#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
ATP13A2	23400	broad.mit.edu	37	1	17314833	17314833	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:17314833C>T	ENST00000326735.8	-	24	2779	c.2746G>A	c.(2746-2748)Gtg>Atg	p.V916M	ATP13A2_ENST00000341676.5_Missense_Mutation_p.V872M|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Missense_Mutation_p.V911M			Q9NQ11	AT132_HUMAN	ATPase type 13A2	916					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACCATGGGCACGCACTCAATA	0.642																																						uc001baa.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2746-2748)Gtg>Atg		Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.							139.0	132.0	135.0					1																	17314833		2203	4300	6503	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17314833C>T	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2746G>A	1.37:g.17314833C>T	ENSP00000327214:p.Val916Met					ATP13A2_uc001bac.2_Missense_Mutation_p.V872M|ATP13A2_uc001bab.2_Missense_Mutation_p.V911M	p.V916M	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	23	2936	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	916					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.2746G>A	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799676	0.70567	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418	T;T;T;D	0.96774	0.05;0.05;0.05;-4.12	4.74	4.74	0.60224	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.97102	0.9053	M	0.67953	2.075	0.54753	D	0.999987	D;D;D	0.89917	0.994;1.0;0.989	P;P;P	0.59761	0.685;0.863;0.696	D	0.97117	0.9808	10	0.54805	T	0.06	-23.0228	15.2494	0.73532	0.0:1.0:0.0:0.0	.	872;911;916	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	M	916;872;911;112	ENSP00000327214:V916M;ENSP00000341115:V872M;ENSP00000413307:V911M;ENSP00000423065:V112M	ENSP00000327214:V916M	V	-	1	0	ATP13A2	17187420	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	3.679000	0.54634	2.451000	0.82905	0.561000	0.74099	GTG		0.642	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089	
CNKSR1	10256	broad.mit.edu	37	1	26507077	26507077	+	Silent	SNP	C	C	T	rs200570653		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:26507077C>T	ENST00000374253.5	+	2	225	c.186C>T	c.(184-186)ggC>ggT	p.G62G	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000361530.6_Silent_p.G62G|CNKSR1_ENST00000480348.2_3'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	62	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGGGCGGGGTGGAAC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17776	0.0		0.0	False		,,,				2504	0.0				NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(184-186)ggC>ggT		Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.		C		5,4401	11.4+/-27.6	0,5,2198	46.0	51.0	49.0		186	-3.8	0.2	1		49	0,8600		0,0,4300	no	coding-synonymous	CNKSR1	NM_006314.2		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		62/714	26507077	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26507077C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.186C>T	1.37:g.26507077C>T						CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Silent_p.G62G|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	p.G62G	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	1	244	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	62			SAM.		B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37	c.186C>T																																																																																					0.657	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314	
GJB4	127534	broad.mit.edu	37	1	35227182	35227182	+	Silent	SNP	C	C	T	rs374919180		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:35227182C>T	ENST00000339480.1	+	2	697	c.327C>T	c.(325-327)caC>caT	p.H109H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	109					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACCTGAAACACGGGCCCAATG	0.632																																						uc001bxw.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(325-327)caC>caT		Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	93.0	69.0	77.0		327	-0.6	1.0	1		77	0,8600		0,0,4300	no	coding-synonymous	GJB4	NM_153212.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		109/267	35227182	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227182C>T		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.327C>T	1.37:g.35227182C>T						GJB4_uc001bxv.1_Silent_p.H109H	p.H109H	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN			0	327	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	109					B3KQ82	Silent	SNP	ENST00000339480.1	37	c.327C>T	CCDS383.1																																																																																				0.632	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212	
MYSM1	114803	broad.mit.edu	37	1	59132729	59132729	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:59132729T>C	ENST00000472487.1	-	16	2051	c.2012A>G	c.(2011-2013)gAc>gGc	p.D671G	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	671	MPN.				chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					AGCTTGTGTGTCAATATCTCG	0.373																																						uc009wab.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2011-2013)gAc>gGc		Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.							78.0	78.0	78.0					1																	59132729		1854	4099	5953	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59132729T>C	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.2012A>G	1.37:g.59132729T>C	ENSP00000418734:p.Asp671Gly					MYSM1_uc001cza.3_Missense_Mutation_p.D77G|MYSM1_uc001czc.3_Non-coding_Transcript	p.D671G	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			15	2035	-	all_cancers(7;9.36e-06)		671			MPN.		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.2012A>G	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816749	0.70912	.	.	ENSG00000162601	ENST00000472487	T	0.55234	0.53	5.02	5.02	0.67125	.	0.096592	0.64402	D	0.000001	T	0.61850	0.2380	L	0.39020	1.185	0.53688	D	0.999972	D	0.64830	0.994	D	0.66716	0.946	T	0.65298	-0.6202	10	0.72032	D	0.01	-15.7716	14.0747	0.64882	0.0:0.0:0.0:1.0	.	671	Q5VVJ2	MYSM1_HUMAN	G	671	ENSP00000418734:D671G	ENSP00000418734:D671G	D	-	2	0	MYSM1	58905317	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.799000	0.69101	2.111000	0.64477	0.460000	0.39030	GAC		0.373	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481	
LRRC7	57554	broad.mit.edu	37	1	70505050	70505050	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:70505050C>T	ENST00000035383.5	+	19	3459	c.3429C>T	c.(3427-3429)taC>taT	p.Y1143Y	LRRC7_ENST00000310961.5_Silent_p.Y1148Y|LRRC7_ENST00000415775.2_Silent_p.Y427Y	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1143						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGATAGGTACGGCAGACCCC	0.557																																						uc001dep.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(3427-3429)taC>taT		Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.							64.0	68.0	67.0					1																	70505050		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505050C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3429C>T	1.37:g.70505050C>T						LRRC7_uc009wbg.3_Silent_p.Y427Y|LRRC7_uc001deq.3_Silent_p.Y384Y	p.Y1143Y	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			18	3459	+			1143					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.3429C>T	CCDS645.1																																																																																				0.557	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
TTF2	8458	broad.mit.edu	37	1	117603105	117603105	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:117603105C>T	ENST00000369466.4	+	2	101	c.57C>T	c.(55-57)gtC>gtT	p.V19V	RP11-27K13.3_ENST00000445523.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	19					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AGACCGGCGTCCGCGATGGCC	0.582																																						uc001egy.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(55-57)gtC>gtT		Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.							117.0	117.0	117.0					1																	117603105		2203	4300	6503	SO:0001819	synonymous_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117603105C>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.57C>T	1.37:g.117603105C>T						TTF2_uc001egx.1_Silent_p.V19V	p.V19V	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	1	77	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	19					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	ENST00000369466.4	37	c.57C>T	CCDS892.1																																																																																				0.582	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		
AQP10	89872	broad.mit.edu	37	1	154294516	154294516	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:154294516C>T	ENST00000324978.3	+	2	253	c.213C>T	c.(211-213)taC>taT	p.Y71Y	AQP10_ENST00000355197.4_Intron|AQP10_ENST00000484864.1_Silent_p.Y71Y	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	71					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGCCATCTACGTGGGTGGTA	0.557																																						uc001feu.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(211-213)taC>taT		Homo sapiens aquaporin 10 (AQP10), mRNA.							55.0	48.0	50.0					1																	154294516		2203	4297	6500	SO:0001819	synonymous_variant	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154294516C>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.213C>T	1.37:g.154294516C>T							p.Y71Y	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	253	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		71					Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	c.213C>T	CCDS1065.1																																																																																				0.557	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429	
PIK3C2B	5287	broad.mit.edu	37	1	204410639	204410639	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:204410639T>G	ENST00000367187.3	-	22	3765	c.3209A>C	c.(3208-3210)aAt>aCt	p.N1070T	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.N1042T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1070					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGATCCACATTTTGGAAGGA	0.527																																						uc001haw.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(3208-3210)aAt>aCt		Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.							116.0	111.0	113.0					1																	204410639		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204410639T>G	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3209A>C	1.37:g.204410639T>G	ENSP00000356155:p.Asn1070Thr					PIK3C2B_uc010pqv.2_Missense_Mutation_p.N1042T	p.N1070T	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		21	3688	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1070					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3209A>C	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678246	0.88542	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.79749	-1.3;-1.3	5.73	5.73	0.89815	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86577	0.5966	L	0.46819	1.47	0.43977	D	0.996666	D;D	0.69078	0.995;0.997	D;D	0.77004	0.971;0.989	D	0.87747	0.2589	10	0.72032	D	0.01	.	15.6894	0.77439	0.0:0.0:0.0:1.0	.	1042;1070	F5GWN5;O00750	.;P3C2B_HUMAN	T	1070;1042	ENSP00000356155:N1070T;ENSP00000400561:N1042T	ENSP00000356155:N1070T	N	-	2	0	PIK3C2B	202677262	1.000000	0.71417	0.884000	0.34674	0.986000	0.74619	7.996000	0.88334	2.173000	0.68751	0.528000	0.53228	AAT		0.527	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
CHRM3	1131	broad.mit.edu	37	1	240071079	240071079	+	Silent	SNP	C	C	T	rs111407169		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:240071079C>T	ENST00000255380.4	+	5	1107	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	110					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCTCTTAAGCCTGGCCTGTGC	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21244	0.0		0.0	False		,,,				2504	0.0					uc021plc.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(328-330)Ctg>Ttg		Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	C		3,4403	6.2+/-15.9	0,3,2200	112.0	92.0	99.0		328	5.9	1.0	1	dbSNP_132	99	0,8600		0,0,4300	no	coding-synonymous	CHRM3	NM_000740.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		110/591	240071079	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071079C>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.328C>T	1.37:g.240071079C>T						CHRM3_uc001hyp.3_Silent_p.L110L	p.L110L	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		0	328	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	110					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.328C>T	CCDS1616.1																																																																																				0.478	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740	
AKR1C1	1645	broad.mit.edu	37	10	5014817	5014817	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr10:5014817T>A	ENST00000380872.4	+	7	914	c.722T>A	c.(721-723)cTt>cAt	p.L241H	AKR1C1_ENST00000434459.2_Missense_Mutation_p.L241H|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	241					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GACCCAGTCCTTTGTGCCTTG	0.592																																					Colon(130;2054 2316 13360 15380)	uc001iho.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14						c.(721-723)cTt>cAt		Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						53.0	61.0	59.0					10																	5014817		2203	4295	6498	SO:0001583	missense	1645				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5014817T>A	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.722T>A	10.37:g.5014817T>A	ENSP00000370254:p.Leu241His					AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Missense_Mutation_p.L241H	p.L241H	NM_001353	NP_001344	P42330	AK1C3_HUMAN			11	1563	+			241					P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	37	c.722T>A	CCDS7061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.30|12.30	1.896675|1.896675	0.33535|0.33535	.|.	.|.	ENSG00000187134|ENSG00000187134	ENST00000442997|ENST00000434459;ENST00000380872	.|T;T	.|0.31247	.|1.5;1.5	1.97|1.97	1.97|1.97	0.26223|0.26223	.|NADP-dependent oxidoreductase domain (3);	.|0.117068	.|0.37393	.|N	.|0.002110	T|T	0.60599|0.60599	0.2281|0.2281	H|H	0.94847|0.94847	3.59|3.59	0.18873|0.18873	N|N	0.999986|0.999986	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.51949|0.51949	-0.8640|-0.8640	5|10	.|0.87932	.|D	.|0	.|.	7.9035|7.9035	0.29748|0.29748	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|241	.|Q04828	.|AK1C1_HUMAN	I|H	208|241	.|ENSP00000412248:L241H;ENSP00000370254:L241H	.|ENSP00000370254:L241H	F|L	+|+	1|2	0|0	AKR1C1|AKR1C1	5004817|5004817	0.361000|0.361000	0.24972|0.24972	0.003000|0.003000	0.11579|0.11579	0.351000|0.351000	0.29236|0.29236	4.270000|4.270000	0.58896|0.58896	1.162000|1.162000	0.42619|0.42619	0.254000|0.254000	0.18369|0.18369	TTT|CTT		0.592	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353	
