#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_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
CNNM1	26507	broad.mit.edu	37	10	101120665	101120665	+	Silent	SNP	G	G	A	rs369793453		TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr10:101120665G>A	ENST00000356713.4	+	3	2080	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	CNNM1_ENST00000446890.1_Silent_p.S526S|CNNM1_ENST00000370534.4_Silent_p.S232S|CNNM1_ENST00000370528.3_Silent_p.S526S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	597					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.S232S(1)|p.S597S(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TTAAGCTTTCGGACACGGAGA	0.537																																					p.S597S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1791A	10						.	G		0,4406		0,0,2203	122.0	117.0	119.0		1791	-11.5	0.3	10		119	1,8599		0,1,4299	no	coding-synonymous	CNNM1	NM_020348.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		597/952	101120665	1,13005	2203	4300	6503	101110655	SO:0001819	synonymous_variant	26507	exon3			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1791G>A	10.37:g.101120665G>A		Somatic		Capture	Illumina HiSeq	Phase_I	101110655	NM_020348	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	37	CCDS7478.2																																																																																				0.537	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348	
SEPHS1	22929	broad.mit.edu	37	10	13361209	13361209	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr10:13361209C>T	ENST00000327347.5	-	9	1487	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	SEPHS1_ENST00000545675.1_3'UTR|SEPHS1_ENST00000378614.4_Missense_Mutation_p.R300Q|SEPHS1_ENST00000537130.1_Missense_Mutation_p.R304Q	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	371					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)	p.R371Q(2)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CTCGATGATCCGGGGTTTGTC	0.483																																					p.R300Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G899A	10						.						232.0	231.0	232.0					10																	13361209		2203	4300	6503	13401215	SO:0001583	missense	22929	exon8			BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.1112G>A	10.37:g.13361209C>T	ENSP00000367893:p.Arg371Gln	Somatic		Capture	Illumina HiSeq	Phase_I	13401215	NM_001195604	B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	ENST00000327347.5	37	CCDS7098.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222977	0.58668	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000537130	T;T;T	0.50813	0.88;0.73;0.89	5.23	5.23	0.72850	AIR synthase-related protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	L	0.51914	1.62	0.80722	D	1	B;B;B;B	0.28128	0.098;0.201;0.201;0.055	B;B;B;B	0.12837	0.003;0.008;0.008;0.003	T	0.43540	-0.9385	10	0.59425	D	0.04	-25.7142	19.197	0.93693	0.0:1.0:0.0:0.0	.	323;371;371;304	B4DLS1;P49903;D3DRS9;B4DWK0	.;SPS1_HUMAN;.;.	Q	371;300;300;304	ENSP00000367893:R371Q;ENSP00000367877:R300Q;ENSP00000442768:R304Q	ENSP00000367887:R300Q	R	-	2	0	SEPHS1	13401215	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.605000	0.88082	0.655000	0.94253	CGG		0.483	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247	
SLC18A3	6572	broad.mit.edu	37	10	50820044	50820044	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr10:50820044G>A	ENST00000374115.3	+	1	1698	c.1258G>A	c.(1258-1260)Gtc>Atc	p.V420I	CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	420					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.V420I(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTATGGCAGCGTCTACGCCAT	0.612																																					p.V420I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1258A	10						.						48.0	40.0	43.0					10																	50820044		2203	4300	6503	50490050	SO:0001583	missense	6572	exon1			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1258G>A	10.37:g.50820044G>A	ENSP00000363229:p.Val420Ile	Somatic		Capture	Illumina HiSeq	Phase_I	50490050	NM_003055	B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386082	0.61956	.	.	ENSG00000187714	ENST00000374115	D	0.81499	-1.5	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.070459	0.56097	U	0.000029	T	0.73590	0.3606	L	0.46670	1.46	0.58432	D	0.999991	P	0.42584	0.784	B	0.34242	0.178	T	0.73452	-0.3978	10	0.25106	T	0.35	0.7378	18.5339	0.91002	0.0:0.0:1.0:0.0	.	420	Q16572	VACHT_HUMAN	I	420	ENSP00000363229:V420I	ENSP00000363229:V420I	V	+	1	0	SLC18A3	50490050	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.869000	0.99810	2.380000	0.81148	0.561000	0.74099	GTC		0.612	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055	
CDH23	64072	broad.mit.edu	37	10	73453967	73453967	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr10:73453967G>A	ENST00000224721.6	+	20	2260	c.2255G>A	c.(2254-2256)cGc>cAc	p.R752H	CDH23_ENST00000299366.7_Missense_Mutation_p.R792H	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	747	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.R752H(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTCATCGTTCGCGCAGTGGAC	0.632																																					p.R747H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2240A	10						.						68.0	84.0	79.0					10																	73453967		2082	4197	6279	73123973	SO:0001583	missense	64072	exon20			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2255G>A	10.37:g.73453967G>A	ENSP00000224721:p.Arg752His	Somatic		Capture	Illumina HiSeq	Phase_I	73123973	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	24.6	4.553688	0.86231	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.069128	0.56097	N	0.000032	T	0.75428	0.3848	L	0.54323	1.7	0.80722	D	1	P;D;D	0.89917	0.95;1.0;0.991	P;D;P	0.87578	0.59;0.998;0.829	T	0.69018	-0.5256	9	0.21014	T	0.42	.	19.5163	0.95167	0.0:0.0:1.0:0.0	.	747;750;747	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	H	752;747;747;750;750;264	.	ENSP00000224721:R752H	R	+	2	0	CDH23	73123973	1.000000	0.71417	0.282000	0.24776	0.255000	0.26057	9.827000	0.99397	2.621000	0.88768	0.643000	0.83706	CGC		0.632	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
GHITM	27069	broad.mit.edu	37	10	85912074	85912074	+	Missense_Mutation	SNP	G	G	A	rs111408234		TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr10:85912074G>A	ENST00000372134.3	+	9	1201	c.1008G>A	c.(1006-1008)atG>atA	p.M336I		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	336					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.M336I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TTGCAACTATGCTGGCAACTG	0.353																																					p.M336I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1008A	10						.						57.0	55.0	56.0					10																	85912074		1836	4083	5919	85902054	SO:0001583	missense	27069	exon9			AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.1008G>A	10.37:g.85912074G>A	ENSP00000361207:p.Met336Ile	Somatic		Capture	Illumina HiSeq	Phase_I	85902054	NM_014394	A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	ENST00000372134.3	37	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	G	3.840	-0.033961	0.07543	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000339736	T	0.31247	1.5	5.95	1.76	0.24704	.	0.138045	0.64402	N	0.000003	T	0.08313	0.0207	N	0.01473	-0.845	0.43874	D	0.996483	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.0	T	0.36359	-0.9751	10	0.02654	T	1	-22.8842	7.8407	0.29397	0.072:0.1004:0.6819:0.1457	.	267;336	B4DNL0;Q9H3K2	.;GHITM_HUMAN	I	336;323;316	ENSP00000361207:M336I	ENSP00000342214:M316I	M	+	3	0	GHITM	85902054	1.000000	0.71417	0.798000	0.32154	0.932000	0.56968	2.765000	0.47621	0.041000	0.15688	0.655000	0.94253	ATG		0.353	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394	
CEP55	55165	broad.mit.edu	37	10	95262988	95262988	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr10:95262988T>C	ENST00000371485.3	+	3	606	c.302T>C	c.(301-303)cTt>cCt	p.L101P		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	101					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)		p.L101P(1)		kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				ACCACATTGCTTGAACAGCTG	0.443																																					p.L101P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T302C	10						.						156.0	139.0	145.0					10																	95262988		2203	4300	6503	95252978	SO:0001583	missense	55165	exon3			AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.302T>C	10.37:g.95262988T>C	ENSP00000360540:p.Leu101Pro	Somatic		Capture	Illumina HiSeq	Phase_I	95252978	NM_018131	B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.529881	0.27387	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.18960	2.18	5.37	5.37	0.77165	.	0.196570	0.45361	D	0.000371	T	0.28566	0.0707	L	0.54323	1.7	0.40363	D	0.979264	D	0.55385	0.971	P	0.52159	0.691	T	0.03278	-1.1053	10	0.35671	T	0.21	-2.5913	9.0635	0.36449	0.205:0.0:0.0:0.795	.	101	Q53EZ4	CEP55_HUMAN	P	101	ENSP00000360540:L101P	ENSP00000351102:L101P	L	+	2	0	CEP55	95252978	0.976000	0.34144	0.976000	0.42696	0.007000	0.05969	0.911000	0.28584	2.148000	0.66965	0.533000	0.62120	CTT		0.443	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131	
