	CCDS5896.1																																																																																				0.582	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		6	80	0	0	0	0	6	80				
HTR5A	3361	broad.mit.edu	37	7	154862705	154862705	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:154862705C>T	ENST00000287907.2	+	1	672	c.96C>T	c.(94-96)agC>agT	p.S32S	HTR5A-AS1_ENST00000493904.1_Intron|HTR5A-AS1_ENST00000395731.2_Intron|HTR5A-AS1_ENST00000543018.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	32					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TGCGCCCCAGCTCGCCCCTGC	0.607																																						uc003wlu.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(94-96)AGC>AGT		5-hydroxytryptamine receptor 5A							100.0	95.0	97.0					7																	154862705		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862705C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.96C>T	7.37:g.154862705C>T						uc011kvt.1_Intron|uc003wlt.2_Intron	p.S32S	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	160	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	32			Extracellular (By similarity).		Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.96C>T	CCDS5936.1																																																																																				0.607	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		23	87	0	0	0	0	23	87				
SGK223	157285	broad.mit.edu	37	8	8185978	8185978	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:8185978C>G	ENST00000520004.1	-	5	2579		c.e5-1		SGK223_ENST00000330777.4_Splice_Site			Q86YV5	SG223_HUMAN									ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GACGAGGGACCTGAAGAGGAG	0.522																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NA																	0					0						c.e4-1		pragmin							16.0	19.0	18.0					8																	8185978		2011	4169	6180	SO:0001630	splice_region_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8185978C>G																												ENST00000520004.1:c.2315-1G>C	8.37:g.8185978C>G							p.G772_splice	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			4	2315	-								Q8N3N5	Splice_Site	SNP	ENST00000520004.1	37	c.2315_splice	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627463	0.46944	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6507	0.91429	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC068353.1	8223388	1.000000	0.71417	0.937000	0.37676	0.278000	0.26855	5.854000	0.69503	2.821000	0.97095	0.655000	0.94253	.		0.522	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		Intron	8	6	0	0	0	0	8	6				
GSR	2936	broad.mit.edu	37	8	30557645	30557645	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:30557645G>A	ENST00000221130.5	-	6	738	c.648C>T	c.(646-648)agC>agT	p.S216S	GSR_ENST00000414019.1_Silent_p.S173S|GSR_ENST00000537535.1_Silent_p.S216S|GSR_ENST00000541648.1_Silent_p.S216S|GSR_ENST00000546342.1_Silent_p.S216S	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	216					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	TTATTCCTAAGCTGGCACCTA	0.433																																						uc003xih.1		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(646-648)AGC>AGT		glutathione reductase precursor	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						120.0	111.0	114.0					8																	30557645		2203	4300	6503	SO:0001819	synonymous_variant	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30557645G>A		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.648C>T	8.37:g.30557645G>A							p.S216S	NM_000637	NP_000628	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	6	739	-			216					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Silent	SNP	ENST00000221130.5	37	c.648C>T	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	g	1.641	-0.516356	0.04200	.	.	ENSG00000104687	ENST00000520888	.	.	.	5.96	0.0469	0.14278	.	.	.	.	.	T	0.50633	0.1627	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37798	-0.9690	4	.	.	.	0.0088	5.291	0.15727	0.3748:0.139:0.4862:0.0	.	.	.	.	F	172	.	.	L	-	1	0	GSR	30677187	1.000000	0.71417	0.904000	0.35570	0.156000	0.22039	0.631000	0.24568	0.142000	0.18901	-0.737000	0.03537	CTT		0.433	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			41	12	0	0	0	0	41	12				
PXDNL	137902	broad.mit.edu	37	8	52320696	52320696	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:52320696G>A	ENST00000356297.4	-	17	3588	c.3488C>T	c.(3487-3489)aCt>aTt	p.T1163I	PXDNL_ENST00000543296.1_Missense_Mutation_p.T1163I	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1163					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTAACTGAAGTCAAATTACA	0.403																																						uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(3487-3489)ACT>ATT		peroxidasin homolog-like precursor							74.0	73.0	73.0					8																	52320696		1819	4096	5915	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320696G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3488C>T	8.37:g.52320696G>A	ENSP00000348645:p.Thr1163Ile					PXDNL_uc003xqt.3_RNA	p.T1163I	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3589	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1163					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3488C>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.55|11.55	1.673341|1.673341	0.29693|0.29693	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|T;T	.|0.69435	.|-0.4;-0.4	3.82|3.82	2.92|2.92	0.33932|0.33932	.|.	.|0.398541	.|0.21119	.|N	.|0.079843	T|T	0.74238|0.74238	0.3690|0.3690	M|M	0.62154|0.62154	1.92|1.92	0.28234|0.28234	N|N	0.925969|0.925969	.|D	.|0.54397	.|0.966	.|P	.|0.59288	.|0.855	T|T	0.68221|0.68221	-0.5466|-0.5466	5|10	.|0.72032	.|D	.|0.01	.|.	10.9804|10.9804	0.47490|0.47490	0.0:0.1918:0.8082:0.0|0.0:0.1918:0.8082:0.0	.|.	.|1163	.|A1KZ92	.|PXDNL_HUMAN	F|I	282|1163	.|ENSP00000348645:T1163I;ENSP00000444865:T1163I	.|ENSP00000348645:T1163I	L|T	-|-	1|2	0|0	PXDNL|PXDNL	52483249|52483249	0.941000|0.941000	0.31946|0.31946	0.011000|0.011000	0.14972|0.14972	0.156000|0.156000	0.22039|0.22039	4.441000|4.441000	0.59981|0.59981	0.551000|0.551000	0.29008|0.29008	0.655000|0.655000	0.94253|0.94253	CTT|ACT		0.403	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		4	82	0	0	0	0	4	82				
PCMTD1	115294	broad.mit.edu	37	8	52773448	52773448	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:52773448T>C	ENST00000360540.5	-	3	670	c.264A>G	c.(262-264)ggA>ggG	p.G88G	PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000521344.1_Silent_p.G88G|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000522514.1_Silent_p.G88G	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	88						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CGGTTCCACTTCCCAGGTTAA	0.333																																						uc003xqx.3		NA																	0					0						c.(262-264)GGA>GGG		protein-L-isoaspartate (D-aspartate)							81.0	77.0	78.0					8																	52773448		2203	4300	6503	SO:0001819	synonymous_variant	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52773448T>C		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.264A>G	8.37:g.52773448T>C						PCMTD1_uc003xqw.3_Silent_p.G88G|PCMTD1_uc011ldn.1_Intron|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Silent_p.G88G	p.G88G	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			2	605	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	88					Q96FK9	Silent	SNP	ENST00000360540.5	37	c.264A>G	CCDS6148.1																																																																																				0.333	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		3	36	0	0	0	0	3	36				