SORCS3	22986	broad.mit.edu	37	10	107015536	107015536	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr10:107015536T>G	ENST00000369701.3	+	24	3541	c.3314T>G	c.(3313-3315)gTg>gGg	p.V1105G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1105					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAAGTCATTGTGTATGTCACA	0.438																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			0		p.V1105L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(3313-3315)gTg>gGg		Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.							113.0	98.0	103.0					10																	107015536		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107015536T>G	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3314T>G	10.37:g.107015536T>G	ENSP00000358715:p.Val1105Gly						p.V1105G	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	23	3541	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1105					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3314T>G	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.748169	0.89663	.	.	ENSG00000156395	ENST00000369701	T	0.26067	1.76	5.73	5.73	0.89815	.	0.066185	0.64402	D	0.000010	T	0.49133	0.1539	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39981	-0.9587	9	.	.	.	.	16.3265	0.82983	0.0:0.0:0.0:1.0	.	1105	Q9UPU3	SORC3_HUMAN	G	1105	ENSP00000358715:V1105G	.	V	+	2	0	SORCS3	107005526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.833000	0.62766	2.313000	0.78055	0.455000	0.32223	GTG		0.438	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
MADD	8567	broad.mit.edu	37	11	47307122	47307122	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:47307122G>A	ENST00000311027.5	+	14	2697	c.2532G>A	c.(2530-2532)ggG>ggA	p.G844G	MADD_ENST00000395336.3_Silent_p.G844G|MADD_ENST00000395344.3_Silent_p.G801G|MADD_ENST00000402799.1_Silent_p.G801G|MADD_ENST00000406482.1_Silent_p.G801G|MADD_ENST00000342922.4_Silent_p.G844G|MADD_ENST00000402192.2_Silent_p.G844G|MADD_ENST00000407859.3_Silent_p.G801G|MADD_ENST00000349238.3_Silent_p.G844G	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGGGCTTCGGGGGCATCATGT	0.532																																						uc001ner.1																			0		p.G844W(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(2530-2532)ggG>ggA		Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.							145.0	142.0	143.0					11																	47307122		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47307122G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2532G>A	11.37:g.47307122G>A						MADD_uc001neq.2_Silent_p.G844G|MADD_uc001nev.1_Silent_p.G801G|MADD_uc001nes.1_Silent_p.G801G|MADD_uc001net.1_Silent_p.G844G|MADD_uc009yln.1_Silent_p.G801G|MADD_uc001neu.1_Silent_p.G801G|MADD_uc001nez.2_Silent_p.G801G|MADD_uc001new.2_Silent_p.G844G|MADD_uc001nex.2_Silent_p.G844G	p.G844G	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	13	2723	+			844						Silent	SNP	ENST00000311027.5	37	c.2532G>A	CCDS7930.1																																																																																				0.532	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
OR5T3	390154	broad.mit.edu	37	11	56019879	56019879	+	Silent	SNP	C	C	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:56019879C>A	ENST00000303059.3	+	1	204	c.204C>A	c.(202-204)acC>acA	p.T68T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCTCTTTACCTTGATAGGCA	0.373																																						uc010rjd.2																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(202-204)acC>acA		Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.							101.0	102.0	101.0					11																	56019879		2201	4296	6497	SO:0001819	synonymous_variant	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56019879C>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.204C>A	11.37:g.56019879C>A							p.T68T	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			0	204	+	Esophageal squamous(21;0.00448)		68					Q6IFC7	Silent	SNP	ENST00000303059.3	37	c.204C>A	CCDS31524.1																																																																																				0.373	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747	
MS4A3	932	broad.mit.edu	37	11	59834575	59834575	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:59834575C>T	ENST00000278865.3	+	5	576	c.503C>T	c.(502-504)tCc>tTc	p.S168F	MS4A3_ENST00000358152.2_Missense_Mutation_p.S122F|MS4A3_ENST00000395032.2_Missense_Mutation_p.S45F|MS4A3_ENST00000534744.1_Missense_Mutation_p.S122F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	168						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TACATGGGCTCCATATCAAAT	0.343																																						uc001nom.3																			0				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(502-504)tCc>tTc		Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.							55.0	50.0	52.0					11																	59834575		2201	4295	6496	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59834575C>T	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.503C>T	11.37:g.59834575C>T	ENSP00000278865:p.Ser168Phe					MS4A3_uc001non.3_Missense_Mutation_p.S122F|MS4A3_uc001noo.3_Missense_Mutation_p.S45F	p.S168F	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			4	631	+		all_epithelial(135;0.245)	168					A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.503C>T	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	C	7.718	0.696558	0.15106	.	.	ENSG00000149516	ENST00000395032;ENST00000358152;ENST00000278865;ENST00000534744	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	4.32	2.43	0.29744	.	2.480590	0.01999	U	0.046155	T	0.06371	0.0164	M	0.81802	2.56	0.09310	N	1	B;B	0.25904	0.113;0.137	B;B	0.23018	0.025;0.043	T	0.52064	-0.8625	10	0.20519	T	0.43	-7.6185	6.3227	0.21227	0.0:0.7716:0.0:0.2284	.	122;168	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	F	45;122;168;122	ENSP00000378473:S45F;ENSP00000350872:S122F;ENSP00000278865:S168F;ENSP00000434117:S122F	ENSP00000278865:S168F	S	+	2	0	MS4A3	59591151	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-0.008000	0.12788	0.440000	0.26502	0.471000	0.43371	TCC		0.343	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1		
AHNAK	79026	broad.mit.edu	37	11	62300927	62300927	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:62300927T>G	ENST00000378024.4	-	5	1236	c.962A>C	c.(961-963)gAg>gCg	p.E321A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	321					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCTGGCCCTCACGCCCTGT	0.552																																						uc001ntl.3																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(961-963)gAg>gCg		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							69.0	72.0	71.0					11																	62300927		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62300927T>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.962A>C	11.37:g.62300927T>G	ENSP00000367263:p.Glu321Ala					AHNAK_uc001ntk.1_Intron	p.E321A	NM_001620	NP_001611	Q09666	AHNK_HUMAN			4	1262	-		Melanoma(852;0.155)	321					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.962A>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	6.516	0.463494	0.12402	.	.	ENSG00000124942	ENST00000378024	T	0.00730	5.77	5.23	2.78	0.32641	.	1.739540	0.04058	U	0.305801	T	0.01222	0.0040	L	0.59436	1.845	0.19300	N	0.999978	B	0.31209	0.313	B	0.32805	0.153	T	0.56884	-0.7905	10	0.09084	T	0.74	-2.4803	6.4548	0.21924	0.1566:0.0:0.1639:0.6795	.	321	Q09666	AHNK_HUMAN	A	321	ENSP00000367263:E321A	ENSP00000367263:E321A	E	-	2	0	AHNAK	62057503	0.004000	0.15560	0.136000	0.22124	0.259000	0.26198	0.979000	0.29500	0.262000	0.21774	0.528000	0.53228	GAG		0.552	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
MACROD1	28992	broad.mit.edu	37	11	63884137	63884137	+	Intron	SNP	A	A	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:63884137A>G	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Missense_Mutation_p.H133R|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CGGGAGCTGCACCTGCAGGAC	0.602																																						uc021qks.1																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(397-399)cAc>cGc		Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.							48.0	48.0	48.0					11																	63884137		2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884137A>G	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34573T>C	11.37:g.63884137A>G						MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.H133R	p.H133R	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN			0	398	+			105					Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.398A>G	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239568	0.58995	.	.	ENSG00000126500	ENST00000246841	T	0.56776	0.44	5.56	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	N	0.13140	0.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53669	-0.8406	10	0.39692	T	0.17	-43.3423	10.8219	0.46610	0.9229:0.0:0.0771:0.0	.	105	Q9NZU1	FLRT1_HUMAN	R	133	ENSP00000246841:H133R	ENSP00000246841:H133R	H	+	2	0	FLRT1	63640713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.514000	0.81750	2.114000	0.64651	0.454000	0.30748	CAC		0.602	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067	
KAT5	10524	broad.mit.edu	37	11	65482151	65482151	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:65482151C>T	ENST00000377046.3	+	8	1049	c.777C>T	c.(775-777)gtC>gtT	p.V259V	KAT5_ENST00000352980.4_Silent_p.V207V|KAT5_ENST00000534650.1_Silent_p.V48V|KAT5_ENST00000341318.4_Silent_p.V292V|KAT5_ENST00000530446.1_Silent_p.V240V	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	259	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CATTGCCTGTCCTCTACCTGT	0.582																																						uc001ofi.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(775-777)gtC>gtT		Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.							228.0	194.0	205.0					11																	65482151		2201	4297	6498	SO:0001819	synonymous_variant	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65482151C>T	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.777C>T	11.37:g.65482151C>T						KAT5_uc001ofj.3_Silent_p.V207V|KAT5_uc001ofk.3_Silent_p.V292V|KAT5_uc010roo.2_Silent_p.V240V|KAT5_uc001ofl.3_Silent_p.V48V	p.V259V	NM_006388	NP_006379	Q92993	KAT5_HUMAN			7	1043	+			259					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Silent	SNP	ENST00000377046.3	37	c.777C>T	CCDS31610.1																																																																																				0.582	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388	
APOBEC1	339	broad.mit.edu	37	12	7805333	7805333	+	Missense_Mutation	SNP	C	C	T	rs149648198		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:7805333C>T	ENST00000229304.4	-	3	163	c.143G>A	c.(142-144)cGg>cAg	p.R48Q		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	48					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CCAGATCTTCCGGCTCATGCC	0.453																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.3																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(142-144)cGg>cAg		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.		C	GLN/ARG	0,4406		0,0,2203	38.0	40.0	39.0		143	-9.0	0.0	12	dbSNP_134	39	2,8596		0,2,4297	no	missense	APOBEC1	NM_001644.3	43	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign	48/237	7805333	2,13002	2203	4299	6502	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805333C>T	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.143G>A	12.37:g.7805333C>T	ENSP00000229304:p.Arg48Gln					APOBEC1_uc001qtc.3_Missense_Mutation_p.R3Q	p.R48Q	NM_001644	NP_001635	P41238	ABEC1_HUMAN			2	177	-			48					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.143G>A	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	C	0.072	-1.199956	0.01581	0.0	2.33E-4	ENSG00000111701	ENST00000229304	T	0.61392	0.11	4.48	-8.96	0.00761	APOBEC-like, N-terminal (1);	2.214750	0.01687	N	0.026466	T	0.42471	0.1204	L	0.33485	1.01	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.33292	-0.9874	10	0.12766	T	0.61	2.4831	12.6624	0.56822	0.0:0.6113:0.2177:0.171	.	48	P41238	ABEC1_HUMAN	Q	48	ENSP00000229304:R48Q	ENSP00000229304:R48Q	R	-	2	0	APOBEC1	7696600	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.600000	0.00892	-2.894000	0.00314	-2.777000	0.00118	CGG		0.453	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644	
ATF7IP	55729	broad.mit.edu	37	12	14589059	14589059	+	Missense_Mutation	SNP	A	A	T	rs141409610		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:14589059A>T	ENST00000540793.1	+	3	1820	c.1665A>T	c.(1663-1665)aaA>aaT	p.K555N	ATF7IP_ENST00000544627.1_Missense_Mutation_p.K563N|ATF7IP_ENST00000543189.1_Missense_Mutation_p.K554N|ATF7IP_ENST00000261168.4_Missense_Mutation_p.K555N|ATF7IP_ENST00000536444.1_Missense_Mutation_p.K554N|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	555	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTAGACGAAAACGTTCTAAAT	0.348																																						uc001rbw.3																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(1663-1665)aaA>aaT		Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.							89.0	85.0	86.0					12																	14589059		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14589059A>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1665A>T	12.37:g.14589059A>T	ENSP00000444589:p.Lys555Asn					ATF7IP_uc010shs.1_Missense_Mutation_p.K554N|ATF7IP_uc001rbu.3_Missense_Mutation_p.K555N|ATF7IP_uc001rbv.1_Missense_Mutation_p.K554N|ATF7IP_uc001rbx.3_Missense_Mutation_p.K554N|ATF7IP_uc010sht.1_Missense_Mutation_p.K555N|ATF7IP_uc001rby.4_Missense_Mutation_p.K555N|ATF7IP_uc001rca.3_Missense_Mutation_p.K555N	p.K555N	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			3	1823	+			555			Glu-rich.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1665A>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778593	0.70107	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.33654	1.41;1.49;1.41;1.4;1.41	5.48	4.34	0.51931	.	0.000000	0.64402	D	0.000013	T	0.51160	0.1658	L	0.56769	1.78	0.49051	D	0.999742	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.997;0.998;0.997;0.997;0.998;0.998	T	0.51818	-0.8657	10	0.87932	D	0	-27.4705	6.5524	0.22442	0.7096:0.0:0.2904:0.0	.	563;554;554;555;554;166	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	N	555;554;554;563;555	ENSP00000261168:K555N;ENSP00000443179:K554N;ENSP00000445955:K554N;ENSP00000440440:K563N;ENSP00000444589:K555N	ENSP00000261168:K555N	K	+	3	2	ATF7IP	14480326	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.153000	0.31676	1.026000	0.39733	0.477000	0.44152	AAA		0.348	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