HPS6	79803	broad.mit.edu	37	10	103826036	103826036	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr10:103826036G>A	ENST00000299238.5	+	1	890	c.805G>A	c.(805-807)Gct>Act	p.A269T		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	269					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)	p.A269T(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGAGCCACTGGCTGTACACAC	0.637									Hermansky-Pudlak syndrome																												p.A269T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G805A	10						.						41.0	46.0	44.0					10																	103826036		2203	4300	6503	103816026	SO:0001583	missense	79803	exon1	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.805G>A	10.37:g.103826036G>A	ENSP00000299238:p.Ala269Thr	Somatic		Capture	Illumina HiSeq	Phase_I	103816026	NM_024747	Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145693	0.37923	.	.	ENSG00000166189	ENST00000299238	T	0.76709	-1.04	5.26	2.3	0.28687	.	0.372305	0.29389	N	0.012300	T	0.48259	0.1490	N	0.02011	-0.69	0.30378	N	0.782198	B	0.06786	0.001	B	0.08055	0.003	T	0.41251	-0.9519	10	0.22706	T	0.39	0.1556	8.5576	0.33492	0.3372:0.0:0.6628:0.0	.	269	Q86YV9	HPS6_HUMAN	T	269	ENSP00000299238:A269T	ENSP00000299238:A269T	A	+	1	0	HPS6	103816026	1.000000	0.71417	0.994000	0.49952	0.936000	0.57629	3.083000	0.50136	0.296000	0.22592	0.561000	0.74099	GCT		0.637	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747	
PHLDB1	23187	broad.mit.edu	37	11	118498216	118498216	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr11:118498216C>A	ENST00000361417.2	+	7	1088	c.677C>A	c.(676-678)gCt>gAt	p.A226D	PHLDB1_ENST00000356063.5_Missense_Mutation_p.A226D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	226								p.A226D(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCACCGATGGCTAATGGTGGG	0.592																																					p.A226D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C677A	11						.						84.0	85.0	85.0					11																	118498216		2200	4295	6495	118003426	SO:0001583	missense	23187	exon6				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.677C>A	11.37:g.118498216C>A	ENSP00000354498:p.Ala226Asp	Somatic		Capture	Illumina HiSeq	Phase_I	118003426	NM_001144758	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611602	0.46631	.	.	ENSG00000019144	ENST00000361417;ENST00000543207;ENST00000545313;ENST00000356063	T;T	0.31510	1.49;1.49	5.66	5.66	0.87406	.	0.406531	0.27866	N	0.017539	T	0.22666	0.0547	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.20459	0.018;0.045;0.018;0.037	B;B;B;B	0.23150	0.013;0.024;0.044;0.032	T	0.04153	-1.0973	10	0.72032	D	0.01	-5.5975	11.1396	0.48394	0.0:0.883:0.0:0.117	.	225;226;226;226	B4DIX4;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	D	226;225;226;226	ENSP00000354498:A226D;ENSP00000348359:A226D	ENSP00000348359:A226D	A	+	2	0	PHLDB1	118003426	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.177000	0.58276	2.667000	0.90743	0.563000	0.77884	GCT		0.592	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	
TECTA	7007	broad.mit.edu	37	11	120998873	120998873	+	Silent	SNP	C	C	T	rs529258973		TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr11:120998873C>T	ENST00000392793.1	+	9	2458	c.2187C>T	c.(2185-2187)taC>taT	p.Y729Y	TECTA_ENST00000264037.2_Silent_p.Y729Y			O75443	TECTA_HUMAN	tectorin alpha	729	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.Y729Y(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGCCTCCTACGCCTTCCCCT	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17915	0.0		0.0	False		,,,				2504	0.001				p.Y729Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2187T	11						.						99.0	87.0	91.0					11																	120998873		2203	4299	6502	120504083	SO:0001819	synonymous_variant	7007	exon8			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2187C>T	11.37:g.120998873C>T		Somatic		Capture	Illumina HiSeq	Phase_I	120504083	NM_005422		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.622	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
SLCO1B3	28234	broad.mit.edu	37	12	21068956	21068956	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr12:21068956A>T	ENST00000381545.3	+	16	2103	c.1884A>T	c.(1882-1884)ttA>ttT	p.L628F	SLCO1B3_ENST00000553473.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.L628F|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	628					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.L628F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ACTTGGGCTTATCTATAGCTT	0.308																																					p.L628F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1884T	12						.						79.0	79.0	79.0					12																	21068956		2202	4299	6501	20960223	SO:0001583	missense	28234	exon15				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1884A>T	12.37:g.21068956A>T	ENSP00000370956:p.Leu628Phe	Somatic		Capture	Illumina HiSeq	Phase_I	20960223	NM_019844	E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	11.66	1.705205	0.30232	.	.	ENSG00000111700	ENST00000261196;ENST00000381545	T;T	0.58940	0.3;0.3	3.6	-1.03	0.10102	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.212947	0.30752	N	0.008957	T	0.59998	0.2235	M	0.87038	2.855	0.09310	N	0.999999	P	0.46621	0.881	P	0.47891	0.56	T	0.55270	-0.8167	10	0.62326	D	0.03	.	3.2983	0.06974	0.397:0.2099:0.3931:0.0	.	628	Q9NPD5	SO1B3_HUMAN	F	628	ENSP00000261196:L628F;ENSP00000370956:L628F	ENSP00000261196:L628F	L	+	3	2	SLCO1B3	20960223	0.013000	0.17824	0.001000	0.08648	0.001000	0.01503	-0.111000	0.10807	0.148000	0.19059	-0.339000	0.08088	TTA		0.308	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	
PXMP2	5827	broad.mit.edu	37	12	133281252	133281252	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr12:133281252C>A	ENST00000317479.3	+	5	632	c.567C>A	c.(565-567)taC>taA	p.Y189*	PXMP2_ENST00000545677.1_Missense_Mutation_p.P61T|PXMP2_ENST00000539093.1_Missense_Mutation_p.P61T|PXMP2_ENST00000543589.1_Missense_Mutation_p.T95N|RP13-672B3.2_ENST00000537262.1_Missense_Mutation_p.P61T|PXMP2_ENST00000428960.2_Missense_Mutation_p.P142T	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	189						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)		p.Y189*(1)		large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GGTATGCCTACCTGGCCTCCT	0.627																																					p.Y189X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C567A	12						.						130.0	104.0	113.0					12																	133281252		2203	4300	6503	131791325	SO:0001587	stop_gained	5827	exon5				CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.567C>A	12.37:g.133281252C>A	ENSP00000321271:p.Tyr189*	Somatic		Capture	Illumina HiSeq	Phase_I	131791325	NM_018663		Nonsense_Mutation	SNP	ENST00000317479.3	37	CCDS9279.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	22.5|22.5|22.5	4.300637|4.300637|4.300637	0.81136|0.81136|0.81136	.|.|.	.|.|.	ENSG00000176894;ENSG00000176894;ENSG00000176894;ENSG00000256632|ENSG00000176894|ENSG00000176894	ENST00000545677;ENST00000539093;ENST00000428960;ENST00000537262|ENST00000543589|ENST00000317479	D|.|.	0.93859|.|.	-3.3|.|.	5.04|5.04|5.04	5.04|5.04|5.04	0.67666|0.67666|0.67666	.|.|.	.|.|0.059651	.|.|0.64402	.|.|D	.|.|0.000001	T|T|.	0.25121|0.25121|.	0.0610|0.0610|.	.|.|.	.|.|.	.|.|.	0.30615|0.30615|0.30615	N|N|N	0.759118|0.759118|0.759118	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.09796|0.09796|.	-1.0658|-1.0658|.	6|5|.	0.87932|0.18276|0.02654	D|T|T	0|0.48|1	.|.|.	15.8724|15.8724|15.8724	0.79132|0.79132|0.79132	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	T|N|X	61;61;142;61|95|189	ENSP00000398708:P142T|.|.	ENSP00000398708:P142T|ENSP00000446049:T95N|ENSP00000321271:Y189X	P|T|Y	+|+|+	1|2|3	0|0|2	RP13-672B3.2;PXMP2|PXMP2|PXMP2	131791325|131791325|131791325	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.892000|0.892000|0.892000	0.51952|0.51952|0.51952	2.843000|2.843000|2.843000	0.48238|0.48238|0.48238	2.354000|2.354000|2.354000	0.79902|0.79902|0.79902	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	CCT|ACC|TAC		0.627	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663	