ST18	9705	broad.mit.edu	37	8	53126796	53126796	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:53126796T>C	ENST00000276480.7	-	7	705	c.22A>G	c.(22-24)Aaa>Gaa	p.K8E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	8					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGCAGCGTTTTATCTTCAGCC	0.428																																						uc003xqz.2		NA																	0				ovary(4)|skin(1)	5						c.(22-24)AAA>GAA		suppression of tumorigenicity 18							195.0	161.0	173.0					8																	53126796		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53126796T>C	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.22A>G	8.37:g.53126796T>C	ENSP00000276480:p.Lys8Glu					ST18_uc011ldq.1_Translation_Start_Site|ST18_uc011ldr.1_Translation_Start_Site|ST18_uc011lds.1_Translation_Start_Site|ST18_uc003xra.2_Missense_Mutation_p.K8E|ST18_uc003xrb.2_Missense_Mutation_p.K8E|ST18_uc010lyb.2_RNA	p.K8E	NM_014682	NP_055497	O60284	ST18_HUMAN			2	178	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	8					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.22A>G	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941618	0.73557	.	.	ENSG00000147488	ENST00000276480;ENST00000517580;ENST00000519118	T;T	0.49720	0.8;0.77	5.49	5.49	0.81192	.	0.366748	0.28504	N	0.015113	T	0.43831	0.1265	L	0.55990	1.75	0.26108	N	0.980725	B	0.32573	0.376	B	0.23852	0.049	T	0.50118	-0.8865	10	0.87932	D	0	-4.7653	15.8844	0.79232	0.0:0.0:0.0:1.0	.	8	O60284	ST18_HUMAN	E	8	ENSP00000276480:K8E;ENSP00000428521:K8E	ENSP00000276480:K8E	K	-	1	0	ST18	53289349	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.978000	0.40598	2.218000	0.71995	0.533000	0.62120	AAA		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			58	68	0	0	0	0	58	68				
MOS	4342	broad.mit.edu	37	8	57025569	57025569	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:57025569C>T	ENST00000311923.1	-	1	972	c.973G>A	c.(973-975)Gcg>Acg	p.A325T		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	325	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CTCTGCGCCGCGCTGGGTCTC	0.632																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.1		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(973-975)GCG>ACG		v-mos Moloney murine sarcoma viral oncogene							21.0	24.0	23.0					8																	57025569		2202	4297	6499	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025569C>T		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.973G>A	8.37:g.57025569C>T	ENSP00000310722:p.Ala325Thr						p.A325T	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	973	-			325			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.973G>A	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461818	0.43736	.	.	ENSG00000172680	ENST00000311923	D	0.93604	-3.25	5.8	1.16	0.20824	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.594961	0.15450	N	0.261722	D	0.85986	0.5825	L	0.41236	1.265	0.09310	N	1	B	0.29115	0.233	B	0.20384	0.029	T	0.76011	-0.3115	10	0.48119	T	0.1	.	2.9103	0.05734	0.1259:0.4524:0.2473:0.1744	.	325	P00540	MOS_HUMAN	T	325	ENSP00000310722:A325T	ENSP00000310722:A325T	A	-	1	0	MOS	57188123	0.001000	0.12720	0.001000	0.08648	0.207000	0.24258	0.598000	0.24074	0.296000	0.22592	0.561000	0.74099	GCG		0.632	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		18	25	0	0	0	0	18	25				
SGK3	23678	broad.mit.edu	37	8	67740926	67740926	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:67740926C>A	ENST00000396596.1	+	7	669	c.455C>A	c.(454-456)tCt>tAt	p.S152Y	SGK3_ENST00000521198.2_Missense_Mutation_p.S152Y|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.S152Y|SGK3_ENST00000522398.1_Missense_Mutation_p.S152Y|SGK3_ENST00000520976.1_Missense_Mutation_p.S152Y|SGK3_ENST00000345714.4_Missense_Mutation_p.S152Y	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	152					ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTGGGACCGTCTGGAAATCCT	0.328																																						uc003xwr.2		NA																	0				ovary(1)|large_intestine(1)|lung(1)|breast(1)	4						c.(454-456)TCT>TAT		serum/glucocorticoid regulated kinase 3 isoform							169.0	171.0	170.0					8																	67740926		2203	4300	6503	SO:0001583	missense	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67740926C>A		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.455C>A	8.37:g.67740926C>A	ENSP00000379842:p.Ser152Tyr					SGK3_uc003xwp.2_Missense_Mutation_p.S146Y|SGK3_uc003xwt.2_Missense_Mutation_p.S152Y|SGK3_uc003xwu.2_Missense_Mutation_p.S152Y	p.S152Y	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		7	754	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	152					A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.455C>A	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026140	0.93518	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000521960;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714;ENST00000519396	T;T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18;3.18;3.18	5.46	5.46	0.80206	Protein kinase-like domain (1);	0.051466	0.85682	D	0.000000	T	0.18676	0.0448	L	0.29908	0.895	0.42879	D	0.994162	P;D	0.55172	0.676;0.97	P;P	0.61592	0.866;0.891	T	0.01185	-1.1425	9	0.59425	D	0.04	.	19.2897	0.94093	0.0:1.0:0.0:0.0	.	152;152	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	Y	152;152;152;85;152;152;152;152;34	ENSP00000429022:S152Y;ENSP00000430463:S152Y;ENSP00000430256:S152Y;ENSP00000430691:S152Y;ENSP00000379842:S152Y;ENSP00000331816:S152Y;ENSP00000428529:S34Y	ENSP00000262211:S152Y	S	+	2	0	SGK3	67903480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.559000	0.86315	0.563000	0.77884	TCT		0.328	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			45	81	1	0	2.49e-17	3.07e-17	45	81				