PCED1B	91523	broad.mit.edu	37	12	47629951	47629951	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:47629951G>A	ENST00000546455.1	+	4	1836	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	PCED1B_ENST00000432328.1_Missense_Mutation_p.V369I|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	369	Pro-rich.						hydrolase activity (GO:0016787)										AGGTTTCTTCGTCGAAGACAA	0.527																																						uc001rpq.3																			0		p.F368F(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35						c.(1105-1107)Gtc>Atc		Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.							154.0	151.0	152.0					12																	47629951		2203	4300	6503	SO:0001583	missense	91523						hydrolase activity	g.chr12:47629951G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1105G>A	12.37:g.47629951G>A	ENSP00000446688:p.Val369Ile					FAM113B_uc001rpn.3_Missense_Mutation_p.V369I|FAM113B_uc021qxi.1_Missense_Mutation_p.V369I	p.V369I	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			1	1630	+	Renal(347;0.138)|Lung SC(27;0.192)		369			Pro-rich.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1105G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.513115	0.44660	.	.	ENSG00000179715	ENST00000546455;ENST00000432328	T;T	0.30714	1.52;1.52	4.04	-2.95	0.05564	.	0.912441	0.08947	N	0.870727	T	0.13114	0.0318	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24728	-1.0152	10	0.25751	T	0.34	-0.0367	1.9608	0.03386	0.3021:0.0904:0.3862:0.2213	.	369	Q96HM7	F113B_HUMAN	I	369	ENSP00000446688:V369I;ENSP00000396040:V369I	ENSP00000396040:V369I	V	+	1	0	FAM113B	45916218	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.435000	0.06931	-0.931000	0.03746	-0.256000	0.11100	GTC		0.527	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
KRT84	3890	broad.mit.edu	37	12	52779219	52779219	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:52779219C>A	ENST00000257951.3	-	1	217	c.151G>T	c.(151-153)Ggt>Tgt	p.G51C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	51	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCGACTACCAAAGCTGCCA	0.582																																						uc001sah.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(151-153)Ggt>Tgt		Homo sapiens keratin 84 (KRT84), mRNA.							74.0	79.0	77.0					12																	52779219		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52779219C>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.151G>T	12.37:g.52779219C>A	ENSP00000257951:p.Gly51Cys						p.G51C	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	0	199	-	all_hematologic(5;0.12)		51			Head.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.151G>T	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250263	0.59212	.	.	ENSG00000161849	ENST00000257951	D	0.85556	-2.0	5.06	4.15	0.48705	.	0.143814	0.32563	N	0.005926	D	0.85847	0.5792	M	0.92970	3.365	0.37032	D	0.896722	B	0.25743	0.133	B	0.20384	0.029	D	0.85343	0.1097	10	0.49607	T	0.09	.	5.8773	0.18836	0.1692:0.6775:0.0:0.1532	.	51	Q9NSB2	KRT84_HUMAN	C	51	ENSP00000257951:G51C	ENSP00000257951:G51C	G	-	1	0	KRT84	51065486	0.988000	0.35896	0.995000	0.50966	0.853000	0.48598	1.575000	0.36493	1.470000	0.48102	0.543000	0.68304	GGT		0.582	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045	
KRT76	51350	broad.mit.edu	37	12	53164870	53164870	+	Missense_Mutation	SNP	C	C	T	rs143394911	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:53164870C>T	ENST00000332411.2	-	7	1450	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	466	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGTAGTCACGCAGGAGCCG	0.602													C|||	5	0.000998403	0.0	0.0	5008	,	,		14974	0.0		0.0	False		,,,				2504	0.0051					uc001sax.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1396-1398)cGt>cAt		Homo sapiens keratin 76 (KRT76), mRNA.		C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	118.0	107.0	111.0		1397	-0.6	0.0	12	dbSNP_134	111	0,8600		0,0,4300	yes	missense	KRT76	NM_015848.4	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	466/639	53164870	3,13003	2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53164870C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1397G>A	12.37:g.53164870C>T	ENSP00000330101:p.Arg466His						p.R466H	NM_015848	NP_056932	Q01546	K22O_HUMAN			6	1451	-			466			Coil 2.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.1397G>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.809933	0.70797	6.81E-4	0.0	ENSG00000185069	ENST00000332411	D	0.89810	-2.57	5.13	-0.635	0.11512	Filament (1);	0.188156	0.24917	N	0.034564	D	0.87474	0.6186	L	0.45137	1.4	0.18873	N	0.999981	D	0.54964	0.969	P	0.54210	0.745	T	0.81185	-0.1048	10	0.66056	D	0.02	.	10.2971	0.43631	0.0:0.4381:0.0:0.5619	.	466	Q01546	K22O_HUMAN	H	466	ENSP00000330101:R466H	ENSP00000330101:R466H	R	-	2	0	KRT76	51451137	0.000000	0.05858	0.040000	0.18447	0.999000	0.98932	0.217000	0.17603	-0.021000	0.14009	0.655000	0.94253	CGT		0.602	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848	
MMAB	326625	broad.mit.edu	37	12	109994906	109994906	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:109994906G>A	ENST00000545712.2	-	9	1073	c.680C>T	c.(679-681)gCa>gTa	p.A227V	MMAB_ENST00000540016.1_Missense_Mutation_p.A175V|MMAB_ENST00000266839.5_Missense_Mutation_p.A136V	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	227					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCATGGCTGCATATCTGGC	0.473																																						uc001tou.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(679-681)gCa>gTa		Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						116.0	105.0	108.0					12																	109994906		2203	4300	6503	SO:0001583	missense	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:109994906G>A	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.680C>T	12.37:g.109994906G>A	ENSP00000445920:p.Ala227Val					MMAB_uc001tov.3_Non-coding_Transcript|MMAB_uc010sxq.2_Missense_Mutation_p.A136V	p.A227V	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN			8	753	-			227					C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	c.680C>T	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964472	0.34659	.	.	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.94897	-3.55;-3.55	5.43	1.6	0.23607	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.427611	0.26314	N	0.025093	D	0.88844	0.6547	L	0.50919	1.6	0.09310	N	1	B;B;B	0.28850	0.045;0.135;0.225	B;B;B	0.20955	0.032;0.032;0.025	T	0.74805	-0.3540	10	0.14656	T	0.56	-0.5587	7.9704	0.30124	0.3134:0.0:0.6866:0.0	.	136;227;227	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	V	227;136	ENSP00000445920:A227V;ENSP00000266839:A136V	ENSP00000266839:A136V	A	-	2	0	MMAB	108479289	0.484000	0.25964	0.006000	0.13384	0.783000	0.44284	2.273000	0.43381	0.272000	0.22027	0.561000	0.74099	GCA		0.473	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2		
ZNF410	57862	broad.mit.edu	37	14	74360573	74360573	+	Missense_Mutation	SNP	T	T	C	rs201376759	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:74360573T>C	ENST00000555044.1	+	3	301	c.107T>C	c.(106-108)aTt>aCt	p.I36T	ZNF410_ENST00000324593.6_Missense_Mutation_p.I36T|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.I36T|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000334521.4_5'UTR|ZNF410_ENST00000540593.1_Missense_Mutation_p.I36T|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000556797.1_5'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GCTAAAGATATTACTTGCTTG	0.443																																						uc010arz.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(106-108)aTt>aCt		Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.							150.0	135.0	140.0					14																	74360573		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74360573T>C	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.107T>C	14.37:g.74360573T>C	ENSP00000451763:p.Ile36Thr					ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010ary.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_5'UTR|ZNF410_uc001xoz.2_Missense_Mutation_p.I36T|ZNF410_uc001xpb.2_Missense_Mutation_p.I36T|ZNF410_uc010tug.2_5'UTR|ZNF410_uc010tuh.2_Missense_Mutation_p.I36T	p.I36T	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	2	557	+			36					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.107T>C	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.394962	0.62066	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000557495;ENST00000556659;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000556160;ENST00000554797	T;T;T;T	0.12147	2.71;2.76;2.72;2.72	5.78	4.62	0.57501	.	0.000000	0.43579	D	0.000546	T	0.11623	0.0283	N	0.24115	0.695	0.80722	D	1	B;P;B;P	0.48640	0.0;0.913;0.007;0.596	B;B;B;B	0.44278	0.0;0.445;0.005;0.108	T	0.05257	-1.0896	10	0.44086	T	0.13	.	12.0693	0.53607	0.0:0.0686:0.0:0.9314	.	36;36;36;36	B4DR78;B4DDV5;Q86VK4-3;Q86VK4	.;.;.;ZN410_HUMAN	T	36;36;43;36;36;36;36;36;36	ENSP00000442228:I36T;ENSP00000323293:I36T;ENSP00000407130:I36T;ENSP00000451763:I36T	ENSP00000323293:I36T	I	+	2	0	ZNF410	73430326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.902000	0.56310	2.198000	0.70561	0.528000	0.53228	ATT		0.443	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188	
GPR65	8477	broad.mit.edu	37	14	88478073	88478073	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:88478073C>T	ENST00000267549.3	+	2	1440	c.882C>T	c.(880-882)acC>acT	p.T294T	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	294					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GTTTTGTAACCGAAACAGGAA	0.353																																						uc021rxh.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(880-882)acC>acT		Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.							100.0	94.0	96.0					14																	88478073		2203	4300	6503	SO:0001819	synonymous_variant	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88478073C>T	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.882C>T	14.37:g.88478073C>T						GPR65_uc001xvv.3_Silent_p.T294T	p.T294T	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			0	882	+			294					O75819	Silent	SNP	ENST00000267549.3	37	c.882C>T	CCDS9879.1																																																																																				0.353	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4		
DICER1	23405	broad.mit.edu	37	14	95557393	95557393	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:95557393C>T	ENST00000526495.1	-	28	5872	c.5581G>A	c.(5581-5583)Gaa>Aaa	p.E1861K	DICER1_ENST00000343455.3_Missense_Mutation_p.E1861K|DICER1_ENST00000556045.1_Missense_Mutation_p.E759K|DICER1_ENST00000393063.1_Missense_Mutation_p.E1861K|DICER1_ENST00000527414.1_Missense_Mutation_p.E1861K|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000541352.1_Nonsense_Mutation_p.W1806*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1861	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTTTCTGGTTCCATTTCAAGC	0.323			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5581-5583)Gaa>Aaa		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.							59.0	55.0	56.0					14																	95557393		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557393C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5581G>A	14.37:g.95557393C>T	ENSP00000437256:p.Glu1861Lys					DICER1_uc010avh.1_Missense_Mutation_p.E759K|DICER1_uc021sbc.1_Nonsense_Mutation_p.W1806*|DICER1_uc001ydv.2_Missense_Mutation_p.E1851K|DICER1_uc001ydx.2_Missense_Mutation_p.E1861K	p.E1861K	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	26	5793	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1861			DRBM.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5581G>A	CCDS9931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.410973|12.410973	0.99665|0.99665	.|.	.|.	ENSG00000100697|ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045|ENST00000541352	T;T;T;T;T|.	0.62788|.	0.0;0.0;0.0;0.0;0.0|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Double-stranded RNA-binding (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77384|.	0.4122|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;D|.	0.69078|.	0.354;0.997|.	B;D|.	0.72338|.	0.199;0.977|.	T|.	0.73820|.	-0.3862|.	9|.	0.07813|.	T|.	0.8|.	-26.1126|-26.1126	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	759;1861|.	B3KRG4;Q9UPY3|.	.;DICER_HUMAN|.	K|X	1861;1861;1861;1861;759|1806	ENSP00000343745:E1861K;ENSP00000437256:E1861K;ENSP00000376783:E1861K;ENSP00000435681:E1861K;ENSP00000451041:E759K|.	ENSP00000343745:E1861K|.	E|W	-|-	1|3	0|0	DICER1|DICER1	94627146|94627146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.348000|7.348000	0.79366|0.79366	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.323	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		
ZSCAN2	54993	broad.mit.edu	37	15	85164337	85164337	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr15:85164337A>G	ENST00000448803.2	+	3	1203	c.911A>G	c.(910-912)aAg>aGg	p.K304R	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.K303R|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.K154R|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.K304R|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	304					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACGGGGGAAAAGCCCTTCCAG	0.577																																						uc002bkr.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(910-912)aAg>aGg		Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.							63.0	64.0	63.0					15																	85164337		2203	4299	6502	SO:0001583	missense	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164337A>G	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.911A>G	15.37:g.85164337A>G	ENSP00000410198:p.Lys304Arg					ZSCAN2_uc010bmz.1_Missense_Mutation_p.K302R|ZSCAN2_uc010bna.3_Missense_Mutation_p.K154R|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron	p.K304R	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	2	1137	+			304					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	c.911A>G	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	A	15.23	2.770827	0.49680	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.51	4.51	0.55191	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000014	T	0.29321	0.0730	N	0.16478	0.41	0.80722	D	1	D;P	0.62365	0.991;0.941	D;P	0.63113	0.911;0.708	T	0.04281	-1.0963	9	.	.	.	-36.3644	12.0575	0.53544	1.0:0.0:0.0:0.0	.	304;304	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	R	304;304;154;303;285	ENSP00000410198:K304R;ENSP00000445451:K304R;ENSP00000351257:K154R;ENSP00000325123:K303R	.	K	+	2	0	ZSCAN2	82965341	0.909000	0.30893	0.994000	0.49952	0.995000	0.86356	1.924000	0.40065	1.789000	0.52484	0.533000	0.62120	AAG		0.577	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894	