SLC12A1	6557	broad.mit.edu	37	15	48521490	48521490	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr15:48521490G>A	ENST00000558405.1	+	5	843	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000396577.3_Missense_Mutation_p.V277M|SLC12A1_ENST00000330289.6_Missense_Mutation_p.V277M|SLC12A1_ENST00000380993.3_Missense_Mutation_p.V277M			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	277					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.V277M(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TATGTATGTGGTGGGATTTGC	0.418																																					p.V277M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G829A	15						.						125.0	104.0	111.0					15																	48521490		2198	4297	6495	46308782	SO:0001583	missense	6557	exon6				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.829G>A	15.37:g.48521490G>A	ENSP00000453409:p.Val277Met	Somatic		Capture	Illumina HiSeq	Phase_I	46308782	NM_001184832	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871991	0.91587	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.98849	-5.18;-5.18;-5.18	5.81	5.81	0.92471	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.99308	1.0903	10	0.87932	D	0	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	277;277;277	Q8IUN5;E9PDW4;Q13621	.;.;S12A1_HUMAN	M	90;277;277;277	ENSP00000370381:V277M;ENSP00000379822:V277M;ENSP00000331550:V277M	ENSP00000331550:V277M	V	+	1	0	SLC12A1	46308782	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	GTG		0.418	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
FBN1	2200	broad.mit.edu	37	15	48748874	48748874	+	Silent	SNP	T	T	C			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr15:48748874T>C	ENST00000316623.5	-	44	5837	c.5382A>G	c.(5380-5382)ccA>ccG	p.P1794P		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1794	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1794P(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGAATCCCACTGGACATTCAC	0.428																																					p.P1794P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A5382G	15						.						160.0	144.0	150.0					15																	48748874		2198	4296	6494	46536166	SO:0001819	synonymous_variant	2200	exon44			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5382A>G	15.37:g.48748874T>C		Somatic		Capture	Illumina HiSeq	Phase_I	46536166	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.428	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
SHC4	399694	broad.mit.edu	37	15	49254728	49254728	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr15:49254728G>A	ENST00000332408.4	-	1	913	c.485C>T	c.(484-486)tCg>tTg	p.S162L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	162	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.S162L(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AAGCGGGCACGAATCAGGGGT	0.612																																					p.S162L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C485T	15						.						87.0	78.0	81.0					15																	49254728		2197	4295	6492	47042020	SO:0001583	missense	399694	exon1			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.485C>T	15.37:g.49254728G>A	ENSP00000329668:p.Ser162Leu	Somatic		Capture	Illumina HiSeq	Phase_I	47042020	NM_203349	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	9.435	1.086576	0.20390	.	.	ENSG00000185634	ENST00000332408	T	0.15603	2.41	4.67	-2.66	0.06077	.	1.336520	0.04830	N	0.438585	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.04013	0.001	T	0.30208	-0.9986	10	0.27785	T	0.31	-34.811	0.3578	0.00359	0.3562:0.2315:0.2033:0.2091	.	162	Q6S5L8	SHC4_HUMAN	L	162	ENSP00000329668:S162L	ENSP00000329668:S162L	S	-	2	0	SHC4	47042020	0.077000	0.21312	0.000000	0.03702	0.001000	0.01503	0.353000	0.20130	-0.299000	0.08909	-0.910000	0.02820	TCG		0.612	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349	
DPP8	54878	broad.mit.edu	37	15	65790337	65790337	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr15:65790337T>C	ENST00000341861.5	-	5	2208	c.628A>G	c.(628-630)Agt>Ggt	p.S210G	DPP8_ENST00000321118.7_Missense_Mutation_p.S210G|DPP8_ENST00000559233.1_Missense_Mutation_p.S210G|DPP8_ENST00000321147.6_Missense_Mutation_p.S210G|DPP8_ENST00000358939.4_Missense_Mutation_p.S194G|DPP8_ENST00000300141.6_Missense_Mutation_p.S194G|DPP8_ENST00000339244.5_Missense_Mutation_p.S210G	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	210					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.S194G(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTGGGACAACTAGTTTCCACT	0.393																																					p.S194G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A580G	15						.						131.0	108.0	116.0					15																	65790337		2201	4299	6500	63577390	SO:0001583	missense	54878	exon5			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.628A>G	15.37:g.65790337T>C	ENSP00000339208:p.Ser210Gly	Somatic		Capture	Illumina HiSeq	Phase_I	63577390	NM_017743	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544016	0.65198	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.39	5.39	0.77823	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	L	0.29908	0.895	0.22112	N	0.999352	B;P;B;B	0.47253	0.036;0.892;0.036;0.044	B;P;B;B	0.47402	0.021;0.546;0.039;0.101	T	0.13361	-1.0512	10	0.40728	T	0.16	-19.9431	15.4176	0.74983	0.0:0.0:0.0:1.0	.	194;194;210;210	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	G	210;194;194;210;210;210;210	ENSP00000339208:S210G;ENSP00000351817:S194G;ENSP00000300141:S194G;ENSP00000318111:S210G;ENSP00000316373:S210G;ENSP00000341230:S210G;ENSP00000379013:S210G	ENSP00000300141:S194G	S	-	1	0	DPP8	63577390	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.165000	0.64959	2.027000	0.59764	0.533000	0.62120	AGT		0.393	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743	
PIAS1	8554	broad.mit.edu	37	15	68379021	68379021	+	Silent	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr15:68379021G>A	ENST00000249636.6	+	2	550	c.402G>A	c.(400-402)ccG>ccA	p.P134P	PIAS1_ENST00000545237.1_Silent_p.P136P	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	134	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P134P(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CAGTCCATCCGGATATAAAAC	0.393																																					p.P134P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G402A	15						.						104.0	95.0	98.0					15																	68379021		1889	4121	6010	66166075	SO:0001819	synonymous_variant	8554	exon2			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.402G>A	15.37:g.68379021G>A		Somatic		Capture	Illumina HiSeq	Phase_I	66166075	NM_016166	B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Silent	SNP	ENST00000249636.6	37	CCDS45290.1																																																																																				0.393	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2		
SH3GL3	6457	broad.mit.edu	37	15	84237326	84237326	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr15:84237326G>A	ENST00000427482.2	+	4	539	c.233G>A	c.(232-234)cGa>cAa	p.R78Q	SH3GL3_ENST00000324537.5_Missense_Mutation_p.R86Q|SH3GL3_ENST00000434347.1_Missense_Mutation_p.R86Q|SH3GL3_ENST00000535412.1_Missense_Mutation_p.R78Q	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	78	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Required for dimerization upon membrane association. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.R86Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TCGAAGATCCGAGGGCAGGTG	0.483																																					p.R78Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G233A	15						.						87.0	86.0	86.0					15																	84237326		2203	4300	6503	82028330	SO:0001583	missense	6457	exon4			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.233G>A	15.37:g.84237326G>A	ENSP00000391372:p.Arg78Gln	Somatic		Capture	Illumina HiSeq	Phase_I	82028330	NM_003027	O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793536	0.90453	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.86	2.86	0.33363	BAR (3);	0.151648	0.43919	D	0.000510	T	0.46946	0.1419	M	0.74546	2.27	0.58432	D	0.999996	D;D;P	0.71674	0.976;0.998;0.918	B;P;B	0.59012	0.233;0.85;0.224	T	0.49113	-0.8973	10	0.56958	D	0.05	-29.5304	10.0023	0.41935	0.0791:0.1379:0.783:0.0	.	78;78;86	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	Q	78;78;86;86	ENSP00000391372:R78Q;ENSP00000439239:R78Q;ENSP00000320092:R86Q;ENSP00000397871:R86Q	ENSP00000320092:R86Q	R	+	2	0	SH3GL3	82028330	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.183000	0.72002	1.171000	0.42768	0.544000	0.68410	CGA		0.483	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027	