TRAM1	23471	broad.mit.edu	37	8	71487192	71487192	+	Missense_Mutation	SNP	C	C	T	rs200901078		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:71487192C>T	ENST00000262213.2	-	11	1269	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	TRAM1_ENST00000521425.1_Missense_Mutation_p.R281Q|TRAM1_ENST00000536748.1_Missense_Mutation_p.R336Q	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	367					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TTTTTTATTCCGGGGAGAGTC	0.294																																					Ovarian(85;984 1334 5116 12432 40638)	uc003xyo.1		NA																	0				ovary(1)	1						c.(1099-1101)CGG>CAG		translocation associated membrane protein 1							47.0	47.0	47.0					8																	71487192		2202	4291	6493	SO:0001583	missense	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71487192C>T	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.1100G>A	8.37:g.71487192C>T	ENSP00000262213:p.Arg367Gln					TRAM1_uc011lfc.1_Missense_Mutation_p.R336Q	p.R367Q	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		11	1270	-			367			Cytoplasmic (Potential).		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.1100G>A	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883524	0.51908	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	T;T;T	0.54675	0.56;1.17;1.17	5.94	5.07	0.68467	.	0.095796	0.64402	D	0.000001	T	0.51075	0.1653	M	0.79475	2.455	0.58432	D	0.999994	P	0.40360	0.714	B	0.32465	0.146	T	0.54576	-0.8273	10	0.30078	T	0.28	.	14.9956	0.71428	0.0:0.932:0.0:0.068	.	367	Q15629	TRAM1_HUMAN	Q	281;367;336	ENSP00000428052:R281Q;ENSP00000262213:R367Q;ENSP00000439359:R336Q	ENSP00000262213:R367Q	R	-	2	0	TRAM1	71649746	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.830000	0.75319	1.529000	0.49120	0.650000	0.86243	CGG		0.294	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		18	14	0	0	0	0	18	14				
ZFPM2	23414	broad.mit.edu	37	8	106815640	106815640	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:106815640T>C	ENST00000407775.2	+	8	3580	c.3330T>C	c.(3328-3330)ggT>ggC	p.G1110G	ZFPM2_ENST00000378472.4_Silent_p.G841G|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.G978G|ZFPM2_ENST00000517361.1_Silent_p.G978G|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1110					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTGTGAATGGTTCCAGCCAGG	0.438																																						uc003ymd.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(3328-3330)GGT>GGC		zinc finger protein, multitype 2							48.0	48.0	48.0					8																	106815640		1896	4127	6023	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815640T>C	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3330T>C	8.37:g.106815640T>C						ZFPM2_uc011lhs.1_Silent_p.G841G	p.G1110G	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3353	+			1110					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.3330T>C	CCDS47908.1																																																																																				0.438	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			21	22	0	0	0	0	21	22				
FAM83H	286077	broad.mit.edu	37	8	144808950	144808950	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:144808950G>C	ENST00000388913.3	-	5	2806	c.2681C>G	c.(2680-2682)aCt>aGt	p.T894S		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	894					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAATCCTGTAGTTGGACTTCC	0.637																																						uc003yzk.2		NA																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2680-2682)ACT>AGT		FAM83H							21.0	23.0	22.0					8																	144808950		1909	4112	6021	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808950G>C	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2681C>G	8.37:g.144808950G>C	ENSP00000373565:p.Thr894Ser					FAM83H_uc010mfk.1_RNA	p.T894S	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	2750	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		894					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.2681C>G	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	5.642	0.303036	0.10678	.	.	ENSG00000180921	ENST00000388913	T	0.13778	2.56	4.4	3.5	0.40072	.	1.665960	0.04268	N	0.341589	T	0.10723	0.0262	L	0.29908	0.895	0.09310	N	1	P	0.43750	0.816	B	0.39706	0.307	T	0.06180	-1.0841	10	0.09084	T	0.74	.	8.0628	0.30644	0.094:0.0:0.7345:0.1716	.	894	Q6ZRV2	FA83H_HUMAN	S	894	ENSP00000373565:T894S	ENSP00000373565:T894S	T	-	2	0	FAM83H	144880938	0.148000	0.22702	0.132000	0.22025	0.101000	0.19017	0.786000	0.26844	2.165000	0.68154	0.556000	0.70494	ACT		0.637	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		20	22	0	0	0	0	20	22				
WNK2	65268	broad.mit.edu	37	9	96055448	96055448	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:96055448C>T	ENST00000297954.4	+	23	5812	c.5812C>T	c.(5812-5814)Cgg>Tgg	p.R1938W	WNK2_ENST00000427277.2_Missense_Mutation_p.R1513W|WNK2_ENST00000356055.3_Missense_Mutation_p.R263W|WNK2_ENST00000395477.2_Missense_Mutation_p.R1901W|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.R1550W	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1938					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCAGAGTCTGCGGGAGAAGTA	0.607																																						uc004ati.1		NA																	0				lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(5812-5814)CGG>TGG		WNK lysine deficient protein kinase 2							21.0	22.0	22.0					9																	96055448		2201	4295	6496	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96055448C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.5812C>T	9.37:g.96055448C>T	ENSP00000297954:p.Arg1938Trp					WNK2_uc011lud.1_Missense_Mutation_p.R1901W|WNK2_uc004atj.2_Missense_Mutation_p.R1901W|WNK2_uc004atk.2_Missense_Mutation_p.R1538W|WNK2_uc004atl.1_Missense_Mutation_p.R495W	p.R1938W	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			23	5812	+			1938					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.5812C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.90|16.90	3.249647|3.249647	0.59212|0.59212	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277;ENST00000356055	.|D;D;D;D;T	.|0.90133	.|-2.62;-2.55;-1.85;-1.8;0.79	4.67|4.67	2.51|2.51	0.30379|0.30379	.|.	.|0.062815	.|0.64402	.|D	.|0.000010	D|D	0.94889|0.94889	0.8348|0.8348	M|M	0.84585|0.84585	2.705|2.705	0.40985|0.40985	D|D	0.984801|0.984801	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.983;0.999;0.967;0.974	D|D	0.95015|0.95015	0.8155|0.8155	5|10	.|0.87932	.|D	.|0	.|.	11.5896|11.5896	0.50939|0.50939	0.458:0.542:0.0:0.0|0.458:0.542:0.0:0.0	.|.	.|1901;1896;1504;1901;1938	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	V|W	1504|1938;1901;1550;1513;263	.|ENSP00000297954:R1938W;ENSP00000378860:R1901W;ENSP00000297876:R1550W;ENSP00000411181:R1513W;ENSP00000348347:R263W	.|ENSP00000297954:R1938W	A|R	+|+	2|1	0|2	WNK2|WNK2	95095269|95095269	0.993000|0.993000	0.37304|0.37304	0.951000|0.951000	0.38953|0.38953	0.910000|0.910000	0.53928|0.53928	2.739000|2.739000	0.47409|0.47409	0.876000|0.876000	0.35872|0.35872	0.462000|0.462000	0.41574|0.41574	GCG|CGG		0.607	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		7	6	0	0	0	0	7	6				