PDZD9	255762	broad.mit.edu	37	16	21995750	21995750	+	Silent	SNP	G	G	A	rs146108684	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:21995750G>A	ENST00000424898.2	-	4	695	c.633C>T	c.(631-633)gaC>gaT	p.D211D	PDZD9_ENST00000537222.2_Silent_p.D151D|PDZD9_ENST00000286143.6_Silent_p.D149D			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	211										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						CTTTCTTGTCGTCTCTGTGAA	0.423																																						uc021ter.1																			0		p.D150E(1)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						c.(451-453)gaC>gaT		Homo sapiens PDZ domain containing 9 (PDZD9), transcript variant 1, mRNA.		G		1,4395	2.1+/-5.4	0,1,2197	240.0	220.0	227.0		453	-8.9	0.0	16	dbSNP_134	227	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDZD9	NM_173806.3		0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154		151/205	21995750	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	255762							g.chr16:21995750G>A	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.633C>T	16.37:g.21995750G>A						PDZD9_uc002dka.2_Silent_p.D149D	p.D151D	NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN			2	516	-			211					F5GWW8	Silent	SNP	ENST00000424898.2	37	c.453C>T																																																																																					0.423	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806	
IL27	246778	broad.mit.edu	37	16	28515112	28515112	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:28515112C>T	ENST00000356897.1	-	3	229	c.207G>A	c.(205-207)gcG>gcA	p.A69A		NM_145659.3	NP_663634.2	Q8TAD2	IL17D_HUMAN	interleukin 27	0					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GGTGAGATTCCGCCTGGGGGG	0.632																																						uc002dqc.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(205-207)gcG>gcA		Homo sapiens interleukin 27 (IL27), mRNA.							32.0	35.0	34.0					16																	28515112		2197	4300	6497	SO:0001819	synonymous_variant	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28515112C>T	AY099296	CCDS10633.1	16p11	2011-07-21	2003-12-17	2003-12-19	ENSG00000197272	ENSG00000197272		"""Interleukins and interleukin receptors"""	19157	protein-coding gene	gene with protein product		608273	"""interleukin 30"""	IL30		12121660	Standard	NM_145659		Approved	IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873	uc002dqc.3	Q8NEV9	OTTHUMG00000097023	ENST00000356897.1:c.207G>A	16.37:g.28515112C>T						NPIPL1_uc010vct.2_Intron	p.A69A	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN			2	230	-			69					B1AM69	Silent	SNP	ENST00000356897.1	37	c.207G>A	CCDS10633.1																																																																																				0.632	IL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214114.1	NM_145659	
HEATR3	55027	broad.mit.edu	37	16	50106625	50106625	+	Splice_Site	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:50106625G>A	ENST00000299192.7	+	5	813	c.622G>A	c.(622-624)Gca>Aca	p.A208T	HEATR3_ENST00000285767.4_Splice_Site_p.A122T	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	208										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TATTTCAGTAGGTAAGTGAAG	0.348																																						uc002efw.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.e5+1		Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.							176.0	161.0	166.0					16																	50106625		2198	4300	6498	SO:0001630	splice_region_variant	55027						binding	g.chr16:50106625G>A	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.622+1G>A	16.37:g.50106625G>A						HEATR3_uc021thv.1_Splice_Site_p.A122_splice|HEATR3_uc002efx.3_Splice_Site_p.A122_splice	p.A208_splice	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN			5	784	+			208					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.622_splice	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279060	0.95489	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.68765	-0.35;-0.35	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	T	0.83074	-0.0141	10	0.54805	T	0.06	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	122;208	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	T	122;208	ENSP00000285767:A122T;ENSP00000299192:A208T	ENSP00000285767:A122T	A	+	1	0	HEATR3	48664126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	2.824000	0.97209	0.655000	0.94253	GCA		0.348	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	Missense_Mutation
RABEP1	9135	broad.mit.edu	37	17	5286437	5286437	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr17:5286437G>A	ENST00000546142.2	+	18	2695	c.2508G>A	c.(2506-2508)cgG>cgA	p.R836R	RABEP1_ENST00000262477.6_Silent_p.R836R|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Silent_p.R803R|RABEP1_ENST00000537505.1_Silent_p.R793R|RABEP1_ENST00000341923.6_Silent_p.R803R			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	836					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)	p.R836R(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCGGATCCGGCAAGCTGACT	0.473																																						uc002gbm.4																			1	Substitution - coding silent(1)	p.R836R(1)	lung(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(2506-2508)cgG>cgA		Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.							70.0	75.0	74.0					17																	5286437		2154	4296	6450	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5286437G>A	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2508G>A	17.37:g.5286437G>A						RABEP1_uc010vsw.1_Silent_p.R793R|RABEP1_uc002gbl.4_Silent_p.R803R|NUP88_uc002gbn.3_Intron	p.R836R	NM_004703	NP_004694	Q15276	RABE1_HUMAN			17	2732	+			836					B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.2508G>A	CCDS45592.1																																																																																				0.473	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703	
MYH13	8735	broad.mit.edu	37	17	10215363	10215363	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr17:10215363C>T	ENST00000418404.3	-	31	4559	c.4396G>A	c.(4396-4398)Gaa>Aaa	p.E1466K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1466K|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1466					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCTGGCTTTCGTCCAGCTTT	0.517																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4396-4398)Gaa>Aaa		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							71.0	70.0	71.0					17																	10215363		1984	4173	6157	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10215363C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4396G>A	17.37:g.10215363C>T	ENSP00000404570:p.Glu1466Lys						p.E1466K	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			31	4486	-			1466					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4396G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008331	0.93346	.	.	ENSG00000006788	ENST00000252172	D	0.85861	-2.04	4.45	4.45	0.53987	Myosin tail (1);	.	.	.	.	D	0.93252	0.7850	M	0.89030	3	0.44627	D	0.997607	D	0.62365	0.991	D	0.70487	0.969	D	0.94317	0.7550	9	0.62326	D	0.03	.	17.6487	0.88157	0.0:1.0:0.0:0.0	.	1466	Q9UKX3	MYH13_HUMAN	K	1466	ENSP00000252172:E1466K	ENSP00000252172:E1466K	E	-	1	0	MYH13	10156088	1.000000	0.71417	0.065000	0.19835	0.950000	0.60333	5.893000	0.69798	2.465000	0.83290	0.655000	0.94253	GAA		0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
ATG4D	84971	broad.mit.edu	37	19	10655709	10655709	+	Silent	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:10655709T>G	ENST00000309469.4	+	3	569	c.396T>G	c.(394-396)ccT>ccG	p.P132P	ATG4D_ENST00000540862.1_5'UTR	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	132					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGCCCCTTCCTGGGGGCTGCC	0.632																																						uc002mov.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(394-396)ccT>ccG		Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.							92.0	101.0	98.0					19																	10655709		2203	4299	6502	SO:0001819	synonymous_variant	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10655709T>G	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.396T>G	19.37:g.10655709T>G						ATG4D_uc010xlg.2_Silent_p.P155P|ATG4D_uc010xlh.2_Silent_p.P69P|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_5'UTR	p.P132P	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		2	516	+			132					Q969K0	Silent	SNP	ENST00000309469.4	37	c.396T>G	CCDS12241.1																																																																																				0.632	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885	
ZNF208	7757	broad.mit.edu	37	19	22156647	22156647	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:22156647A>G	ENST00000397126.4	-	4	1337	c.1189T>C	c.(1189-1191)Tac>Cac	p.Y397H	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCACATTTGTAGGGTTTCTCT	0.388																																						uc021urr.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1189-1191)Tac>Cac		Homo sapiens zinc finger protein 208 (ZNF208), mRNA.							37.0	41.0	39.0					19																	22156647		1993	4212	6205	SO:0001583	missense	7757							g.chr19:22156647A>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1189T>C	19.37:g.22156647A>G	ENSP00000380315:p.Tyr397His					ZNF208_uc002nqo.1_Intron	p.Y397H	NM_007153	NP_009084					3	1338	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1189T>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.134362	0.37630	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.21734	1.99	2.65	1.6	0.23607	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30324	0.0761	.	.	.	0.09310	N	1	D	0.65815	0.995	P	0.55260	0.772	T	0.10823	-1.0613	8	0.59425	D	0.04	.	6.2383	0.20776	0.8626:0.0:0.1374:0.0	.	397	O43345	ZN208_HUMAN	H	397	ENSP00000380315:Y397H	ENSP00000380315:Y397H	Y	-	1	0	ZNF208	21948487	0.002000	0.14202	0.026000	0.17262	0.010000	0.07245	0.890000	0.28295	0.030000	0.15379	0.254000	0.18369	TAC		0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
TRPM4	54795	broad.mit.edu	37	19	49671909	49671910	+	In_Frame_Ins	INS	-	-	GCA			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:49671909_49671910insGCA	ENST00000252826.5	+	6	838_839	c.712_713insGCA	c.(712-714)ggc>gGCAgc	p.238_239insS	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_In_Frame_Ins_p.238_239insS	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	238					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGTGGACGACGGCACACACGGC	0.658																																						uc002pmw.3																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(712-714)ggc>gGCAgc		Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.																																				SO:0001652	inframe_insertion	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671909_49671910insGCA	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.713_715dupGCA	19.37:g.49671910_49671912dupGCA	ENSP00000252826:p.Gly238_Thr239insSer					TRPM4_uc010emu.3_In_Frame_Ins_p.238_239insS|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_In_Frame_Ins_p.64_65insS|TRPM4_uc010emv.3_In_Frame_Ins_p.123_124insS|TRPM4_uc010yal.2_5'UTR	p.238_239insS	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	5	820_821	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	238					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	In_Frame_Ins	INS	ENST00000252826.5	37	c.712_713insGCA	CCDS33073.1																																																																																				0.658	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636	
LENG1	79165	broad.mit.edu	37	19	54660572	54660573	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:54660572_54660573delTC	ENST00000222224.3	-	3	689_690	c.503_504delGA	c.(502-504)agafs	p.R168fs		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	168										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCCGTGCTGTCTCTTCTTCCC	0.634																																						uc002qdm.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8						c.(502-504)agafs		Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.																																				SO:0001589	frameshift_variant	79165							g.chr19:54660572_54660573delTC	AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.503_504delGA	19.37:g.54660574_54660575delTC	ENSP00000222224:p.Arg168fs						p.R168fs	NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN			2	516_517	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		168					Q9HCU7	Frame_Shift_Del	DEL	ENST00000222224.3	37	c.503_504delGA	CCDS12881.1																																																																																				0.634	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	NM_024316	
FAM136A	84908	broad.mit.edu	37	2	70524463	70524463	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:70524463C>T	ENST00000037869.3	-	3	453	c.375G>A	c.(373-375)atG>atA	p.M125I	FAM136A_ENST00000430566.1_Missense_Mutation_p.M232I|FAM136A_ENST00000450256.1_3'UTR	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	125						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TCTTCTTGGTCATAGTTGGGA	0.433																																						uc002sgq.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(373-375)atG>atA		Homo sapiens family with sequence similarity 136, member A (FAM136A), mRNA.							126.0	116.0	119.0					2																	70524463		2203	4300	6503	SO:0001583	missense	84908					mitochondrion	protein binding	g.chr2:70524463C>T	BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"""hypothetical protein FLJ14668"""					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.375G>A	2.37:g.70524463C>T	ENSP00000037869:p.Met125Ile					FAM136A_uc010fdp.3_Non-coding_Transcript	p.M125I	NM_032822	NP_116211	Q96C01	F136A_HUMAN			2	452	-			125					Q96SS3	Missense_Mutation	SNP	ENST00000037869.3	37	c.375G>A	CCDS1904.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927328	0.73327	.	.	ENSG00000035141	ENST00000037869;ENST00000430566	.	.	.	4.83	4.83	0.62350	.	0.045110	0.85682	D	0.000000	T	0.60586	0.2280	L	0.54863	1.705	0.53005	D	0.99996	P	0.36110	0.537	B	0.39771	0.309	T	0.57659	-0.7773	9	0.20519	T	0.43	.	16.8534	0.86000	0.0:1.0:0.0:0.0	.	125	Q96C01	F136A_HUMAN	I	125;232	.	ENSP00000037869:M125I	M	-	3	0	FAM136A	70377967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.061000	0.64319	2.361000	0.80049	0.561000	0.74099	ATG		0.433	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251869.2	NM_032822	
Unknown	0	broad.mit.edu	37	2	73928290	73928290	+	IGR	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:73928290C>T								ALMS1P (15587 upstream) : TPRKB (28666 downstream)																							AAGGGCCCCCCCAAGTAAGAG	0.612																																						uc002sjk.1																			0											c.(139-141)gGg>gAg		Homo sapiens N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) (NAT8B), mRNA.							63.0	72.0	69.0					2																	73928290		2202	4300	6502	SO:0001628	intergenic_variant	51471				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity	g.chr2:73928290C>T																													2.37:g.73928290C>T							p.G47E	NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN			1	175	-			48						Missense_Mutation	SNP		37	c.140G>A																																																																																				0	0.612								