ACSM2B	348158	broad.mit.edu	37	16	20556513	20556513	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr16:20556513G>A	ENST00000329697.6	-	10	1415	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.P416L|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P416L|ACSM2B_ENST00000565322.1_Missense_Mutation_p.P337L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	416					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.P416L(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGGCCTGATGGGTTTGACCCT	0.517																																					p.P416L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1247T	16						.						146.0	113.0	124.0					16																	20556513		2201	4297	6498	20464014	SO:0001583	missense	348158	exon10			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1247C>T	16.37:g.20556513G>A	ENSP00000327453:p.Pro416Leu	Somatic		Capture	Illumina HiSeq	Phase_I	20464014	NM_001105069	Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023704	0.19433	.	.	ENSG00000066813	ENST00000329697	T	0.52057	0.68	3.38	2.42	0.29668	AMP-dependent synthetase/ligase (1);	0.131072	0.34986	N	0.003530	T	0.36608	0.0973	L	0.37561	1.115	0.80722	D	1	B;B	0.27656	0.112;0.184	B;B	0.30495	0.081;0.116	T	0.23368	-1.0190	10	0.62326	D	0.03	-9.1647	8.6445	0.33996	0.1119:0.0:0.8881:0.0	.	416;416	A8K051;Q68CK6	.;ACS2B_HUMAN	L	416	ENSP00000327453:P416L	ENSP00000327453:P416L	P	-	2	0	ACSM2B	20464014	0.979000	0.34478	0.155000	0.22561	0.260000	0.26232	5.162000	0.64942	0.636000	0.30508	0.603000	0.83216	CCC		0.517	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	
ZFHX3	463	broad.mit.edu	37	16	72829498	72829498	+	Silent	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr16:72829498G>A	ENST00000268489.5	-	9	7755	c.7083C>T	c.(7081-7083)gaC>gaT	p.D2361D	ZFHX3_ENST00000397992.5_Silent_p.D1447D	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2361					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D2361D(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTGGCTGTCGTCCTGCCCCT	0.527																																					p.D2361D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7083T	16						.						136.0	127.0	130.0					16																	72829498		2198	4300	6498	71386999	SO:0001819	synonymous_variant	463	exon9			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7083C>T	16.37:g.72829498G>A		Somatic		Capture	Illumina HiSeq	Phase_I	71386999	NM_006885	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.527	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
KRT17	3872	broad.mit.edu	37	17	39775851	39775851	+	Missense_Mutation	SNP	G	G	A	rs369304694	byFrequency	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr17:39775851G>A	ENST00000311208.8	-	8	1361	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	JUP_ENST00000540235.1_Missense_Mutation_p.R591C	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	432	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)	p.R432C(2)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGTCCTCAGCGGGTGGTCTGG	0.677													g|||	3	0.000599042	0.0	0.0	5008	,	,		16365	0.003		0.0	False		,,,				2504	0.0				p.R432C	Pancreas(92;1242 2086 39193 50508)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1294T	17						.						76.0	79.0	78.0					17																	39775851		2203	4300	6503	37029377	SO:0001583	missense	3872	exon8			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1294C>T	17.37:g.39775851G>A	ENSP00000308452:p.Arg432Cys	Somatic		Capture	Illumina HiSeq	Phase_I	37029377	NM_000422	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936784	0.52972	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;T	0.82803	-1.65;-1.42	4.44	3.46	0.39613	.	0.959820	0.08524	N	0.933015	T	0.78375	0.4273	N	0.08118	0	0.32330	N	0.561195	D	0.76494	0.999	P	0.54346	0.749	T	0.76380	-0.2980	10	0.87932	D	0	.	11.2526	0.49034	0.0:0.0:0.8172:0.1828	.	432	Q04695	K1C17_HUMAN	C	432;591	ENSP00000308452:R432C;ENSP00000441751:R591C	ENSP00000441751:R591C	R	-	1	0	JUP;KRT17	37029377	0.998000	0.40836	0.770000	0.31555	0.445000	0.32107	3.123000	0.50453	0.979000	0.38497	0.462000	0.41574	CGC		0.677	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422	
TUBG2	27175	broad.mit.edu	37	17	40815057	40815057	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr17:40815057C>T	ENST00000251412.7	+	5	665	c.466C>T	c.(466-468)Cga>Tga	p.R156*		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	156					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.R156*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCTCCTGGAGCGACTGAATGA	0.522																																					p.R156X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C466T	17						.						92.0	81.0	85.0					17																	40815057		2203	4300	6503	38068583	SO:0001587	stop_gained	27175	exon5			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.466C>T	17.37:g.40815057C>T	ENSP00000251412:p.Arg156*	Somatic		Capture	Illumina HiSeq	Phase_I	38068583	NM_016437	A6NDI4|Q32NB2	Nonsense_Mutation	SNP	ENST00000251412.7	37	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	C	37	6.127426	0.97305	.	.	ENSG00000037042	ENST00000251412	.	.	.	4.68	2.64	0.31445	.	0.066166	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8869	7.1627	0.25672	0.4586:0.456:0.0:0.0854	.	.	.	.	X	156	.	ENSP00000251412:R156X	R	+	1	2	TUBG2	38068583	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.978000	0.40598	0.503000	0.28060	-0.182000	0.12963	CGA		0.522	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437	
IGF2BP1	10642	broad.mit.edu	37	17	47115630	47115630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr17:47115630C>T	ENST00000290341.3	+	6	836	c.502C>T	c.(502-504)Cga>Tga	p.R168*	RNU6-826P_ENST00000516827.1_RNA|IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	168					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.R168*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GAATGGGCGCCGAGGGGGCTT	0.637																																					p.R168X	Esophageal Squamous(198;1041 2123 8248 37119 38268)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C502T	17						.						42.0	48.0	46.0					17																	47115630		2203	4300	6503	44470629	SO:0001587	stop_gained	10642	exon6			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.502C>T	17.37:g.47115630C>T	ENSP00000290341:p.Arg168*	Somatic		Capture	Illumina HiSeq	Phase_I	44470629	NM_006546	C9JT33	Nonsense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	39	7.477664	0.98309	.	.	ENSG00000159217	ENST00000290341	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9475	14.0034	0.64446	0.1514:0.8486:0.0:0.0	.	.	.	.	X	168	.	ENSP00000290341:R168X	R	+	1	2	IGF2BP1	44470629	0.999000	0.42202	1.000000	0.80357	0.941000	0.58515	3.827000	0.55745	2.585000	0.87301	0.655000	0.94253	CGA		0.637	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr17:7577105G>C	ENST00000269305.4	-	8	1022	c.833C>G	c.(832-834)cCt>cGt	p.P278R	TP53_ENST00000359597.4_Missense_Mutation_p.P278R|TP53_ENST00000420246.2_Missense_Mutation_p.P278R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P278R|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTCTCCCAGGACAGGCACA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.P278R	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,central_nervous_system,brain,Substitution - Missense,-1 	.	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	c.C833G	17	GRCh37	CM961376	TP53	M		.						72.0	63.0	66.0					17																	7577105		2203	4300	6503	7517830	SO:0001583	missense	7157	exon8	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.833C>G	17.37:g.7577105G>C	ENSP00000269305:p.Pro278Arg	Somatic		Capture	Illumina HiSeq	Phase_I	7517830	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422173	0.83559	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	278;278;278;278;278;267;146	ENSP00000352610:P278R;ENSP00000269305:P278R;ENSP00000398846:P278R;ENSP00000391127:P278R;ENSP00000391478:P278R;ENSP00000425104:P146R	ENSP00000269305:P278R	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