NUTM2G	441457	broad.mit.edu	37	9	99694193	99694193	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:99694193A>C	ENST00000372322.3	+	2	227	c.206A>C	c.(205-207)gAt>gCt	p.D69A	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Missense_Mutation_p.D69A	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	69																	GCAGGACAGGATGGCCGCGGC	0.647																																						uc004awq.1		NA																	0				skin(1)	1						c.(205-207)GAT>GCT		hypothetical protein LOC441457							19.0	25.0	23.0					9																	99694193		1865	4086	5951	SO:0001583	missense	441457							g.chr9:99694193A>C		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.206A>C	9.37:g.99694193A>C	ENSP00000361397:p.Asp69Ala						p.D69A	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN			2	921	+		Acute lymphoblastic leukemia(62;0.0527)	69					A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.206A>C	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	0.615	-0.823633	0.02755	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159	T;T	0.24538	1.85;1.85	0.914	-1.83	0.07833	.	.	.	.	.	T	0.15305	0.0369	L	0.31664	0.95	0.09310	N	1	B	0.22683	0.073	B	0.27380	0.079	T	0.29305	-1.0016	9	0.40728	T	0.16	.	2.5642	0.04779	0.2904:0.3007:0.4089:0.0	.	69	Q5VZR2-2	.	A	69	ENSP00000346670:D69A;ENSP00000361397:D69A	ENSP00000346670:D69A	D	+	2	0	FAM22G	98734014	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.268000	0.08607	-1.045000	0.03250	-0.435000	0.05868	GAT		0.647	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		12	16	0	0	0	0	12	16				
BRINP1	1620	broad.mit.edu	37	9	121929496	121929496	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:121929496C>T	ENST00000265922.3	-	8	2613	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	718					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GAGAACAAGTCCAGCTGGGGT	0.542																																						uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(2152-2154)GAC>AAC		deleted in bladder cancer 1 precursor							108.0	113.0	112.0					9																	121929496		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929496C>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.2152G>A	9.37:g.121929496C>T	ENSP00000265922:p.Asp718Asn						p.D718N	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	2608	-			718					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.2152G>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830051	0.91036	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.27402	1.67	5.73	5.73	0.89815	.	0.044522	0.85682	D	0.000000	T	0.38081	0.1027	M	0.61703	1.905	0.80722	D	1	B	0.29253	0.239	B	0.29663	0.105	T	0.23084	-1.0198	10	0.87932	D	0	-29.2386	20.2921	0.98543	0.0:1.0:0.0:0.0	.	718	O60477	DBC1_HUMAN	N	718	ENSP00000265922:D718N	ENSP00000265922:D718N	D	-	1	0	DBC1	120969317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.879000	0.98667	0.650000	0.86243	GAC		0.542	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		6	117	0	0	0	0	6	117				
GPR21	2844	broad.mit.edu	37	9	125797792	125797792	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:125797792A>G	ENST00000373642.1	+	1	987	c.947A>G	c.(946-948)aAg>aGg	p.K316R	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	316					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						AGAGGACTAAAGCGCCTCTCA	0.453																																						uc011lzk.1		NA																	0				ovary(1)	1						c.(946-948)AAG>AGG		G protein-coupled receptor 21							84.0	85.0	85.0					9																	125797792		2203	4300	6503	SO:0001583	missense	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797792A>G	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.947A>G	9.37:g.125797792A>G	ENSP00000362746:p.Lys316Arg					RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	p.K316R	NM_005294	NP_005285	Q99679	GPR21_HUMAN			1	947	+			316			Cytoplasmic (Potential).		B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	c.947A>G	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	A	1.564	-0.536031	0.04082	.	.	ENSG00000188394	ENST00000373642	T	0.38077	1.16	6.03	4.87	0.63330	.	0.305702	0.27375	U	0.019659	T	0.17874	0.0429	N	0.08118	0	0.80722	D	1	B	0.16166	0.016	B	0.13407	0.009	T	0.05767	-1.0865	10	0.08179	T	0.78	-3.0148	12.3676	0.55236	0.8656:0.0:0.0:0.1344	.	316	Q99679	GPR21_HUMAN	R	316	ENSP00000362746:K316R	ENSP00000362746:K316R	K	+	2	0	GPR21	124837613	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.910000	0.63321	1.065000	0.40693	-0.438000	0.05819	AAG		0.453	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294		51	41	0	0	0	0	51	41				
ST6GALNAC6	30815	broad.mit.edu	37	9	130653215	130653215	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:130653215C>T	ENST00000373146.1	-	5	584	c.405G>A	c.(403-405)atG>atA	p.M135I	ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.M101I|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.M101I|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.M135I|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.M135I|ST6GALNAC6_ENST00000542456.1_Intron			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	135					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGCATCATTCATGCGGATTG	0.617																																						uc004bso.1		NA																	0					0						c.(403-405)ATG>ATA		sialytransferase 7F							96.0	86.0	89.0					9																	130653215		2203	4300	6503	SO:0001583	missense	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130653215C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.405G>A	9.37:g.130653215C>T	ENSP00000362239:p.Met135Ile					ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.M101I|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.M135I|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.M101I|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.M101I|ST6GALNAC6_uc010mxp.1_RNA	p.M135I	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN			5	524	-			135			Lumenal (Potential).		B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	ENST00000373146.1	37	c.405G>A	CCDS6882.1	.	.	.	.	.	.	.	.	.	.	c	23.5	4.421480	0.83559	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.80028	2.48	0.80722	D	1	P;D	0.55605	0.84;0.972	P;P	0.56648	0.702;0.803	T	0.54166	-0.8334	10	0.87932	D	0	-32.428	18.4186	0.90579	0.0:1.0:0.0:0.0	.	101;135	Q969X2-2;Q969X2	.;SIA7F_HUMAN	I	135;101;135;101;135;101	ENSP00000362239:M135I;ENSP00000362234:M101I;ENSP00000362235:M135I;ENSP00000362237:M101I;ENSP00000291839:M135I;ENSP00000405326:M101I	ENSP00000291839:M135I	M	-	3	0	ST6GALNAC6	129693036	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.371000	0.79600	2.698000	0.92095	0.651000	0.88453	ATG		0.617	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		14	33	0	0	0	0	14	33				