CCDC138	165055	broad.mit.edu	37	2	109410997	109410997	+	Splice_Site	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:109410997T>C	ENST00000295124.4	+	5	456	c.396T>C	c.(394-396)gtT>gtC	p.V132V	CCDC138_ENST00000412964.2_Splice_Site_p.V132V|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	132										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TCTTTGCAGTTGCCTTGCCAA	0.363																																						uc002ten.1																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.e5-1		Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.							71.0	69.0	70.0					2																	109410997		2203	4300	6503	SO:0001630	splice_region_variant	165055							g.chr2:109410997T>C	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.395-1T>C	2.37:g.109410997T>C						CCDC138_uc002teo.1_Splice_Site_p.V132_splice|CCDC138_uc002tep.1_Splice_Site|CCDC138_uc010fjm.1_Splice_Site	p.V132_splice	NM_144978	NP_659415	Q96M89	CC138_HUMAN			5	455	+			132					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Silent	SNP	ENST00000295124.4	37	c.395_splice	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	T	2.824	-0.244201	0.05906	.	.	ENSG00000163006	ENST00000456512	.	.	.	5.76	2.0	0.26442	.	.	.	.	.	T	0.25121	0.0610	.	.	.	0.21897	N	0.999482	.	.	.	.	.	.	T	0.21245	-1.0251	4	.	.	.	.	4.5641	0.12175	0.1328:0.2189:0.0:0.6482	.	.	.	.	S	30	.	.	L	+	2	0	CCDC138	108777429	0.001000	0.12720	0.011000	0.14972	0.105000	0.19272	0.492000	0.22435	0.439000	0.26476	0.459000	0.35465	TTG		0.363	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978	Silent
POTEF	728378	broad.mit.edu	37	2	130877735	130877735	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:130877735G>A	ENST00000409914.2	-	3	753	c.354C>T	c.(352-354)ggC>ggT	p.G118G	POTEF_ENST00000357462.5_Silent_p.G118G|POTEF_ENST00000360967.5_Silent_p.G118G|POTEF_ENST00000361163.4_Silent_p.G118G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	118					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCCCCAAGCGCCCACCTTGC	0.587																																						uc010fmh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(352-354)ggC>ggT		Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.							60.0	80.0	74.0					2																	130877735		2202	4298	6500	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130877735G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.354C>T	2.37:g.130877735G>A							p.G118G	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			2	754	-			118					A6NC34	Silent	SNP	ENST00000409914.2	37	c.354C>T	CCDS46409.1																																																																																				0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
LRP1B	53353	broad.mit.edu	37	2	141986959	141986959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:141986959C>A	ENST00000389484.3	-	6	1614	c.643G>T	c.(643-645)Gag>Tag	p.E215*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	215					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)		TAGAAAACCTCAATTGTTTCA	0.284										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				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						c.(643-645)Gag>Tag		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.							36.0	39.0	38.0					2																	141986959		2200	4288	6488	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141986959C>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.643G>T	2.37:g.141986959C>A	ENSP00000374135:p.Glu215*	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.E215*	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)	5	1615	-		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)	215					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.643G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	44	10.813416	0.99471	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	4.87	4.87	0.63330	.	0.191423	0.34223	U	0.004150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.6296	0.88103	0.0:1.0:0.0:0.0	.	.	.	.	X	215;153	.	ENSP00000374135:E215X	E	-	1	0	LRP1B	141703429	1.000000	0.71417	0.991000	0.47740	0.338000	0.28826	2.974000	0.49272	2.265000	0.75225	0.585000	0.79938	GAG		0.284	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
PLCL1	5334	broad.mit.edu	37	2	198949321	198949321	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:198949321C>T	ENST00000428675.1	+	2	1478	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y	PLCL1_ENST00000437704.2_Silent_p.Y262Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	360					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TAAGGAGATACGAACTTTCTG	0.388																																						uc010fsp.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1078-1080)taC>taT		Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	Quinacrine(DB01103)						108.0	101.0	104.0					2																	198949321		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949321C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1080C>T	2.37:g.198949321C>T						PLCL1_uc002uuv.4_Silent_p.Y281Y	p.Y360Y	NM_006226	NP_006217	Q15111	PLCL1_HUMAN			1	1478	+			360					Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.1080C>T	CCDS2326.2																																																																																				0.388	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
NAPB	63908	broad.mit.edu	37	20	23383673	23383673	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr20:23383673A>T	ENST00000377026.4	-	2	220	c.135T>A	c.(133-135)taT>taA	p.Y45*	NAPB_ENST00000398425.3_5'UTR|NAPB_ENST00000432543.2_Nonsense_Mutation_p.Y45*|NAPB_ENST00000472855.1_5'UTR	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	45					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CAGCTCTGGTATACATTTCAC	0.338																																						uc002wtb.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12						c.(133-135)taT>taA		Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, beta (NAPB), mRNA.							103.0	95.0	98.0					20																	23383673		2202	4299	6501	SO:0001587	stop_gained	63908				intracellular protein transport|vesicle-mediated transport	membrane		g.chr20:23383673A>T	AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.135T>A	20.37:g.23383673A>T	ENSP00000366225:p.Tyr45*					NAPB_uc002wta.3_Nonsense_Mutation_p.Y45*|NAPB_uc002wtc.3_5'UTR|NAPB_uc002wtd.4_Non-coding_Transcript|NAPB_uc010zst.1_Nonsense_Mutation_p.Y45*	p.Y45*	NM_022080	NP_071363	Q9H115	SNAB_HUMAN			1	252	-	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)		45					B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Nonsense_Mutation	SNP	ENST00000377026.4	37	c.135T>A	CCDS13152.1	.	.	.	.	.	.	.	.	.	.	A	29.4	4.999196	0.93227	.	.	ENSG00000125814	ENST00000377026;ENST00000432543;ENST00000431864	.	.	.	5.95	1.27	0.21489	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4603	8.8924	0.35441	0.6186:0.0:0.3814:0.0	.	.	.	.	X	45;45;2	.	ENSP00000366225:Y45X	Y	-	3	2	NAPB	23331673	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.538000	0.36094	0.157000	0.19338	-0.290000	0.09829	TAT		0.338	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078317.2	NM_022080	
DPM1	8813	broad.mit.edu	37	20	49576077	49576077	+	5'Flank	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr20:49576077C>T	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Missense_Mutation_p.A233V|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CCACCCCCAGCGGAGACAGTG	0.622																																						uc002xvy.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(697-699)gCg>gTg		Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.							57.0	61.0	60.0					20																	49576077		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576077C>T	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576077C>T	Exception_encountered					DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.A233V	NM_014484	NP_055299	O95396	MOCS3_HUMAN			0	715	+			233					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.698C>T	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457704	0.63401	.	.	ENSG00000124217	ENST00000244051	T	0.31247	1.5	5.19	4.25	0.50352	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);MoeZ/MoeB (1);	0.249726	0.40064	N	0.001181	T	0.26557	0.0649	L	0.58583	1.82	0.24446	N	0.994502	P	0.43231	0.801	B	0.32677	0.15	T	0.14254	-1.0479	9	.	.	.	-8.1632	13.4415	0.61117	0.0:0.9243:0.0:0.0757	.	233	O95396	MOCS3_HUMAN	V	233	ENSP00000244051:A233V	.	A	+	2	0	MOCS3	49009484	0.993000	0.37304	0.982000	0.44146	0.925000	0.55904	5.446000	0.66600	1.173000	0.42796	0.561000	0.74099	GCG		0.622	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859	
PRDM15	63977	broad.mit.edu	37	21	43279747	43279747	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr21:43279747C>T	ENST00000269844.3	-	9	1095	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	PRDM15_ENST00000422911.1_Missense_Mutation_p.G66S|PRDM15_ENST00000447207.2_Missense_Mutation_p.G29S|PRDM15_ENST00000398548.1_Missense_Mutation_p.G66S|PRDM15_ENST00000538201.1_Missense_Mutation_p.G29S	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	329					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACCACTGGGCCCAGCTCGGGA	0.597																																						uc002yzq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(985-987)Ggc>Agc		Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.							82.0	65.0	70.0					21																	43279747		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43279747C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.985G>A	21.37:g.43279747C>T	ENSP00000269844:p.Gly329Ser					PRDM15_uc002yzo.3_Missense_Mutation_p.G66S|PRDM15_uc002yzp.3_Missense_Mutation_p.G66S|PRDM15_uc002yzr.1_Missense_Mutation_p.G66S	p.G329S	NM_022115	NP_071398	P57071	PRD15_HUMAN			8	1096	-			329					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.985G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389119	0.95988	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.71	4.81	4.81	0.61882	.	.	.	.	.	T	0.78007	0.4216	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.82131	-0.0609	9	0.87932	D	0	-19.3518	17.8732	0.88817	0.0:1.0:0.0:0.0	.	329;66;66	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	S	66;66;29;29;329;29	ENSP00000408592:G66S;ENSP00000381556:G66S;ENSP00000444044:G29S;ENSP00000390245:G29S;ENSP00000269844:G329S	ENSP00000269844:G329S	G	-	1	0	PRDM15	42152816	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.564000	0.82326	2.202000	0.70862	0.591000	0.81541	GGC		0.597	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	
SEC14L3	266629	broad.mit.edu	37	22	30857619	30857619	+	Silent	SNP	G	G	A	rs139964800	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr22:30857619G>A	ENST00000215812.4	-	10	924	c.834C>T	c.(832-834)taC>taT	p.Y278Y	SEC14L3_ENST00000401751.1_Silent_p.Y219Y|SEC14L3_ENST00000540910.1_Silent_p.Y201Y|SEC14L3_ENST00000402286.1_Silent_p.Y201Y|SEC14L3_ENST00000403066.1_Silent_p.Y219Y|SEC14L3_ENST00000415957.2_Silent_p.Y219Y|SEC14L3_ENST00000539629.1_Silent_p.Y219Y	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	278	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CCGAGTGCTCGTACTGAGTCT	0.572													G|||	7	0.00139776	0.0	0.0	5008	,	,		17840	0.0		0.003	False		,,,				2504	0.0041				Esophageal Squamous(108;290 1516 3584 23771 37333)	uc003ahy.3																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(832-834)taC>taT		Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	Vitamin E(DB00163)	G		2,4404	4.2+/-10.8	0,2,2201	113.0	94.0	101.0		834	-11.3	0.4	22	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SEC14L3	NM_174975.4		0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308		278/401	30857619	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30857619G>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.834C>T	22.37:g.30857619G>A						SEC14L3_uc003ahz.3_Silent_p.Y201Y|SEC14L3_uc003aia.3_Silent_p.Y219Y|SEC14L3_uc003aib.3_Silent_p.Y219Y	p.Y278Y	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN			9	923	-			278			GOLD.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000215812.4	37	c.834C>T	CCDS13877.1																																																																																				0.572	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975	
SCN5A	6331	broad.mit.edu	37	3	38622444	38622444	+	Missense_Mutation	SNP	G	G	A	rs199473187		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:38622444G>A	ENST00000333535.4	-	17	3355	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	SCN5A_ENST00000443581.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000413689.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1069M			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1069			T -> M (in LQT3). {ECO:0000269|PubMed:15840476}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCTCCTCCGTGCCCAGGCT	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17231	0.0		0.0	False		,,,				2504	0.0					uc021wvo.1																			0		p.G1068V(2)|p.T1069T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM055518	SCN5A	M		c.(3205-3207)aCg>aTg		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						38.0	39.0	39.0					3																	38622444		2153	4254	6407	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622444G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3206C>T	3.37:g.38622444G>A	ENSP00000328968:p.Thr1069Met					SCN5A_uc021wvk.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvl.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvm.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvn.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvp.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvq.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvr.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvs.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvt.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvu.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvv.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvj.1_Missense_Mutation_p.T935M|SCN5A_uc021wvi.1_Missense_Mutation_p.T935M|SCN5A_uc021wvw.1_Missense_Mutation_p.T680M	p.T1069M	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	15	3258	-	Medulloblastoma(35;0.163)		1069					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3206C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125569	0.56721	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.12	5.12	0.69794	Sodium ion transport-associated (1);	0.438120	0.20347	N	0.094125	D	0.88005	0.6321	L	0.43923	1.385	0.26130	N	0.980427	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.998;0.999	D;D;P;D;D;P;P	0.67725	0.953;0.95;0.88;0.91;0.91;0.855;0.855	T	0.82204	-0.0573	10	0.56958	D	0.05	.	18.5908	0.91212	0.0:0.0:1.0:0.0	.	1069;1069;1069;1069;1069;1069;1069	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	M	1069	ENSP00000398962:T1069M;ENSP00000398266:T1069M;ENSP00000410257:T1069M;ENSP00000388797:T1069M;ENSP00000397915:T1069M;ENSP00000416634:T1069M;ENSP00000328968:T1069M;ENSP00000399524:T1069M;ENSP00000403355:T1069M;ENSP00000413996:T1069M	ENSP00000328968:T1069M	T	-	2	0	SCN5A	38597448	0.998000	0.40836	0.062000	0.19696	0.357000	0.29423	6.590000	0.74085	2.395000	0.81488	0.561000	0.74099	ACG		0.627	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