LRRC37A3	374819	broad.mit.edu	37	17	62892266	62892266	+	Silent	SNP	A	A	G			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr17:62892266A>G	ENST00000584306.1	-	3	1640	c.1110T>C	c.(1108-1110)tcT>tcC	p.S370S	LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000319651.5_Silent_p.S370S|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000400877.3_Intron	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	370						integral component of membrane (GO:0016021)		p.S370S(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CGACCTCCCTAGAAGACTCAG	0.537																																					p.S370S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1110C	17						.						26.0	32.0	30.0					17																	62892266		1985	4103	6088	60322728	SO:0001819	synonymous_variant	374819	exon3			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1110T>C	17.37:g.62892266A>G		Somatic		Capture	Illumina HiSeq	Phase_I	60322728	NM_199340	Q49A01|Q49A80|Q8NB33	Silent	SNP	ENST00000584306.1	37	CCDS32708.1																																																																																				0.537	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340	
PKN1	5585	broad.mit.edu	37	19	14580323	14580323	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr19:14580323G>A	ENST00000242783.6	+	16	2312	c.2147G>A	c.(2146-2148)cGt>cAt	p.R716H	PKN1_ENST00000342216.4_Missense_Mutation_p.R722H	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	716	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.R716H(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGAGCCCCGTGCCATGTGA	0.647																																					p.R722H	NSCLC(185;2539 2965 10733 52867)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2165A	19						.						61.0	69.0	67.0					19																	14580323		2070	4204	6274	14441323	SO:0001583	missense	5585	exon16			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2147G>A	19.37:g.14580323G>A	ENSP00000242783:p.Arg716His	Somatic		Capture	Illumina HiSeq	Phase_I	14441323	NM_213560	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324048	0.41096	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.65178	-0.14;-0.14	3.64	2.6	0.31112	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000010	T	0.38931	0.1059	L	0.28274	0.84	0.09310	N	1	P;P	0.39250	0.614;0.665	B;B	0.30782	0.073;0.12	T	0.29792	-1.0000	10	0.49607	T	0.09	-21.5069	5.2358	0.15445	0.1179:0.2104:0.6716:0.0	.	722;716	Q16512-2;Q16512	.;PKN1_HUMAN	H	716;722	ENSP00000242783:R716H;ENSP00000343325:R722H	ENSP00000242783:R716H	R	+	2	0	PKN1	14441323	0.704000	0.27836	0.065000	0.19835	0.448000	0.32197	4.056000	0.57448	0.865000	0.35603	0.491000	0.48974	CGT		0.647	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560	
CHST8	64377	broad.mit.edu	37	19	34263784	34263784	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr19:34263784C>T	ENST00000262622.4	+	4	1849	c.1091C>T	c.(1090-1092)gCg>gTg	p.A364V	CHST8_ENST00000438847.3_Missense_Mutation_p.A364V|CHST8_ENST00000434302.1_Missense_Mutation_p.A364V	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	364					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.A364V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CTCATCCGCGCGCCGCGGAAC	0.642																																					p.A364V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1091T	19						.						57.0	48.0	51.0					19																	34263784		2203	4300	6503	38955624	SO:0001583	missense	64377	exon5			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.1091C>T	19.37:g.34263784C>T	ENSP00000262622:p.Ala364Val	Somatic		Capture	Illumina HiSeq	Phase_I	38955624	NM_001127895	Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024946	0.54683	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.72835	-0.69;-0.69;-0.69	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	L	0.38953	1.18	0.58432	D	0.999993	D	0.89917	1.0	D	0.73708	0.981	T	0.70912	-0.4743	10	0.16420	T	0.52	-15.3632	17.2896	0.87152	0.0:1.0:0.0:0.0	.	364	Q9H2A9	CHST8_HUMAN	V	364	ENSP00000392604:A364V;ENSP00000393879:A364V;ENSP00000262622:A364V	ENSP00000262622:A364V	A	+	2	0	CHST8	38955624	1.000000	0.71417	0.083000	0.20561	0.612000	0.37316	6.050000	0.71063	2.331000	0.79229	0.297000	0.19635	GCG		0.642	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467	
C3	718	broad.mit.edu	37	19	6697433	6697433	+	Silent	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr19:6697433G>A	ENST00000245907.6	-	21	2810	c.2718C>T	c.(2716-2718)ggC>ggT	p.G906G		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	906					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.G906G(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTTCCTGCAGGCCGGTCTTTA	0.582																																					p.G906G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2718T	19						.						114.0	94.0	101.0					19																	6697433		2203	4300	6503	6648433	SO:0001819	synonymous_variant	718	exon21			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2718C>T	19.37:g.6697433G>A		Somatic		Capture	Illumina HiSeq	Phase_I	6648433	NM_000064	A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																				0.582	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
DMKN	93099	broad.mit.edu	37	19	36002420	36002420	+	Missense_Mutation	SNP	C	C	T	rs72334573	byFrequency	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr19:36002420C>T	ENST00000339686.3	-	5	987	c.811G>A	c.(811-813)Ggc>Agc	p.G271S	DMKN_ENST00000418261.1_Missense_Mutation_p.G271S|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.G271S|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.G271S|DMKN_ENST00000424570.2_Missense_Mutation_p.G271S|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.G271S|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000436012.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	271	Gly-rich.			Missing (in Ref. 3; ABN11273/ABN11274). {ECO:0000305}.		extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ctgctgctgccaccactgctg	0.657																																					p.G271S												.	.	0			c.G811A	19						.						30.0	23.0	25.0					19																	36002420		2169	4246	6415	40694260	SO:0001583	missense	93099	exon5			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.811G>A	19.37:g.36002420C>T	ENSP00000342012:p.Gly271Ser	None		Capture	Illumina HiSeq	Phase_I	40694260	NM_033317	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	0.987	-0.695138	0.03303	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	3.44	-2.87	0.05700	.	1.607200	0.03581	N	0.230096	T	0.18759	0.0450	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B	0.31931	0.347;0.347;0.347;0.347;0.347	B;B;B;B;B	0.25140	0.058;0.058;0.058;0.058;0.058	T	0.16689	-1.0394	10	0.02654	T	1	.	7.7195	0.28723	0.0:0.3991:0.0:0.6009	.	271;271;271;271;271	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	S	271	ENSP00000342012:G271S;ENSP00000394908:G271S;ENSP00000415277:G271S;ENSP00000414743:G271S;ENSP00000388404:G271S;ENSP00000409513:G271S	ENSP00000342012:G271S	G	-	1	0	DMKN	40694260	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.439000	0.21575	-0.412000	0.07519	-0.418000	0.06021	GGC		0.657	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	
PIAS3	10401	broad.mit.edu	37	1	145584539	145584539	+	Silent	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr1:145584539G>A	ENST00000393045.2	+	12	1596	c.1506G>A	c.(1504-1506)acG>acA	p.T502T	PIAS3_ENST00000369298.1_Silent_p.T467T|NUDT17_ENST00000444015.2_5'Flank	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	502					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.T493T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTATGGGCACGTTGGGTGGGG	0.572																																					p.T502T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1506A	1						.						126.0	123.0	124.0					1																	145584539		2203	4300	6503	144295896	SO:0001819	synonymous_variant	10401	exon12			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1506G>A	1.37:g.145584539G>A		Somatic		Capture	Illumina HiSeq	Phase_I	144295896	NM_006099	Q9UFI3	Silent	SNP	ENST00000393045.2	37	CCDS920.2																																																																																				0.572	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099	
CACNA1S	779	broad.mit.edu	37	1	201030566	201030566	+	Silent	SNP	C	C	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr1:201030566C>T	ENST00000362061.3	-	25	3310	c.3084G>A	c.(3082-3084)gcG>gcA	p.A1028A	CACNA1S_ENST00000367338.3_Silent_p.A1028A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1028	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A1028A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCACGTCCTCCGCATTGGAGT	0.532																																					p.A1028A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3084A	1						.						149.0	130.0	137.0					1																	201030566		2203	4300	6503	199297189	SO:0001819	synonymous_variant	779	exon25			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3084G>A	1.37:g.201030566C>T		Somatic		Capture	Illumina HiSeq	Phase_I	199297189	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