ST6GALNAC6	30815	broad.mit.edu	37	9	130653241	130653241	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:130653241C>G	ENST00000373146.1	-	5	558	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.E93Q|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.E93Q|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.E127Q|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.E127Q|ST6GALNAC6_ENST00000542456.1_Intron			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	127					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAGCCCGCTCGATCTCAGGG	0.592																																						uc004bso.1		NA																	0					0						c.(379-381)GAG>CAG		sialytransferase 7F							82.0	74.0	77.0					9																	130653241		2203	4300	6503	SO:0001583	missense	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130653241C>G	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.379G>C	9.37:g.130653241C>G	ENSP00000362239:p.Glu127Gln					ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.E93Q|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.E127Q|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.E93Q|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.E93Q|ST6GALNAC6_uc010mxp.1_RNA	p.E127Q	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN			5	498	-			127			Lumenal (Potential).		B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	ENST00000373146.1	37	c.379G>C	CCDS6882.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.085823	0.76642	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.71	5.71	0.89125	.	0.090366	0.85682	D	0.000000	T	0.37046	0.0989	L	0.47716	1.5	0.80722	D	1	P;P	0.52577	0.757;0.954	P;P	0.50490	0.509;0.642	T	0.11542	-1.0583	10	0.87932	D	0	-16.3557	11.8468	0.52389	0.0:0.9193:0.0:0.0807	.	93;127	Q969X2-2;Q969X2	.;SIA7F_HUMAN	Q	127;93;127;93;127;93	ENSP00000362239:E127Q;ENSP00000362234:E93Q;ENSP00000362235:E127Q;ENSP00000362237:E93Q;ENSP00000291839:E127Q;ENSP00000405326:E93Q	ENSP00000291839:E127Q	E	-	1	0	ST6GALNAC6	129693062	1.000000	0.71417	0.976000	0.42696	0.744000	0.42396	4.630000	0.61297	2.698000	0.92095	0.651000	0.88453	GAG		0.592	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		15	28	0	0	0	0	15	28				
ADCK3	56997	broad.mit.edu	37	1	227174248	227174250	+	In_Frame_Del	DEL	AGA	AGA	-	rs201171077	byFrequency	TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:227174248_227174250delAGA	ENST00000366779.1	+	20	4525_4527	c.1754_1756delAGA	c.(1753-1758)gagaag>gag	p.K586del	ADCK3_ENST00000433743.2_In_Frame_Del_p.K260del|ADCK3_ENST00000366777.3_In_Frame_Del_p.K586del|ADCK3_ENST00000366778.1_In_Frame_Del_p.K534del|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000458507.2_In_Frame_Del_p.K307del			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	586					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						AGCACCACCGAGAAGATCCACAA	0.591																																						uc001hqm.1		NA																	0					0						c.(1753-1758)GAGAAG>GAG		chaperone, ABC1 activity of bc1 complex like																																				SO:0001651	inframe_deletion	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227174248_227174250delAGA	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1754_1756delAGA	1.37:g.227174251_227174253delAGA	ENSP00000355741:p.Lys586del					CABC1_uc001hqn.1_In_Frame_Del_p.K586del|CABC1_uc009xeq.1_In_Frame_Del_p.K534del|CABC1_uc010pvq.1_In_Frame_Del_p.K307del|CABC1_uc010pvr.1_In_Frame_Del_p.K260del|CABC1_uc001hqo.1_In_Frame_Del_p.K307del|CABC1_uc009xer.1_In_Frame_Del_p.K102del	p.K586del	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN			20	5173_5175	+		Prostate(94;0.0771)	586					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	In_Frame_Del	DEL	ENST00000366779.1	37	c.1754_1756delAGA	CCDS1557.1																																																																																				0.591	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		18	98	NA	NA	NA	NA	18	98	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49425072	49425073	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:49425072_49425073delCA	ENST00000301067.7	-	39	13414_13415	c.13415_13416delTG	c.(13414-13416)gtgfs	p.V4472fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4472					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGCTGAGTTGCACATTCTTTGC	0.614																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(13414-13416)GTGfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49425072_49425073delCA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13415_13416delTG	12.37:g.49425074_49425075delCA	ENSP00000301067:p.Val4472fs	HNSCC(34;0.089)					p.V4472fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			39	13415_13416	-			4472					O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.13415_13416delTG	CCDS44873.1																																																																																				0.614	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			31	68	NA	NA	NA	NA	31	68	---	---	---	---
OR6C2	341416	broad.mit.edu	37	12	55846799	55846802	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:55846799_55846802delATAA	ENST00000322678.1	+	1	802_805	c.802_805delATAA	c.(802-807)ataaatfs	p.IN268fs	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	268					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGAGGTGGCCATAAATAAAGGAGT	0.436																																						uc001sgz.1		NA																	0				skin(2)	2						c.(802-807)ATAAATfs		olfactory receptor, family 6, subfamily C,																																				SO:0001589	frameshift_variant	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846799_55846802delATAA	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.802_805delATAA	12.37:g.55846803_55846806delATAA	ENSP00000323606:p.Ile268fs						p.I268fs	NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN			1	802_805	+			268_269			Extracellular (Potential).			Frame_Shift_Del	DEL	ENST00000322678.1	37	c.802_805delATAA	CCDS31824.1																																																																																				0.436	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		33	35	NA	NA	NA	NA	33	35	---	---	---	---
DECR2	26063	broad.mit.edu	37	16	457468	457471	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:457468_457471delCTCT	ENST00000219481.5	+	4	383_386	c.245_248delCTCT	c.(244-249)cctctcfs	p.PL82fs	DECR2_ENST00000397710.1_Frame_Shift_Del_p.PL133fs|DECR2_ENST00000424398.2_Frame_Shift_Del_p.PL70fs|DECR2_ENST00000461947.1_Intron	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	82					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CGCTGCCTCCCTCTCTCTATGGAC	0.632																																						uc002chb.2		NA																	0					0						c.(244-249)CCTCTCfs		2,4-dienoyl CoA reductase 2																																				SO:0001589	frameshift_variant	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:457468_457471delCTCT	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.245_248delCTCT	16.37:g.457472_457475delCTCT	ENSP00000219481:p.Pro82fs					DECR2_uc002chc.2_5'UTR|DECR2_uc010bqv.2_5'UTR|DECR2_uc002chd.2_5'UTR|DECR2_uc002che.1_RNA	p.P82fs	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN			4	351_354	+		Hepatocellular(16;0.00015)	82_83					Q6ZRS7|Q96ET0	Frame_Shift_Del	DEL	ENST00000219481.5	37	c.245_248delCTCT	CCDS10409.1																																																																																				0.632	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		13	39	NA	NA	NA	NA	13	39	---	---	---	---