ABI3BP	25890	broad.mit.edu	37	3	100645260	100645260	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:100645260G>A	ENST00000284322.5	-	2	275	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	ABI3BP_ENST00000471714.1_Missense_Mutation_p.R56C|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R56C|ABI3BP_ENST00000532144.1_5'UTR	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	56					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGACTTGGACGCAAGAACTTC	0.448																																						uc003dun.3																			0		p.R56H(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(166-168)Cgt>Tgt		Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.							202.0	197.0	198.0					3																	100645260		1976	4148	6124	SO:0001583	missense	25890					extracellular space		g.chr3:100645260G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.166C>T	3.37:g.100645260G>A	ENSP00000284322:p.Arg56Cys					ABI3BP_uc003duo.2_Missense_Mutation_p.R49C|ABI3BP_uc003dup.4_Missense_Mutation_p.R49C	p.R56C	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			1	251	-			56					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.166C>T	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728064	0.89390	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063	T;T	0.28255	1.7;1.62	5.55	5.55	0.83447	.	0.059364	0.64402	D	0.000001	T	0.46249	0.1383	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.91;0.998;0.993	T	0.41088	-0.9528	10	0.59425	D	0.04	-8.7773	18.2894	0.90124	0.0:0.0:1.0:0.0	.	49;56;56	Q9H717;Q5JPC9;Q7Z7G0	.;.;TARSH_HUMAN	C	56	ENSP00000420524:R56C;ENSP00000284322:R56C	ENSP00000284322:R56C	R	-	1	0	ABI3BP	102127950	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.908000	0.87438	2.615000	0.88500	0.650000	0.86243	CGT		0.448	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
ZPLD1	131368	broad.mit.edu	37	3	102157373	102157373	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:102157373G>A	ENST00000491959.1	+	9	924	c.42G>A	c.(40-42)gtG>gtA	p.V14V	ZPLD1_ENST00000306176.1_Silent_p.V30V|ZPLD1_ENST00000466937.1_Silent_p.V14V			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	14						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAATTAGAGTGCTTCCGGGGT	0.433																																						uc003dvt.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(88-90)gtG>gtA		Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.							151.0	135.0	140.0					3																	102157373		2203	4300	6503	SO:0001819	synonymous_variant	131368					integral to membrane		g.chr3:102157373G>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.42G>A	3.37:g.102157373G>A						ZPLD1_uc003dvs.1_Silent_p.V14V|ZPLD1_uc011bhg.1_Silent_p.V14V	p.V30V	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			1	190	+			14					Q49AS1|Q8WU36	Silent	SNP	ENST00000491959.1	37	c.90G>A																																																																																					0.433	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056	
CCDC37	348807	broad.mit.edu	37	3	126153142	126153142	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:126153142G>A	ENST00000352312.1	+	15	1645	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	CCDC37_ENST00000505024.1_Missense_Mutation_p.E517K|CCDC37_ENST00000393425.1_Missense_Mutation_p.E517K|CCDC37_ENST00000506204.1_3'UTR	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	516										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCAGCTGGATGAGCTGCTAGA	0.622																																						uc010hsg.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(1549-1551)Gag>Aag		Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.							69.0	64.0	66.0					3																	126153142		2203	4300	6503	SO:0001583	missense	348807							g.chr3:126153142G>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1546G>A	3.37:g.126153142G>A	ENSP00000344749:p.Glu516Lys					CCDC37_uc003eiu.1_Missense_Mutation_p.E516K	p.E517K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	13	1608	+			516					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.1549G>A	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319167	0.81469	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.38887	1.13;1.11;1.11	5.08	4.21	0.49690	.	0.236195	0.42294	D	0.000721	T	0.63954	0.2555	M	0.84326	2.69	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.952	T	0.65907	-0.6054	10	0.45353	T	0.12	-23.2871	11.3029	0.49318	0.0896:0.0:0.9104:0.0	.	517;516	Q494V2-2;Q494V2	.;CCD37_HUMAN	K	516;517;517	ENSP00000344749:E516K;ENSP00000377076:E517K;ENSP00000423046:E517K	ENSP00000344749:E516K	E	+	1	0	CCDC37	127635832	1.000000	0.71417	0.812000	0.32479	0.874000	0.50279	4.458000	0.60095	1.136000	0.42199	-0.229000	0.12294	GAG		0.622	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	
B3GALNT1	8706	broad.mit.edu	37	3	160804500	160804500	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:160804500G>C	ENST00000392781.2	-	8	790	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	B3GALNT1_ENST00000392780.1_Missense_Mutation_p.L15V|B3GALNT1_ENST00000417187.1_Missense_Mutation_p.L15V|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.L15V|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.L15V|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.L15V|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.L15V	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	15					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AGGGATCTCAGTGACATCCTA	0.527																																						uc003fdv.3																			0				breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(43-45)Ctg>Gtg		Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.							45.0	41.0	42.0					3																	160804500		2203	4300	6503	SO:0001583	missense	8706				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr3:160804500G>C	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.43C>G	3.37:g.160804500G>C	ENSP00000376532:p.Leu15Val					B3GALNT1_uc003fdw.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdx.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdy.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdz.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fea.3_Missense_Mutation_p.L15V|B3GALNT1_uc011bpa.2_Missense_Mutation_p.L15V|B3GALNT1_uc021xgw.1_Missense_Mutation_p.L15V	p.L15V	NM_033169	NP_149359	O75752	B3GL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		4	462	-			15					D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	c.43C>G	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982493	0.34942	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000417187;ENST00000488170;ENST00000468268;ENST00000492353;ENST00000473142;ENST00000498216;ENST00000484127;ENST00000460353;ENST00000494173	T;T;T;T;T;T;T	0.48201	1.09;1.09;1.09;1.09;1.09;1.09;0.82	5.74	4.85	0.62838	.	0.257041	0.27280	N	0.020095	T	0.20210	0.0486	N	0.02539	-0.55	0.32111	N	0.589326	B;B	0.19706	0.038;0.002	B;B	0.20384	0.029;0.004	T	0.17077	-1.0381	10	0.21540	T	0.41	.	7.9551	0.30038	0.0:0.2102:0.6254:0.1643	.	15;15	E7EVF0;O75752	.;B3GL1_HUMAN	V	15;15;15;15;15;15;15;15;15;15;15;15;135;15	ENSP00000323479:L15V;ENSP00000376530:L15V;ENSP00000376531:L15V;ENSP00000376532:L15V;ENSP00000418226:L15V;ENSP00000420163:L15V;ENSP00000419476:L15V	ENSP00000323479:L15V	L	-	1	2	B3GALNT1	162287194	0.997000	0.39634	1.000000	0.80357	0.830000	0.47004	1.061000	0.30542	2.711000	0.92665	0.561000	0.74099	CTG		0.527	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167	
ZNF391	346157	broad.mit.edu	37	6	27368167	27368167	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:27368167G>A	ENST00000244576.4	+	3	563	c.18G>A	c.(16-18)ggG>ggA	p.G6G		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	6					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)			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GCCTCAGAGGGAATACTGCTC	0.423																																						uc003njf.1																			0				endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(16-18)ggG>ggA		Homo sapiens zinc finger protein 391 (ZNF391), mRNA.							84.0	77.0	79.0					6																	27368167		1842	4105	5947	SO:0001819	synonymous_variant	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27368167G>A	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.18G>A	6.37:g.27368167G>A						ZNF391_uc021ypw.1_Silent_p.G6G	p.G6G	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN			2	536	+			6					B4DH77	Silent	SNP	ENST00000244576.4	37	c.18G>A	CCDS43429.1																																																																																				0.423	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781	
CCHCR1	54535	broad.mit.edu	37	6	31124628	31124628	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:31124628A>G	ENST00000376266.5	-	3	232	c.110T>C	c.(109-111)cTg>cCg	p.L37P	CCHCR1_ENST00000396263.2_Missense_Mutation_p.L37P|CCHCR1_ENST00000451521.2_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.L126P|CCHCR1_ENST00000480060.1_Intron|TCF19_ENST00000376255.4_5'Flank|TCF19_ENST00000376257.3_5'Flank	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	37					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GGGTTGGACCAGGGGAATGTC	0.577																																						uc003nsp.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(376-378)cTg>cCg		Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.							77.0	93.0	88.0					6																	31124628		1511	2709	4220	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31124628A>G	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.110T>C	6.37:g.31124628A>G	ENSP00000365442:p.Leu37Pro					CCHCR1_uc011dne.2_Missense_Mutation_p.L37P|CCHCR1_uc003nsq.4_Intron|CCHCR1_uc003nsr.4_Missense_Mutation_p.L37P|CCHCR1_uc010jsk.1_Missense_Mutation_p.L37P|TCF19_uc003nss.3_5'Flank|TCF19_uc003nst.3_5'Flank	p.L126P	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN			2	566	-			37					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.377T>C	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.764721	0.31228	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000448162;ENST00000513222;ENST00000515274;ENST00000507751;ENST00000455279;ENST00000412245;ENST00000503934;ENST00000426967;ENST00000502557;ENST00000507829;ENST00000428174;ENST00000507226;ENST00000507892	T;T;T;T;T;T;T;T;T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33	5.4	-1.93	0.07594	.	0.786356	0.10470	N	0.670958	T	0.02230	0.0069	M	0.70595	2.14	0.09310	N	1	B;B;B;B	0.21688	0.059;0.059;0.012;0.015	B;B;B;B	0.19391	0.025;0.025;0.018;0.015	T	0.44772	-0.9306	10	0.87932	D	0	-0.2167	0.9652	0.01404	0.4366:0.1543:0.2598:0.1492	.	37;37;37;126	B4DIA2;A8K081;Q8TD31;Q8TD31-2	.;.;CCHCR_HUMAN;.	P	126;37;37;37;37;11;37;37;37;63;37;135;37;37;63;37;37	ENSP00000379566:L126P;ENSP00000365442:L37P;ENSP00000379561:L37P;ENSP00000390027:L37P;ENSP00000425682:L11P;ENSP00000420941:L37P;ENSP00000398715:L37P;ENSP00000425595:L37P;ENSP00000402432:L135P;ENSP00000425377:L37P;ENSP00000420911:L37P;ENSP00000389303:L63P;ENSP00000424335:L37P	ENSP00000365442:L37P	L	-	2	0	CCHCR1	31232607	0.000000	0.05858	0.008000	0.14137	0.917000	0.54804	-0.319000	0.08039	-0.213000	0.10094	-0.463000	0.05309	CTG		0.577	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052	
TREML2	79865	broad.mit.edu	37	6	41166083	41166083	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:41166083T>C	ENST00000483722.1	-	2	325	c.140A>G	c.(139-141)aAa>aGa	p.K47R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	47	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACGCGGTTTTTGTAGCCCTT	0.537																																						uc010jxm.1																			0		p.W47L(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(139-141)aAa>aGa		Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.							160.0	170.0	167.0					6																	41166083		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41166083T>C	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.140A>G	6.37:g.41166083T>C	ENSP00000418767:p.Lys47Arg						p.K47R	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			1	319	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		47			Ig-like V-type.		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.140A>G	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	0.160	-1.082582	0.01888	.	.	ENSG00000112195	ENST00000483722	T	0.65549	-0.16	4.75	-2.62	0.06152	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.465994	0.17435	N	0.174339	T	0.13628	0.0330	N	0.17379	0.485	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.19095	-1.0316	10	0.17369	T	0.5	-8.0395	1.2039	0.01890	0.1571:0.3464:0.1603:0.3362	.	47	Q5T2D2	TRML2_HUMAN	R	47	ENSP00000418767:K47R	ENSP00000418767:K47R	K	-	2	0	TREML2	41274061	0.003000	0.15002	0.126000	0.21872	0.096000	0.18686	-0.102000	0.10956	-0.055000	0.13244	-0.400000	0.06385	AAA		0.537	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807	
PTCHD4	442213	broad.mit.edu	37	6	47846894	47846894	+	Silent	SNP	G	G	A	rs147985171	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:47846894G>A	ENST00000339488.4	-	3	1719	c.1686C>T	c.(1684-1686)aaC>aaT	p.N562N		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	562						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TGGCACTGACGTTGCTGACTT	0.443													G|||	8	0.00159744	0.0023	0.0	5008	,	,		20683	0.0		0.0	False		,,,				2504	0.0051					uc011dwm.2																			0											c.(1684-1686)aaC>aaT		Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.		G		11,4395	17.9+/-39.9	0,11,2192	59.0	53.0	55.0		1686	2.4	1.0	6	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C6orf138	NM_001013732.3		0,12,6491	AA,AG,GG		0.0116,0.2497,0.0923		562/847	47846894	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846894G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1686C>T	6.37:g.47846894G>A						PTCHD4_uc011dwn.2_Silent_p.N309N	p.N562N	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			2	1720	-			562					B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.1686C>T	CCDS34473.2																																																																																				0.443	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732	