TFB2M	64216	broad.mit.edu	37	1	246704483	246704483	+	Silent	SNP	C	C	T	rs369141918		TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr1:246704483C>T	ENST00000366514.4	-	8	1226	c.1041G>A	c.(1039-1041)gcG>gcA	p.A347A		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	347					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)	p.A347A(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			ATATATCTCTCGCATCAAGTG	0.363																																					p.A347A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1041A	1						.	C		2,4404	4.2+/-10.8	0,2,2201	87.0	75.0	79.0		1041	-1.7	0.0	1		79	0,8600		0,0,4300	no	coding-synonymous	TFB2M	NM_022366.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		347/397	246704483	2,13004	2203	4300	6503	244771106	SO:0001819	synonymous_variant	64216	exon8			AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1041G>A	1.37:g.246704483C>T		Somatic		Capture	Illumina HiSeq	Phase_I	244771106	NM_022366	Q9H626	Silent	SNP	ENST00000366514.4	37	CCDS1627.1																																																																																				0.363	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366	
C1orf94	84970	broad.mit.edu	37	1	34663513	34663513	+	Splice_Site	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr1:34663513G>A	ENST00000488417.1	+	2	1128	c.1008G>A	c.(1006-1008)atG>atA	p.M336I	C1orf94_ENST00000373374.3_Splice_Site_p.M146I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	336								p.M146I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACCACTTGATGGGTGAGTGGG	0.572																																					p.M146I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G438A	1						.						34.0	32.0	33.0					1																	34663513		2203	4300	6503	34436100	SO:0001630	splice_region_variant	84970	exon2			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1009+1G>A	1.37:g.34663513G>A		Somatic		Capture	Illumina HiSeq	Phase_I	34436100	NM_032884	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.462682	0.01062	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.20881	2.04;2.04	4.99	0.715	0.18186	.	1.123940	0.06549	N	0.744625	T	0.10252	0.0251	N	0.12182	0.205	0.24701	N	0.993259	B	0.02656	0.0	B	0.01281	0.0	T	0.37430	-0.9706	10	0.18276	T	0.48	-0.3911	3.6059	0.08042	0.3041:0.0:0.5247:0.1712	.	336	Q6P1W5	CA094_HUMAN	I	146;336	ENSP00000362472:M146I;ENSP00000435634:M336I	ENSP00000362472:M146I	M	+	3	0	C1orf94	34436100	1.000000	0.71417	0.929000	0.37066	0.203000	0.24098	0.972000	0.29409	-0.134000	0.11516	0.557000	0.71058	ATG		0.572	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884	Missense_Mutation
OR2B11	127623	broad.mit.edu	37	1	247614765	247614765	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr1:247614765C>T	ENST00000318749.6	-	1	543	c.520G>A	c.(520-522)Ggg>Agg	p.G174R		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G174R(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACCTGCCGCCCGCAGAATGGC	0.597																																					p.G174R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G520A	1						.						56.0	54.0	55.0					1																	247614765		2203	4300	6503	245681388	SO:0001583	missense	127623	exon1				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.520G>A	1.37:g.247614765C>T	ENSP00000325682:p.Gly174Arg	Somatic		Capture	Illumina HiSeq	Phase_I	245681388	NM_001004492	B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358078	0.41801	.	.	ENSG00000177535	ENST00000318749	T	0.38560	1.13	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.115109	0.39146	N	0.001459	T	0.52008	0.1708	M	0.69823	2.125	0.36284	D	0.855947	D	0.62365	0.991	P	0.51742	0.678	T	0.64398	-0.6417	10	0.72032	D	0.01	.	11.7395	0.51784	0.0:0.8223:0.1777:0.0	.	174	Q5JQS5	OR2BB_HUMAN	R	174	ENSP00000325682:G174R	ENSP00000325682:G174R	G	-	1	0	OR2B11	245681388	0.000000	0.05858	0.903000	0.35520	0.010000	0.07245	0.084000	0.14891	2.749000	0.94314	0.551000	0.68910	GGG		0.597	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492	
CSTL1	128817	broad.mit.edu	37	20	23424629	23424629	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr20:23424629G>A	ENST00000246020.2	+	2	298	c.278G>A	c.(277-279)aGg>aAg	p.R93K	CSTL1_ENST00000347397.1_Missense_Mutation_p.R93K			Q9H114	CST1L_HUMAN	cystatin-like 1	93						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.R93M(1)|p.R93K(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					AAATGCAAGAGGAATGACACG	0.473																																					p.R93K												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G278A	20						.						144.0	121.0	129.0					20																	23424629		2203	4300	6503	23372629	SO:0001583	missense	128817	exon3			AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.278G>A	20.37:g.23424629G>A	ENSP00000246020:p.Arg93Lys	Somatic		Capture	Illumina HiSeq	Phase_I	23372629	NM_138283	Q17RA8|Q64FF7	Missense_Mutation	SNP	ENST00000246020.2	37	CCDS13153.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.088117	0.00367	.	.	ENSG00000125823	ENST00000347397;ENST00000246020	T;T	0.18174	2.23;2.23	4.06	-0.582	0.11709	Proteinase inhibitor I25, cystatin (2);	0.646772	0.13762	N	0.364536	T	0.04272	0.0118	N	0.01789	-0.72	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.42447	-0.9451	10	0.02654	T	1	-16.703	6.5029	0.22178	0.574:0.0:0.426:0.0	.	93	Q9H114	CST1L_HUMAN	K	93	ENSP00000344907:R93K;ENSP00000246020:R93K	ENSP00000246020:R93K	R	+	2	0	CSTL1	23372629	0.274000	0.24191	0.082000	0.20525	0.076000	0.17211	0.126000	0.15769	-0.077000	0.12752	-0.253000	0.11424	AGG		0.473	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078328.1		
TTLL9	164395	broad.mit.edu	37	20	30497577	30497577	+	Missense_Mutation	SNP	G	G	A	rs201616223		TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr20:30497577G>A	ENST00000375938.4	+	6	609	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	TTLL9_ENST00000535842.1_Missense_Mutation_p.R119Q|TTLL9_ENST00000375934.4_Missense_Mutation_p.R101Q|TTLL9_ENST00000310998.4_Missense_Mutation_p.R69Q|TTLL9_ENST00000375922.4_Missense_Mutation_p.R69Q|TTLL9_ENST00000375921.2_Missense_Mutation_p.R69Q			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	119	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.R119Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AACCTGAAGCGGTTCCGGAAG	0.597																																					p.R119Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356A	20						.						43.0	46.0	45.0					20																	30497577		2077	4226	6303	29961238	SO:0001583	missense	164395	exon6			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.356G>A	20.37:g.30497577G>A	ENSP00000365105:p.Arg119Gln	Somatic		Capture	Illumina HiSeq	Phase_I	29961238	NM_001008409	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512632	0.96402	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22;3.22	5.51	5.51	0.81932	.	0.052899	0.64402	N	0.000001	T	0.35068	0.0919	M	0.87381	2.88	0.58432	D	0.999992	D	0.89917	1.0	D	0.77557	0.99	T	0.19976	-1.0289	10	0.87932	D	0	.	16.5728	0.84629	0.0:0.0:1.0:0.0	.	119	Q3SXZ7	TTLL9_HUMAN	Q	119;119;69;69;101;69	ENSP00000365105:R119Q;ENSP00000442515:R119Q;ENSP00000308980:R69Q;ENSP00000365086:R69Q;ENSP00000365100:R101Q;ENSP00000365088:R69Q	ENSP00000308980:R69Q	R	+	2	0	TTLL9	29961238	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.123000	0.77176	2.592000	0.87571	0.561000	0.74099	CGG		0.597	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409	
CDH4	1002	broad.mit.edu	37	20	60498688	60498688	+	Silent	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr20:60498688G>A	ENST00000360469.5	+	10	1642	c.1554G>A	c.(1552-1554)gaG>gaA	p.E518E	CDH4_ENST00000543233.1_Silent_p.E444E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	518	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E518E(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCCTGGAGGAGGGCGTGCCCC	0.617																																					p.E518E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1554A	20						.						69.0	58.0	62.0					20																	60498688		2203	4300	6503	59932083	SO:0001819	synonymous_variant	1002	exon10			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1554G>A	20.37:g.60498688G>A		Somatic		Capture	Illumina HiSeq	Phase_I	59932083	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	CCDS13488.1																																																																																				0.617	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