TBKBP1	9755	broad.mit.edu	37	17	45774515	45774516	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:45774515_45774516delCT	ENST00000361722.3	+	3	1258_1259	c.409_410delCT	c.(409-411)ctcfs	p.L137fs		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						CTACGAGAAACTCTGCGTGGAG	0.569																																						uc002ilu.2		NA																	0					0						c.(409-411)CTCfs		TBK1 binding protein 1				0,4026		0,0,2013						-1.2	1.0			64	1,8083		0,1,4041	no	frameshift	TBKBP1	NM_014726.2		0,1,6054	A1A1,A1R,RR		0.0124,0.0,0.0083				1,12109				SO:0001589	frameshift_variant	9755				innate immune response			g.chr17:45774515_45774516delCT	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.409_410delCT	17.37:g.45774517_45774518delCT	ENSP00000354777:p.Leu137fs						p.L137fs	NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN			3	1258_1259	+			137			Potential.			Frame_Shift_Del	DEL	ENST00000361722.3	37	c.409_410delCT	CCDS45722.1																																																																																				0.569	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441363.1	NM_014726		13	13	NA	NA	NA	NA	13	13	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76424609	76424611	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:76424609_76424611delCTC	ENST00000585328.1	-	77	12692_12694	c.12568_12570delGAG	c.(12568-12570)gagdel	p.E4190del	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_In_Frame_Del_p.E4189del	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4189					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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCCTGCCTTCTCCTCGCGGGAC	0.596																																						uc010dhp.1		NA																	0				ovary(6)|breast(2)|skin(1)	9						c.(3583-3585)GAGdel		SubName: Full=DNAH17 variant protein; Flags: Fragment;				0,4264		0,0,2132						5.1	1.0			56	1,8251		0,1,4125	no	coding	DNAH17	NM_173628.3		0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12515				SO:0001651	inframe_deletion	8632							g.chr17:76424609_76424611delCTC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.12568_12570delGAG	17.37:g.76424612_76424614delCTC	ENSP00000465516:p.Glu4190del					DNAH17_uc002jvq.2_In_Frame_Del_p.E480del|DNAH17_uc002jvs.2_RNA	p.E1195del					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		22	3805_3807	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	In_Frame_Del	DEL	ENST00000585328.1	37	c.3583_3585delGAG																																																																																					0.596	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		5	8	NA	NA	NA	NA	5	8	---	---	---	---
RAB12	201475	broad.mit.edu	37	18	8633275	8633277	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:8633275_8633277delAAG	ENST00000329286.6	+	3	659_661	c.376_378delAAG	c.(376-378)aagdel	p.K127del	RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	127					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TGATATCACTAAGAAGGAGACAT	0.384																																						uc002knp.2		NA																	0					0						c.(376-378)AAGdel		RAB12, member RAS oncogene family																																				SO:0001651	inframe_deletion	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8633275_8633277delAAG		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.376_378delAAG	18.37:g.8633278_8633280delAAG	ENSP00000331748:p.Lys127del						p.K127del	NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN			3	659_661	+			127					A6NEF5|Q4KMQ3	In_Frame_Del	DEL	ENST00000329286.6	37	c.376_378delAAG	CCDS42410.1																																																																																				0.384	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	XM_113967		27	135	NA	NA	NA	NA	27	135	---	---	---	---
DEDD2	162989	broad.mit.edu	37	19	42719365	42719374	+	Frame_Shift_Del	DEL	GAAGAGCTGG	GAAGAGCTGG	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:42719365_42719374delGAAGAGCTGG	ENST00000595337.1	-	3	446_455	c.359_368delCCAGCTCTTC	c.(358-369)tccagctcttcafs	p.SSSS120fs	DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000596251.1_Frame_Shift_Del_p.SSSS120fs|DEDD2_ENST00000598727.1_Frame_Shift_Del_p.SSSS120fs|DEDD2_ENST00000336034.4_Frame_Shift_Del_p.SSSS120fs	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	120					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				TGTCCTCTTTGAAGAGCTGGAGGTGCCATA	0.567																																						uc002osu.1		NA																	0					0						c.(358-369)TCCAGCTCTTCAfs		death effector domain-containing  DNA binding																																				SO:0001589	frameshift_variant	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42719365_42719374delGAAGAGCTGG	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.359_368delCCAGCTCTTC	19.37:g.42719365_42719374delGAAGAGCTGG	ENSP00000470082:p.Ser120fs					DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Frame_Shift_Del_p.S120fs|DEDD2_uc002osx.1_Frame_Shift_Del_p.P4fs|DEDD2_uc002osy.1_Frame_Shift_Del_p.S120fs	p.S120fs	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN			3	427_436	-		Prostate(69;0.0704)	120_123					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Frame_Shift_Del	DEL	ENST00000595337.1	37	c.359_368delCCAGCTCTTC	CCDS12597.1																																																																																				0.567	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		10	98	NA	NA	NA	NA	10	98	---	---	---	---
RRM2	6241	broad.mit.edu	37	2	10267005	10267006	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:10267005_10267006insT	ENST00000304567.5	+	6	642_643	c.573_574insT	c.(574-576)tttfs	p.F192fs	RRM2_ENST00000360566.2_Frame_Shift_Ins_p.F252fs	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	192					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	CTACTAGGGAATTTCTCTTCAA	0.465																																						uc002rah.2		NA																	0					0						c.(571-576)GAATTTfs		ribonucleotide reductase M2 polypeptide isoform																																				SO:0001589	frameshift_variant	6241				deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr2:10267005_10267006insT		CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.576dupT	2.37:g.10267008_10267008dupT	ENSP00000302955:p.Phe192fs						p.E191fs	NM_001034	NP_001025	P31350	RIR2_HUMAN		Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	6	764_765	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		191_192					B2R9B5|J3KP43|Q5WRU7	Frame_Shift_Ins	INS	ENST00000304567.5	37	c.573_574insT	CCDS1669.1																																																																																				0.465	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2			16	230	NA	NA	NA	NA	16	230	---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10908907	10908908	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:10908907_10908908delAA	ENST00000272238.4	+	6	550_551	c.441_442delAA	c.(439-444)acaaacfs	p.N148fs	ATP6V1C2_ENST00000381661.3_Frame_Shift_Del_p.N148fs|RP11-791G15.2_ENST00000606907.1_lincRNA	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	148					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTCTGAAGACAAACCTGGAGAA	0.569																																					NSCLC(188;1042 2136 10807 16813 47705)	uc002ras.2		NA																	0				ovary(1)	1						c.(439-444)ACAAACfs		vacuolar H+ ATPase C2 isoform a																																				SO:0001589	frameshift_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10908907_10908908delAA	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.441_442delAA	2.37:g.10908907_10908908delAA	ENSP00000272238:p.Asn148fs					ATP6V1C2_uc002rat.2_Frame_Shift_Del_p.T147fs	p.T147fs	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	6	550_551	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		147_148					Q96EL8	Frame_Shift_Del	DEL	ENST00000272238.4	37	c.441_442delAA	CCDS42653.1																																																																																				0.569	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		35	37	NA	NA	NA	NA	35	37	---	---	---	---