SGK1	6446	broad.mit.edu	37	6	134493394	134493394	+	Silent	SNP	G	G	A	rs201259463		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:134493394G>A	ENST00000237305.7	-	8	811	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SGK1_ENST00000367858.5_Silent_p.F336F|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000367857.5_Silent_p.F231F|SGK1_ENST00000528577.1_Silent_p.F269F|SGK1_ENST00000475719.2_Silent_p.F197F|SGK1_ENST00000413996.3_Silent_p.F255F	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCAGAGTCCGAAGTCAGTAA	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		20245	0.0		0.001	False		,,,				2504	0.0					uc003qen.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(721-723)ttC>ttT		Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.		G	,,,	0,4406		0,0,2203	245.0	218.0	227.0		1008,807,765,723	-0.9	1.0	6		227	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SGK1	NM_001143676.1,NM_001143677.1,NM_001143678.1,NM_005627.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	336/527,269/460,255/446,241/432	134493394	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134493394G>A	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.723C>T	6.37:g.134493394G>A						SGK1_uc003qeo.4_Silent_p.F336F|SGK1_uc011ect.2_Silent_p.F231F|SGK1_uc011ecu.2_Silent_p.F197F|SGK1_uc011ecv.2_Silent_p.F255F|SGK1_uc011ecw.2_Silent_p.F269F	p.F241F	NM_005627	NP_005618	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	7	812	-	Colorectal(23;0.221)		241			Protein kinase.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.723C>T	CCDS5170.1																																																																																				0.448	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		
KBTBD2	25948	broad.mit.edu	37	7	32909459	32909459	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:32909459G>T	ENST00000304056.4	-	4	2069	c.1370C>A	c.(1369-1371)aCt>aAt	p.T457N	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	457										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GGACCTACTAGTCTGTCTCAT	0.438																																						uc003tdb.2																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(1369-1371)aCt>aAt		Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.							69.0	67.0	68.0					7																	32909459		2203	4299	6502	SO:0001583	missense	25948							g.chr7:32909459G>T	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1370C>A	7.37:g.32909459G>T	ENSP00000302586:p.Thr457Asn					AVL9_uc011kai.2_Intron	p.T457N	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		3	2029	-			457					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1370C>A	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.927000	0.52759	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.68025	-0.3	5.73	4.85	0.62838	Kelch-type beta propeller (1);	0.089673	0.85682	D	0.000000	T	0.70675	0.3251	N	0.24115	0.695	0.58432	D	0.999998	D	0.71674	0.998	D	0.73708	0.981	T	0.73600	-0.3931	10	0.52906	T	0.07	.	14.5727	0.68224	0.0701:0.0:0.9299:0.0	.	457	Q8IY47	KBTB2_HUMAN	N	457;259	ENSP00000302586:T457N	ENSP00000302586:T457N	T	-	2	0	KBTBD2	32875984	1.000000	0.71417	0.912000	0.35992	0.987000	0.75469	9.869000	0.99810	1.433000	0.47394	0.491000	0.48974	ACT		0.438	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224	
IKZF1	10320	broad.mit.edu	37	7	50467932	50467932	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:50467932C>T	ENST00000331340.3	+	8	1322	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	IKZF1_ENST00000343574.5_Silent_p.S302S|IKZF1_ENST00000357364.4_Silent_p.S302S|IKZF1_ENST00000349824.4_Silent_p.S246S|IKZF1_ENST00000346667.4_Silent_p.S159S|IKZF1_ENST00000359197.5_Silent_p.S347S|IKZF1_ENST00000438033.1_Silent_p.S302S|IKZF1_ENST00000439701.1_Silent_p.S347S|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	389					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCGAGGCGTCCCCGAGCAACA	0.672			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.4				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1165-1167)tcC>tcT		Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.							20.0	27.0	24.0					7																	50467932		2130	4226	6356	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467932C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1167C>T	7.37:g.50467932C>T						IKZF1_uc022acq.1_Silent_p.S246S|IKZF1_uc003tpa.4_Silent_p.S154S|IKZF1_uc022acr.1_Silent_p.S164S|IKZF1_uc022acs.1_Silent_p.S119S|IKZF1_uc022act.1_Silent_p.S292S|IKZF1_uc022acu.1_Silent_p.S302S|IKZF1_uc003tox.4_Silent_p.S347S|IKZF1_uc022acv.1_Silent_p.S250S|IKZF1_uc022acw.1_Silent_p.S260S|IKZF1_uc022acx.1_Silent_p.S302S|IKZF1_uc022acy.1_Silent_p.S196S|IKZF1_uc022acz.1_Silent_p.S206S|IKZF1_uc011kck.2_Silent_p.S302S|IKZF1_uc003toy.4_Silent_p.S347S|IKZF1_uc003toz.4_Silent_p.S359S|IKZF1_uc010kyx.3_Silent_p.S129S	p.S389S	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			7	1322	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	389					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.1167C>T																																																																																					0.672	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060	
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000344576.2_Missense_Mutation_p.A289T|EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000454757.2_Missense_Mutation_p.A236T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T|EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		3	Substitution - Missense(3)	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)	central_nervous_system(3)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)Gcc>Acc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						179.0	143.0	155.0					7																	55221821		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.865G>A	7.37:g.55221821G>A	ENSP00000275493:p.Ala289Thr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289T	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.865G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802519	0.96960	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.992;1.0;1.0;0.999	P;D;D;D;D	0.74023	0.766;0.974;0.976;0.982;0.912	D	0.83919	0.0300	10	0.87932	D	0	.	18.9232	0.92534	0.0:0.0:1.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	T	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244T;ENSP00000342376:A289T;ENSP00000345973:A289T;ENSP00000413843:A289T;ENSP00000275493:A289T;ENSP00000410031:A289T;ENSP00000395243:A236T	ENSP00000275493:A289T	A	+	1	0	EGFR	55189315	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.968000	0.87980	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
SEMA3C	10512	broad.mit.edu	37	7	80387708	80387708	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:80387708G>A	ENST00000265361.3	-	15	2143	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	SEMA3C_ENST00000419255.2_Missense_Mutation_p.R528W|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R546W	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	528					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TAAGGGTCCCGCGCCAGGCAG	0.527																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1636-1638)Cgg>Tgg		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							109.0	104.0	106.0					7																	80387708		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80387708G>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1582C>T	7.37:g.80387708G>A	ENSP00000265361:p.Arg528Trp					SEMA3C_uc003uhj.3_Missense_Mutation_p.R528W	p.R546W	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			14	1715	-			528					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1636C>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708266	0.68615	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.28069	1.63;1.63;1.63	5.47	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76389	-0.2977	10	0.87932	D	0	.	13.4867	0.61371	0.0:0.0:0.4402:0.5598	.	546;528	F5H1Z7;Q99985	.;SEM3C_HUMAN	W	528;528;546	ENSP00000265361:R528W;ENSP00000411193:R528W;ENSP00000445649:R546W	ENSP00000265361:R528W	R	-	1	2	SEMA3C	80225644	0.932000	0.31603	0.743000	0.31040	0.945000	0.59286	1.358000	0.34102	0.438000	0.26450	0.467000	0.42956	CGG		0.527	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	
NPTX2	4885	broad.mit.edu	37	7	98257875	98257875	+	Silent	SNP	C	C	T	rs199857878		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:98257875C>T	ENST00000265634.3	+	5	1395	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	410	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.V410V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACAATAACGTCGATGTGTTCG	0.582																																						uc003upl.2																			1	Substitution - coding silent(1)	p.V410V(2)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1228-1230)gtC>gtT		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.		C		0,4406		0,0,2203	75.0	65.0	68.0		1230	-7.4	0.7	7		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPTX2	NM_002523.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		410/432	98257875	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98257875C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1230C>T	7.37:g.98257875C>T							p.V410V	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1407	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		410			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.1230C>T	CCDS5657.1																																																																																				0.582	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
NYAP1	222950	broad.mit.edu	37	7	100085924	100085924	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:100085924C>A	ENST00000300179.2	+	4	739	c.580C>A	c.(580-582)Cag>Aag	p.Q194K	NYAP1_ENST00000423930.1_Missense_Mutation_p.Q194K|NYAP1_ENST00000454988.1_Missense_Mutation_p.Q137K	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	194					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCTGCCTCTTCAGCGCCTCAC	0.637																																						uc003uvd.1																			0											c.(580-582)Cag>Aag		Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.							46.0	55.0	52.0					7																	100085924		2203	4300	6503	SO:0001583	missense	222950							g.chr7:100085924C>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.580C>A	7.37:g.100085924C>A	ENSP00000300179:p.Gln194Lys					NYAP1_uc003uve.1_5'UTR	p.Q194K	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			3	739	+			194					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.580C>A	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039441	0.35989	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.42900	0.96;0.96;0.96	5.03	5.03	0.67393	.	0.136277	0.34025	N	0.004333	T	0.28167	0.0695	N	0.14661	0.345	0.48571	D	0.999677	B	0.26935	0.164	B	0.28849	0.095	T	0.08432	-1.0722	10	0.18276	T	0.48	-8.4432	15.8456	0.78887	0.0:1.0:0.0:0.0	.	194	Q6ZVC0	CG051_HUMAN	K	194;194;137	ENSP00000300179:Q194K;ENSP00000411861:Q194K;ENSP00000394424:Q137K	ENSP00000300179:Q194K	Q	+	1	0	C7orf51	99923860	0.961000	0.32948	0.999000	0.59377	0.979000	0.70002	3.496000	0.53288	2.327000	0.79052	0.407000	0.27541	CAG		0.637	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564	
MUC17	140453	broad.mit.edu	37	7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	rs141608296		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:100678887C>T	ENST00000306151.4	+	3	4254	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1397	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACCACTCCGTTAACAAGT	0.507													N|||	1	0.000199681	0.0008	0.0	5008	,	,		25227	0.0		0.0	False		,,,				2504	0.0					uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4189-4191)cCg>cTg		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							264.0	270.0	268.0					7																	100678887		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678887C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4190C>T	7.37:g.100678887C>T	ENSP00000302716:p.Pro1397Leu					MUC17_uc010lho.1_Non-coding_Transcript	p.P1397L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	4243	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1397			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4190C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	3.380	-0.126650	0.06795	.	.	ENSG00000169876	ENST00000306151	T	0.03242	4.0	0.73	0.73	0.18271	.	.	.	.	.	T	0.01730	0.0055	L	0.27053	0.805	0.09310	N	1	P	0.47841	0.901	B	0.26202	0.067	T	0.48163	-0.9059	9	0.19590	T	0.45	.	4.9076	0.13806	0.0:1.0:0.0:0.0	.	1397	Q685J3	MUC17_HUMAN	L	1397	ENSP00000302716:P1397L	ENSP00000302716:P1397L	P	+	2	0	MUC17	100465607	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	1.355000	0.34068	0.720000	0.32209	0.134000	0.15878	CCG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
FIS1	51024	broad.mit.edu	37	7	100887381	100887381	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:100887381A>T	ENST00000223136.4	-	2	165	c.85T>A	c.(85-87)Tcg>Acg	p.S29T	FIS1_ENST00000474120.1_Intron|FIS1_ENST00000482199.1_5'Flank|FIS1_ENST00000442303.1_Intron	NM_016068.2	NP_057152.2	Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	29					calcium-mediated signaling using intracellular calcium source (GO:0035584)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|mitochondrion morphogenesis (GO:0070584)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|peroxisome fission (GO:0016559)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|release of cytochrome c from mitochondria (GO:0001836)	integral component of mitochondrial outer membrane (GO:0031307)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|protein complex (GO:0043234)	receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TTGGACACCGAGCCTGCTGCC	0.512											OREG0018218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003uyj.4																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(85-87)Tcg>Acg		Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA.							83.0	90.0	87.0					7																	100887381		2057	4194	6251	SO:0001583	missense	51024				apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding	g.chr7:100887381A>T	AF151893	CCDS43626.1	7q22.1	2012-10-01	2006-04-04	2006-01-24	ENSG00000214253	ENSG00000214253			21689	protein-coding gene	gene with protein product	"""CGI-135 protein"""	609003	"""tetratricopeptide repeat domain 11"", ""fission 1 (mitochondrial outer membrane) homolog (yeast)"""	TTC11		14996942, 16010987	Standard	NM_016068		Approved	CGI-135, H_NH0132A01.6, Fis1	uc003uyj.4	Q9Y3D6	OTTHUMG00000157106	ENST00000223136.4:c.85T>A	7.37:g.100887381A>T	ENSP00000223136:p.Ser29Thr		OREG0018218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1354	FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Intron	p.S29T	NM_016068	NP_057152	Q9Y3D6	FIS1_HUMAN			1	171	-	Lung NSC(181;0.168)|all_lung(186;0.215)		29					Q9BTP3	Missense_Mutation	SNP	ENST00000223136.4	37	c.85T>A	CCDS43626.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.504894	0.44558	.	.	ENSG00000214253	ENST00000223136	.	.	.	5.93	2.16	0.27623	Tetratricopeptide-like helical (1);	0.220326	0.30011	U	0.010624	T	0.31796	0.0808	N	0.21240	0.645	0.38055	D	0.935905	B	0.10296	0.003	B	0.10450	0.005	T	0.10291	-1.0636	9	0.13470	T	0.59	.	7.4343	0.27145	0.5992:0.3267:0.0741:0.0	.	29	Q9Y3D6	FIS1_HUMAN	T	29	.	ENSP00000223136:S29T	S	-	1	0	FIS1	100674101	0.927000	0.31430	0.974000	0.42286	0.998000	0.95712	0.090000	0.15025	0.104000	0.17725	0.459000	0.35465	TCG		0.512	FIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347449.1	NM_016068	