RBBP8NL	140893	broad.mit.edu	37	20	60991831	60991831	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr20:60991831G>A	ENST00000252998.1	-	5	454	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	100						extracellular space (GO:0005615)		p.R100C(1)									ATGAAGATGCGCTGCAGGTTC	0.682																																					p.R100C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C298T	20						.																																			60425226	SO:0001583	missense	140893	exon5			AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.298C>T	20.37:g.60991831G>A	ENSP00000252998:p.Arg100Cys	Somatic		Capture	Illumina HiSeq	Phase_I	60425226	NM_080833	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	37	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290615	0.59976	.	.	ENSG00000130701	ENST00000252998	T	0.18338	2.22	4.46	4.46	0.54185	Tumour-suppressor protein CtIP N-terminal (1);	0.242516	0.41097	D	0.000951	T	0.18341	0.0440	N	0.22421	0.69	0.44000	D	0.996701	D	0.56035	0.974	P	0.48114	0.567	T	0.03240	-1.1057	10	0.62326	D	0.03	-7.6853	16.7252	0.85419	0.0:0.0:1.0:0.0	.	100	Q8NC74	CT151_HUMAN	C	100	ENSP00000252998:R100C	ENSP00000252998:R100C	R	-	1	0	C20orf151	60425226	1.000000	0.71417	0.806000	0.32338	0.009000	0.06853	8.969000	0.93411	2.031000	0.59945	0.561000	0.74099	CGC		0.682	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833	
CHRNA4	1137	broad.mit.edu	37	20	61982031	61982031	+	Silent	SNP	G	G	C			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr20:61982031G>C	ENST00000370263.4	-	5	953	c.732C>G	c.(730-732)ctC>ctG	p.L244L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	244					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.L244L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TGGTGTAGAAGAGCGGCAGCC	0.592																																					p.L244L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C732G	20						.						233.0	180.0	198.0					20																	61982031		2203	4299	6502	61452475	SO:0001819	synonymous_variant	1137	exon5				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.732C>G	20.37:g.61982031G>C		Somatic		Capture	Illumina HiSeq	Phase_I	61452475	NM_000744	Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	CCDS13517.1																																																																																				0.592	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3		
KRTAP11-1	337880	broad.mit.edu	37	21	32253821	32253821	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr21:32253821C>A	ENST00000332378.4	-	1	53	c.23G>T	c.(22-24)aGa>aTa	p.R8I		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	8						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R8I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGAGCAATTTCTTGTGGAGCA	0.532																																					p.R8I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G23T	21						.						98.0	91.0	93.0					21																	32253821		2203	4300	6503	31175692	SO:0001583	missense	337880	exon1			AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.23G>T	21.37:g.32253821C>A	ENSP00000330720:p.Arg8Ile	Somatic		Capture	Illumina HiSeq	Phase_I	31175692	NM_175858	A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276592	0.59758	.	.	ENSG00000182591	ENST00000332378	T	0.03413	3.94	5.17	2.3	0.28687	.	0.230813	0.35096	N	0.003448	T	0.07007	0.0178	M	0.79258	2.445	0.42323	D	0.992261	P	0.40970	0.734	P	0.44860	0.462	T	0.12967	-1.0527	10	0.66056	D	0.02	-1.8318	2.5229	0.04684	0.1514:0.5358:0.1469:0.1659	.	8	Q8IUC1	KR111_HUMAN	I	8	ENSP00000330720:R8I	ENSP00000330720:R8I	R	-	2	0	KRTAP11-1	31175692	0.972000	0.33761	0.917000	0.36280	0.991000	0.79684	1.233000	0.32648	0.281000	0.22233	0.650000	0.86243	AGA		0.532	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1		
COL18A1	80781	broad.mit.edu	37	21	46911181	46911181	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr21:46911181delG	ENST00000359759.4	+	21	3376	c.3355delG	c.(3355-3357)ggcfs	p.G1119fs	COL18A1_ENST00000355480.5_Frame_Shift_Del_p.G884fs|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.G704fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1119	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGCCTCCCTGGCCCCCCCGG	0.692																																					p.G884fs												.	.	0			c.2650delG	21						.						19.0	26.0	24.0					21																	46911181		1919	4091	6010	45735609	SO:0001589	frameshift_variant	80781	exon21				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3355delG	21.37:g.46911181delG	ENSP00000352798:p.Gly1119fs	None		Capture	Illumina HiSeq	Phase_I	45735609	NM_030582	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Del	DEL	ENST00000359759.4	37																																																																																					0.692	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		
PIWIL3	440822	broad.mit.edu	37	22	25152589	25152589	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr22:25152589C>T	ENST00000332271.5	-	5	855	c.439G>A	c.(439-441)Gtt>Att	p.V147I	PIWIL3_ENST00000527701.1_Missense_Mutation_p.V38I|PIWIL3_ENST00000533313.1_Missense_Mutation_p.V38I|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	147					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.V147I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGTAGTCAACGTTGTATTTA	0.423																																					p.V147I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439A	22						.						92.0	89.0	90.0					22																	25152589		2203	4300	6503	23482589	SO:0001583	missense	440822	exon5			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.439G>A	22.37:g.25152589C>T	ENSP00000330031:p.Val147Ile	Somatic		Capture	Illumina HiSeq	Phase_I	23482589	NM_001008496		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751353	0.31046	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.12147	2.71;2.71;2.71	2.51	-2.32	0.06745	Argonaute/Dicer protein, PAZ (1);	0.146907	0.44902	N	0.000405	T	0.14743	0.0356	L	0.45470	1.425	0.09310	N	1	P;D;D	0.64830	0.784;0.986;0.994	B;P;P	0.51866	0.137;0.578;0.682	T	0.13764	-1.0497	10	0.37606	T	0.19	-7.937	7.834	0.29360	0.0:0.2976:0.0:0.7024	.	38;147;147	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	I	147;38;38	ENSP00000330031:V147I;ENSP00000431843:V38I;ENSP00000435718:V38I	ENSP00000330031:V147I	V	-	1	0	PIWIL3	23482589	0.012000	0.17670	0.001000	0.08648	0.013000	0.08279	-0.610000	0.05629	-0.479000	0.06813	0.455000	0.32223	GTT		0.423	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
TTN	7273	broad.mit.edu	37	2	179479651	179479651	+	Missense_Mutation	SNP	C	C	T	rs368806005		TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr2:179479651C>T	ENST00000591111.1	-	210	43984	c.43760G>A	c.(43759-43761)cGc>cAc	p.R14587H	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7355H|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R16228H|TTN_ENST00000342992.6_Missense_Mutation_p.R13660H|TTN_ENST00000359218.5_Missense_Mutation_p.R7288H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7163H|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14587	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R7355H(1)|p.R7288H(1)|p.R13660H(1)|p.R7163H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCTTCACGCGGTAGGCATA	0.443																																					p.R7163H												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G21488A	2						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3878		0,0,1939	110.0	100.0	103.0		21488,40979,21863,22064	5.6	1.0	2		103	2,8304		0,2,4151	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,2,6090	TT,TC,CC		0.0241,0.0,0.0164	probably-damaging,probably-damaging,probably-damaging,probably-damaging	7163/26927,13660/33424,7288/27052,7355/27119	179479651	2,12182	1939	4153	6092	179187896	SO:0001583	missense	7273	exon88			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43760G>A	2.37:g.179479651C>T	ENSP00000465570:p.Arg14587His	Somatic		Capture	Illumina HiSeq	Phase_I	179187896	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.78	3.216852	0.58452	0.0	2.41E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.63	5.63	0.86233	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85256	0.5655	H	0.96576	3.845	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.89496	0.3760	9	0.87932	D	0	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	7163;7288;7355;14587	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	13660;7163;7355;7288;7163	ENSP00000343764:R13660H;ENSP00000434586:R7163H;ENSP00000340554:R7355H;ENSP00000352154:R7288H	ENSP00000340554:R7355H	R	-	2	0	TTN	179187896	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	7.668000	0.83897	2.805000	0.96524	0.655000	0.94253	CGC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