ACMSD	130013	broad.mit.edu	37	2	135596266	135596266	+	Frame_Shift_Del	DEL	T	T	-	rs199786838		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:135596266delT	ENST00000356140.5	+	1	150	c.14delT	c.(13-15)atcfs	p.I5fs	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_5'UTR|ACMSD_ENST00000392928.1_5'UTR	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	5					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AAAATTGACATCCATAGTCAT	0.343																																						uc002ttz.2		NA																	0				skin(1)	1						c.(13-15)ATCfs		aminocarboxymuconate semialdehyde decarboxylase							113.0	103.0	106.0					2																	135596266		1832	4095	5927	SO:0001589	frameshift_variant	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135596266delT	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.14delT	2.37:g.135596266delT	ENSP00000348459:p.Ile5fs					ACMSD_uc002tua.2_5'UTR	p.I5fs	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	1	81	+			5					Q3B7X3|Q53SR5|Q96KY2	Frame_Shift_Del	DEL	ENST00000356140.5	37	c.14delT	CCDS2173.2																																																																																				0.343	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1			25	39	NA	NA	NA	NA	25	39	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35208857	35208859	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr21:35208857_35208859delAGG	ENST00000381318.3	+	29	3870_3872	c.3582_3584delAGG	c.(3580-3585)aaagga>aaa	p.G1195del	ITSN1_ENST00000399353.1_In_Frame_Del_p.G1153del|ITSN1_ENST00000399349.1_In_Frame_Del_p.G1119del|ITSN1_ENST00000437442.2_In_Frame_Del_p.G1190del|ITSN1_ENST00000399367.3_In_Frame_Del_p.G1190del|ITSN1_ENST00000399355.2_In_Frame_Del_p.G1124del|ITSN1_ENST00000381285.4_In_Frame_Del_p.G1195del|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000381291.4_In_Frame_Del_p.G1195del|ITSN1_ENST00000399352.1_In_Frame_Del_p.G1190del|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1195	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1195A(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACTGGTGGAAAGGAGAAGTCAAT	0.532																																						uc002yta.1		NA																	1	Substitution - Missense(1)		ovary(1)	ovary(3)|skin(1)	4						c.(3580-3585)AAAGGA>AAA		intersectin 1 isoform ITSN-l																																				SO:0001651	inframe_deletion	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35208857_35208859delAGG	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3582_3584delAGG	21.37:g.35208857_35208859delAGG	ENSP00000370719:p.Gly1195del					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_In_Frame_Del_p.G1119del|ITSN1_uc010gmg.2_In_Frame_Del_p.G1082del|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_In_Frame_Del_p.G1195del|ITSN1_uc010gmi.2_In_Frame_Del_p.G1158del|ITSN1_uc010gmj.2_In_Frame_Del_p.G1074del|ITSN1_uc002ysy.2_In_Frame_Del_p.G1190del|ITSN1_uc002ysx.2_In_Frame_Del_p.G1153del|ITSN1_uc002ytb.1_In_Frame_Del_p.G1190del|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_In_Frame_Del_p.G1087del|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_In_Frame_Del_p.G1190del|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_In_Frame_Del_p.G1058del|ITSN1_uc002yti.1_RNA	p.G1195del	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			29	3850_3852	+			1195			SH3 5.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	In_Frame_Del	DEL	ENST00000381318.3	37	c.3582_3584delAGG	CCDS33545.1																																																																																				0.532	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		28	17	NA	NA	NA	NA	28	17	---	---	---	---
HSD17B8	7923	broad.mit.edu	37	6	33173441	33173442	+	Frame_Shift_Del	DEL	TA	TA	-	rs571007649	byFrequency	TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:33173441_33173442delTA	ENST00000374662.3	+	5	532_533	c.505_506delTA	c.(505-507)tatfs	p.Y169fs	RING1_ENST00000374656.4_5'Flank|MIR219-1_ENST00000362166.1_RNA|HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	169					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						GCAGACAAACTATGCAGCATCC	0.589														6	0.00119808	0.0023	0.0029	5008	,	,		21258	0.0		0.001	False		,,,				2504	0.0					uc003odi.1		NA																	0				breast(1)|central_nervous_system(1)	2						c.(505-507)TATfs		estradiol 17 beta-dehydrogenase 8	NADH(DB00157)			2,3506		0,2,1752						2.7	1.0			48	10,6880		3,4,3438	no	frameshift	HSD17B8	NM_014234.3		3,6,5190	A1A1,A1R,RR		0.1451,0.057,0.1154				12,10386				SO:0001589	frameshift_variant	7923				estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr6:33173441_33173442delTA	D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	3554	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 30C, member 1"""	601417	"""FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"""	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.505_506delTA	6.37:g.33173441_33173442delTA	ENSP00000363794:p.Tyr169fs					uc003odj.1_5'Flank|MIR219-1_hsa-mir-219-1|MI0000296_5'Flank|RING1_uc011dqw.1_5'Flank|RING1_uc011dqx.1_5'Flank|RING1_uc003odk.2_5'Flank	p.Y169fs	NM_014234	NP_055049	Q92506	DHB8_HUMAN			5	532_533	+			169			NAD.	Proton acceptor (By similarity).	A6NLX7|Q5STP7|Q9UIQ1	Frame_Shift_Del	DEL	ENST00000374662.3	37	c.505_506delTA	CCDS4769.1																																																																																				0.589	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1	NM_014234		12	41	NA	NA	NA	NA	12	41	---	---	---	---