DUS4L	11062	broad.mit.edu	37	7	107214222	107214222	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:107214222T>G	ENST00000265720.3	+	5	674	c.312T>G	c.(310-312)tgT>tgG	p.C104W	DUS4L_ENST00000402620.1_Intron	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	104							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						GTATAGTCTGTCCTTATGCGA	0.383																																						uc003veh.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(310-312)tgT>tgG		Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA.							243.0	220.0	227.0					7																	107214222		2203	4300	6503	SO:0001583	missense	11062				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr7:107214222T>G	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"""protein similar to E.coli yhdg and R. capsulatus nifR3"""						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.312T>G	7.37:g.107214222T>G	ENSP00000265720:p.Cys104Trp					DUS4L_uc011klw.2_Intron|DUS4L_uc011klx.2_5'UTR|DUS4L_uc022ajw.1_Intron|DUS4L_uc010ljl.3_5'Flank	p.C104W	NM_181581	NP_853559	O95620	DUS4L_HUMAN			4	645	+			104					B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	37	c.312T>G	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.456543	0.43634	.	.	ENSG00000105865	ENST00000265720	T	0.29142	1.58	6.11	-0.466	0.12153	Aldolase-type TIM barrel (1);	0.199019	0.53938	D	0.000052	T	0.18341	0.0440	L	0.39898	1.24	0.80722	D	1	P	0.38370	0.628	B	0.33799	0.17	T	0.03008	-1.1083	10	0.40728	T	0.16	.	6.4383	0.21835	0.0:0.2536:0.1178:0.6285	.	104	O95620	DUS4L_HUMAN	W	104	ENSP00000265720:C104W	ENSP00000265720:C104W	C	+	3	2	DUS4L	107001458	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	1.246000	0.32803	-0.070000	0.12908	0.533000	0.62120	TGT		0.383	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581	
LOC407835	407835	broad.mit.edu	37	7	128766784	128766784	+	RNA	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:128766784C>T	ENST00000471777.1	+	0	0																											ACGATGACTTCGAAAGGACCT	0.587																																						uc003voo.3																			0											c.(211-213)ttC>ttT		Homo sapiens mitogen-activated protein kinase kinase 2 pseudogene (LOC407835), non-coding RNA.																																						407835							g.chr7:128766784C>T																													7.37:g.128766784C>T							p.F71F							0	460	+									Silent	SNP	ENST00000471777.1	37	c.213C>T																																																																																					0.587	RP11-286H14.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350981.1		
RHOBTB2	23221	broad.mit.edu	37	8	22864290	22864290	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:22864290G>A	ENST00000251822.6	+	5	1069	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	RHOBTB2_ENST00000519685.1_Missense_Mutation_p.A200T|RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.A185T	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	178	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCGGGAGGTGGCCAAGGAGCT	0.577																																						uc003xcp.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(598-600)Gcc>Acc		Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.							74.0	70.0	72.0					8																	22864290		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22864290G>A	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.532G>A	8.37:g.22864290G>A	ENSP00000251822:p.Ala178Thr					RHOBTB2_uc011kzp.1_Missense_Mutation_p.A185T|RHOBTB2_uc003xcq.2_Missense_Mutation_p.A178T|BC043400_uc003xcr.3_Non-coding_Transcript	p.A200T	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	6	881	+		Prostate(55;0.0513)|Breast(100;0.214)	178			Rho-like.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.598G>A	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725522	0.89298	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	D;D;D	0.82167	-1.58;-1.58;-1.58	5.28	5.28	0.74379	.	0.101711	0.64402	D	0.000002	D	0.92596	0.7648	M	0.89534	3.04	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.71414	0.973;0.973;0.973	D	0.93996	0.7271	10	0.87932	D	0	.	17.4639	0.87627	0.0:0.0:1.0:0.0	.	185;178;200	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	T	200;185;178	ENSP00000427926:A200T;ENSP00000429141:A185T;ENSP00000251822:A178T	ENSP00000251822:A178T	A	+	1	0	RHOBTB2	22920235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.856000	0.99531	2.449000	0.82847	0.563000	0.77884	GCC		0.577	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2		
TEX15	56154	broad.mit.edu	37	8	30699744	30699744	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:30699744T>C	ENST00000256246.2	-	1	6864	c.6790A>G	c.(6790-6792)Aag>Gag	p.K2264E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2264					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTAAAATCTTCCTTCTGTTA	0.313																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(6790-6792)Aag>Gag		Homo sapiens testis expressed 15 (TEX15), mRNA.							68.0	65.0	66.0					8																	30699744		2203	4299	6502	SO:0001583	missense	56154							g.chr8:30699744T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6790A>G	8.37:g.30699744T>C	ENSP00000256246:p.Lys2264Glu						p.K2264E	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	0	6790	-			2264						Missense_Mutation	SNP	ENST00000256246.2	37	c.6790A>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	3.713	-0.059093	0.07317	.	.	ENSG00000133863	ENST00000256246	T	0.12147	2.71	5.63	1.96	0.26148	.	0.323442	0.25994	N	0.026984	T	0.12860	0.0312	L	0.54323	1.7	0.09310	N	1	B	0.32653	0.379	B	0.30105	0.111	T	0.13124	-1.0521	10	0.87932	D	0	.	8.9253	0.35637	0.0:0.2128:0.0:0.7872	.	2264	Q9BXT5	TEX15_HUMAN	E	2264	ENSP00000256246:K2264E	ENSP00000256246:K2264E	K	-	1	0	TEX15	30819286	0.904000	0.30761	0.015000	0.15790	0.017000	0.09413	3.500000	0.53318	0.099000	0.17552	0.460000	0.39030	AAG		0.313	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TMEM67	91147	broad.mit.edu	37	8	94767177	94767178	+	Frame_Shift_Ins	INS	-	-	G	rs368971992		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:94767177_94767178insG	ENST00000453321.3	+	1	93_94	c.35_36insG	c.(34-39)gcggttfs	p.V13fs	TMEM67_ENST00000409623.3_Intron	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	13					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GTGGCAATGGCGGTTTGGTCCC	0.653																																						uc011lgk.2																			0		p.V12V(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(34-36)gcgfs		Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94767177_94767178insG	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.37dupG	8.37:g.94767179_94767179dupG	ENSP00000389998:p.Val13fs					TMEM67_uc010mau.3_Frame_Shift_Ins_p.A12fs|TMEM67_uc010mav.3_Frame_Shift_Ins_p.A12fs|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Frame_Shift_Ins_p.A12fs|TMEM67_uc003yga.4_Intron	p.A12fs	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		0	106_107	+	Breast(36;4.14e-07)		12					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Frame_Shift_Ins	INS	ENST00000453321.3	37	c.35_36insG	CCDS6258.2																																																																																				0.653	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704	
PLEC	5339	broad.mit.edu	37	8	144993481	144993481	+	Missense_Mutation	SNP	G	G	A	rs371006283		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:144993481G>A	ENST00000322810.4	-	32	11088	c.10919C>T	c.(10918-10920)gCg>gTg	p.A3640V	PLEC_ENST00000436759.2_Missense_Mutation_p.A3530V|PLEC_ENST00000345136.3_Missense_Mutation_p.A3503V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3526V|PLEC_ENST00000356346.3_Missense_Mutation_p.A3489V|PLEC_ENST00000398774.2_Missense_Mutation_p.A3471V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3481V|PLEC_ENST00000357649.2_Missense_Mutation_p.A3507V|PLEC_ENST00000354589.3_Missense_Mutation_p.A3503V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3640	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGGGGTCCGCCAGGACGCG	0.662																																						uc003zaf.1																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(10918-10920)gCg>gTg		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4139		0,1,2069	72.0	80.0	77.0		10589,10466,10442,10919,10412,10508,10520,10508	2.1	0.0	8		77	0,8374		0,0,4187	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	64,64,64,64,64,64,64,64	0,1,6256	AA,AG,GG		0.0,0.0242,0.0080	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	3530/4575,3489/4534,3481/4526,3640/4685,3471/4516,3503/4548,3507/4552,3503/4548	144993481	1,12513	2070	4187	6257	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144993481G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10919C>T	8.37:g.144993481G>A	ENSP00000323856:p.Ala3640Val					PLEC_uc003zab.1_Missense_Mutation_p.A3503V|PLEC_uc003zac.1_Missense_Mutation_p.A3507V|PLEC_uc003zad.2_Missense_Mutation_p.A3503V|PLEC_uc003zae.1_Missense_Mutation_p.A3471V|PLEC_uc003zag.1_Missense_Mutation_p.A3481V|PLEC_uc003zah.2_Missense_Mutation_p.A3489V|PLEC_uc003zaj.2_Missense_Mutation_p.A3530V	p.A3640V	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	11089	-			3640			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10919C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	1.608	-0.524822	0.04141	2.42E-4	0.0	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	5.03	2.12	0.27331	.	1.149570	0.06566	U	0.747582	T	0.59838	0.2223	L	0.38175	1.15	0.09310	N	1	B;B;B;B;B;B;B;B	0.26975	0.052;0.052;0.052;0.064;0.052;0.052;0.165;0.052	B;B;B;B;B;B;B;B	0.16289	0.009;0.009;0.009;0.015;0.009;0.009;0.009;0.009	T	0.46762	-0.9168	10	0.46703	T	0.11	.	8.3297	0.32178	0.0729:0.0:0.5093:0.4178	.	3530;3489;3481;3640;3471;3503;3507;3503	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	3503;3507;3503;3471;3640;3481;3489;3530;3526	ENSP00000344848:A3503V;ENSP00000350277:A3507V;ENSP00000346602:A3503V;ENSP00000381756:A3471V;ENSP00000323856:A3640V;ENSP00000347044:A3481V;ENSP00000348702:A3489V;ENSP00000388180:A3530V;ENSP00000434583:A3526V	ENSP00000323856:A3640V	A	-	2	0	PLEC	145065469	0.084000	0.21492	0.008000	0.14137	0.052000	0.14988	1.217000	0.32455	0.241000	0.21283	0.448000	0.29417	GCG		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
CDKN2A	1029	broad.mit.edu	37	9	21971124	21971125	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr9:21971124_21971125delGA	ENST00000304494.5	-	2	503_504	c.233_234delTC	c.(232-234)ctcfs	p.L78fs	CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.H93fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.H134fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L27fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.H93fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L78fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	78					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.L78fs*41(11)|p.L65fs*38(1)|p.0(1)|p.L78fs*67(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.E61_L94del(1)|p.H134fs*>40(1)|p.A68fs*3(1)|p.H134fs*41(1)|p.L78H(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGTCGGGTGAGAGTGGCGGG	0.723		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.3		17																	1380	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(17)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.0?(1315)|p.?(44)|p.L78fs*41(29)|p.L78fs*67(2)|p.E61_L94del(2)|p.T77fs*43(2)|p.L78H(2)|p.L65fs*38(1)|p.0(1)|p.L78fs*68(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.H134fs*>40(1)|p.A68fs*3(1)|p.T77S(1)|p.T77fs*69(1)|p.H134fs*41(1)	haematopoietic_and_lymphoid_tissue(284)|skin(174)|central_nervous_system(168)|lung(145)|urinary_tract(91)|bone(75)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(55)|pleura(51)|ovary(36)|pancreas(33)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(232-234)ctcfs		Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971124_21971125delGA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.233_234delTC	9.37:g.21971126_21971127delGA	ENSP00000307101:p.Leu78fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Del_p.L78fs|CDKN2A_uc003zpl.3_Frame_Shift_Del_p.S92fs	p.L78fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	539_540	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	78					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.233_234delTC	CCDS6510.1																																																																																				0.723	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	
MAGEB6	158809	broad.mit.edu	37	X	26212711	26212711	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chrX:26212711G>A	ENST00000379034.1	+	2	897	c.748G>A	c.(748-750)Gtt>Att	p.V250I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	250	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGCCTTTGGCGTTGAATTGAA	0.517																																						uc022buc.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(748-750)Gtt>Att		Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.							70.0	58.0	62.0					X																	26212711		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212711G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.748G>A	X.37:g.26212711G>A	ENSP00000368320:p.Val250Ile					MAGEB6_uc004dbr.3_Missense_Mutation_p.V250I	p.V250I	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			0	748	+			250			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.748G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806476	0.31961	.	.	ENSG00000176746	ENST00000379034	T	0.04454	3.62	3.1	-0.926	0.10455	.	0.196337	0.33496	U	0.004859	T	0.02688	0.0081	N	0.11364	0.135	0.09310	N	1	D	0.57257	0.979	P	0.50405	0.64	T	0.41106	-0.9527	10	0.15066	T	0.55	.	1.9659	0.03396	0.1849:0.2948:0.3903:0.13	.	250	Q8N7X4	MAGB6_HUMAN	I	250	ENSP00000368320:V250I	ENSP00000368320:V250I	V	+	1	0	MAGEB6	26122632	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.854000	0.01664	-0.380000	0.07894	-0.223000	0.12442	GTT		0.517	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523	