SLC35B2	347734	broad.mit.edu	37	6	44222449	44222451	+	In_Frame_Del	DEL	CTT	CTT	-	rs368956564		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:44222449_44222451delCTT	ENST00000393812.3	-	4	1434_1436	c.1291_1293delAAG	c.(1291-1293)aagdel	p.K431del	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000538577.1_In_Frame_Del_p.K338del|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000537814.1_In_Frame_Del_p.K298del|SLC35B2_ENST00000495706.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	431					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCCTCAAACCTTCTGCACAGGA	0.576																																						uc003oxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1291-1293)AAGdel		solute carrier family 35, member B2				1,4263		0,1,2131						3.7	1.0			109	0,8254		0,0,4127	no	coding	SLC35B2	NM_178148.2		0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12517				SO:0001651	inframe_deletion	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44222449_44222451delCTT	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.1291_1293delAAG	6.37:g.44222449_44222451delCTT	ENSP00000377401:p.Lys431del					SLC35B2_uc011dvt.1_In_Frame_Del_p.K334del|SLC35B2_uc011dvu.1_In_Frame_Del_p.K298del	p.K431del	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1427_1429	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		431					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	In_Frame_Del	DEL	ENST00000393812.3	37	c.1291_1293delAAG	CCDS34462.1																																																																																				0.576	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			77	64	NA	NA	NA	NA	77	64	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109867278	109867279	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:109867278_109867279delAT	ENST00000424296.2	-	26	3092_3093	c.3016_3017delAT	c.(3016-3018)atgfs	p.M1006fs	AK9_ENST00000355283.1_Frame_Shift_Del_p.M85fs|AK9_ENST00000341338.6_Frame_Shift_Del_p.M85fs	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1006	Adenylate kinase 2.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TCTTCCACACATAGTTTTGCCA	0.45																																						uc003ptn.2		NA																	0				ovary(1)	1						c.(3016-3018)ATGfs		adenylate kinase domain containing 1 isoform 1																																				SO:0001589	frameshift_variant	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109867278_109867279delAT	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3016_3017delAT	6.37:g.109867278_109867279delAT	ENSP00000410186:p.Met1006fs					AKD1_uc011eat.1_Frame_Shift_Del_p.M85fs	p.M1006fs	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			26	3093_3094	-			1006					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	ENST00000424296.2	37	c.3016_3017delAT	CCDS55048.1																																																																																				0.450	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		37	108	NA	NA	NA	NA	37	108	---	---	---	---
DAGLB	221955	broad.mit.edu	37	7	6452649	6452649	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:6452649delA	ENST00000297056.6	-	12	1613	c.1444delT	c.(1444-1446)tatfs	p.Y482fs	DAGLB_ENST00000425398.2_Frame_Shift_Del_p.Y353fs|DAGLB_ENST00000428902.2_Frame_Shift_Del_p.I341fs|DAGLB_ENST00000421761.2_3'UTR|DAGLB_ENST00000436575.1_Frame_Shift_Del_p.Y441fs	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	482					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTCTGAGAATATTCCTGCAGA	0.517																																						uc003sqa.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1444-1446)TATfs		diacylglycerol lipase, beta isoform 1							51.0	51.0	51.0					7																	6452649		2203	4300	6503	SO:0001589	frameshift_variant	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6452649delA	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1444delT	7.37:g.6452649delA	ENSP00000297056:p.Tyr482fs					DAGLB_uc003spy.2_Frame_Shift_Del_p.Y28fs|DAGLB_uc003spz.2_Frame_Shift_Del_p.Y179fs|DAGLB_uc011jwt.1_Frame_Shift_Del_p.Y296fs|DAGLB_uc011jwu.1_Frame_Shift_Del_p.Y353fs|DAGLB_uc003sqb.2_Frame_Shift_Del_p.Y201fs|DAGLB_uc003sqc.2_Frame_Shift_Del_p.Y201fs|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Frame_Shift_Del_p.Y441fs|DAGLB_uc011jww.1_RNA	p.Y482fs	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	12	1614	-		Ovarian(82;0.232)	482			Cytoplasmic (Potential).		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Frame_Shift_Del	DEL	ENST00000297056.6	37	c.1444delT	CCDS5350.1																																																																																				0.517	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		23	21	NA	NA	NA	NA	23	21	---	---	---	---
EIF4H	7458	broad.mit.edu	37	7	73604163	73604171	+	In_Frame_Del	DEL	TCGGTCACT	TCGGTCACT	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:73604163_73604171delTCGGTCACT	ENST00000265753.8	+	4	463_471	c.324_332delTCGGTCACT	c.(322-333)gatcggtcactt>gat	p.RSL109del	MIR590_ENST00000385008.1_RNA|EIF4H_ENST00000353999.6_In_Frame_Del_p.RSL109del|EIF4H_ENST00000495187.1_3'UTR	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	109	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						TGTTGGGCGATCGGTCACTTCGTGTGGAC	0.426																																						uc003uad.1		NA																	0					0						c.(322-333)GATCGGTCACTT>GAT		eukaryotic translation initiation factor 4H																																				SO:0001651	inframe_deletion	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73604163_73604171delTCGGTCACT		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.324_332delTCGGTCACT	7.37:g.73604163_73604171delTCGGTCACT	ENSP00000265753:p.Arg109_Leu111del					RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_In_Frame_Del_p.RSL109del|EIF4H_uc010lbm.2_In_Frame_Del_p.RSL109del|EIF4H_uc003uae.1_In_Frame_Del_p.RSL109del|EIF4H_uc003uaf.1_RNA|MIR590_hsa-mir-590|MI0003602_5'Flank	p.RSL109del	NM_022170	NP_071496	Q15056	IF4H_HUMAN			4	332_340	+			109_111			RRM.		A8K3R1|D3DXF6|D3DXF8	In_Frame_Del	DEL	ENST00000265753.8	37	c.324_332delTCGGTCACT	CCDS5564.1																																																																																				0.426	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		28	60	NA	NA	NA	NA	28	60	---	---	---	---
STEAP4	79689	broad.mit.edu	37	7	87908901	87908907	+	Frame_Shift_Del	DEL	TGTGGGC	TGTGGGC	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:87908901_87908907delTGTGGGC	ENST00000380079.4	-	5	1287_1293	c.1186_1192delGCCCACA	c.(1186-1194)gcccacaccfs	p.AHT396fs	STEAP4_ENST00000301959.5_Frame_Shift_Del_p.AHT220fs|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000594469.1_RNA|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	396					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)	p.A396A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TACACCAGGGTGTGGGCTGTACACAAG	0.411																																						uc003ujs.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(1186-1194)GCCCACACCfs		tumor necrosis factor, alpha-induced protein 9																																				SO:0001589	frameshift_variant	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87908901_87908907delTGTGGGC	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.1186_1192delGCCCACA	7.37:g.87908901_87908907delTGTGGGC	ENSP00000369419:p.Ala396fs					STEAP4_uc010lek.2_Frame_Shift_Del_p.A220fs	p.A396fs	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			5	1291_1297	-	Esophageal squamous(14;0.00802)		396_398			Helical; (Potential).		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Frame_Shift_Del	DEL	ENST00000380079.4	37	c.1186_1192delGCCCACA	CCDS43611.1																																																																																				0.411	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		9	44	NA	NA	NA	NA	9	44	---	---	---	---