COL3A1	1281	broad.mit.edu	37	2	189857637	189857637	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr2:189857637G>T	ENST00000304636.3	+	15	1191	c.1021G>T	c.(1021-1023)Gcc>Tcc	p.A341S	COL3A1_ENST00000317840.5_Missense_Mutation_p.A341S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	341	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.A341S(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TCCTGGAACTGCCGGATTCCC	0.393																																					p.A341S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1021T	2						.						92.0	100.0	98.0					2																	189857637		2203	4300	6503	189565882	SO:0001583	missense	1281	exon15			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1021G>T	2.37:g.189857637G>T	ENSP00000304408:p.Ala341Ser	Somatic		Capture	Illumina HiSeq	Phase_I	189565882	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.47|15.47	2.844006|2.844006	0.51164|0.51164	.|.	.|.	ENSG00000168542|ENSG00000168542	ENST00000304636;ENST00000317840|ENST00000450867	D;D|.	0.93426|.	-3.22;-3.22|.	5.8|5.8	3.92|3.92	0.45320|0.45320	.|.	0.141464|.	0.31660|.	N|.	0.007261|.	T|T	0.34135|0.34135	0.0887|0.0887	N|N	0.05619|0.05619	-0.0049999999999999|-0.0049999999999999	0.44149|0.44149	D|D	0.996947|0.996947	B|.	0.02656|.	0.0|.	B|.	0.14023|.	0.01|.	T|T	0.12142|0.12142	-1.0559|-1.0559	10|5	0.32370|.	T|.	0.25|.	.|.	10.5205|10.5205	0.44916|0.44916	0.0:0.1218:0.5023:0.3759|0.0:0.1218:0.5023:0.3759	.|.	341|.	P02461|.	CO3A1_HUMAN|.	S|F	341|40	ENSP00000304408:A341S;ENSP00000315243:A341S|.	ENSP00000304408:A341S|.	A|C	+|+	1|2	0|0	COL3A1|COL3A1	189565882|189565882	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.216000|1.216000	0.32443|0.32443	1.441000|1.441000	0.47550|0.47550	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.393	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
CNTN6	27255	broad.mit.edu	37	3	1418745	1418745	+	Missense_Mutation	SNP	G	G	A	rs140014929		TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr3:1418745G>A	ENST00000446702.2	+	17	2779	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I	CNTN6_ENST00000539053.1_Missense_Mutation_p.V646I|CNTN6_ENST00000350110.2_Missense_Mutation_p.V718I			Q9UQ52	CNTN6_HUMAN	contactin 6	718	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V718I(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCTGAACTCGTCATTACGTG	0.373																																					p.V718I												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.G2152A	3						.	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	188.0	178.0	182.0		2152	-0.1	1.0	3	dbSNP_134	182	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTN6	NM_014461.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	718/1029	1418745	2,13004	2203	4300	6503	1393745	SO:0001583	missense	27255	exon17			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2152G>A	3.37:g.1418745G>A	ENSP00000407822:p.Val718Ile	Somatic		Capture	Illumina HiSeq	Phase_I	1393745	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392335	0.42410	2.27E-4	1.16E-4	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.53857	0.6;0.6;0.6	5.76	-0.13	0.13498	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.235772	0.29684	N	0.011465	T	0.40372	0.1114	L	0.43152	1.355	0.44395	D	0.997306	B	0.15930	0.015	B	0.10450	0.005	T	0.20405	-1.0276	10	0.32370	T	0.25	.	11.0846	0.48080	0.3437:0.0:0.6563:0.0	.	718	Q9UQ52	CNTN6_HUMAN	I	718;646;718	ENSP00000407822:V718I;ENSP00000442791:V646I;ENSP00000341882:V718I	ENSP00000341882:V718I	V	+	1	0	CNTN6	1393745	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	3.636000	0.54317	0.098000	0.17522	0.655000	0.94253	GTC		0.373	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
UQCRC1	7384	broad.mit.edu	37	3	48643256	48643256	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr3:48643256C>T	ENST00000203407.5	-	3	660	c.244G>A	c.(244-246)Gag>Aag	p.E82K		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	82					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.E82K(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTCTCAGTCTCAAAACGGCTG	0.522																																					p.E82K	NSCLC(81;1112 1427 27031 32409 45529)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244A	3						.						136.0	130.0	132.0					3																	48643256		2203	4300	6503	48618260	SO:0001583	missense	7384	exon3			BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.244G>A	3.37:g.48643256C>T	ENSP00000203407:p.Glu82Lys	Somatic		Capture	Illumina HiSeq	Phase_I	48618260	NM_003365	B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	C	36	5.656796	0.96724	.	.	ENSG00000010256	ENST00000203407	T	0.29917	1.55	5.02	5.02	0.67125	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.106321	0.64402	D	0.000005	T	0.77857	0.4193	H	0.99960	5.065	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.89931	0.4066	10	0.87932	D	0	-27.6075	18.3425	0.90311	0.0:1.0:0.0:0.0	.	82	P31930	QCR1_HUMAN	K	82	ENSP00000203407:E82K	ENSP00000203407:E82K	E	-	1	0	UQCRC1	48618260	1.000000	0.71417	0.980000	0.43619	0.980000	0.70556	7.787000	0.85759	2.320000	0.78422	0.455000	0.32223	GAG		0.522	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365	
OTOL1	131149	broad.mit.edu	37	3	161221587	161221587	+	Missense_Mutation	SNP	G	G	A	rs370829105		TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr3:161221587G>A	ENST00000327928.4	+	4	1291	c.1291G>A	c.(1291-1293)Gtc>Atc	p.V431I		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	431	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.V431I(2)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CTCTCTCCTCGTCATCTTGAA	0.488																																					p.V431I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1291A	3						.	G	ILE/VAL	1,3859		0,1,1929	51.0	49.0	50.0		1291	-0.2	0.3	3		50	0,8256		0,0,4128	no	missense	OTOL1	NM_001080440.1	29	0,1,6057	AA,AG,GG		0.0,0.0259,0.0083	benign	431/478	161221587	1,12115	1930	4128	6058	162704281	SO:0001583	missense	131149	exon4				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1291G>A	3.37:g.161221587G>A	ENSP00000330808:p.Val431Ile	Somatic		Capture	Illumina HiSeq	Phase_I	162704281	NM_001080440		Missense_Mutation	SNP	ENST00000327928.4	37	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	4.782	0.145377	0.09134	2.59E-4	0.0	ENSG00000182447	ENST00000327928	T	0.78246	-1.16	5.24	-0.174	0.13319	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.610776	0.17590	N	0.168801	T	0.57330	0.2046	L	0.28192	0.835	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35151	-0.9800	10	0.13470	T	0.59	.	6.152	0.20316	0.4523:0.3939:0.1538:0.0	.	431	A6NHN0	OTOL1_HUMAN	I	431	ENSP00000330808:V431I	ENSP00000330808:V431I	V	+	1	0	OTOL1	162704281	0.000000	0.05858	0.324000	0.25361	0.780000	0.44128	0.352000	0.20113	-0.258000	0.09446	-0.339000	0.08088	GTC		0.488	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440	
UNC5C	8633	broad.mit.edu	37	4	96256667	96256667	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr4:96256667G>C	ENST00000453304.1	-	2	588	c.240C>G	c.(238-240)aaC>aaG	p.N80K	UNC5C_ENST00000506749.1_Missense_Mutation_p.N80K|UNC5C_ENST00000504962.1_Missense_Mutation_p.N80K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	80	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.N80K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TACAGTACAGGTTCACGGGCT	0.423																																					p.N80K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C240G	4						.						120.0	111.0	114.0					4																	96256667		2203	4299	6502	96475690	SO:0001583	missense	8633	exon2			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.240C>G	4.37:g.96256667G>C	ENSP00000406022:p.Asn80Lys	Somatic		Capture	Illumina HiSeq	Phase_I	96475690	NM_003728	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.462823	0.26248	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	6.06	4.34	0.51931	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	N	0.04880	-0.145	0.44711	D	0.997701	B;D;D	0.67145	0.012;0.996;0.981	B;P;D	0.67900	0.004;0.874;0.954	T	0.10359	-1.0633	10	0.08599	T	0.76	.	9.7699	0.40582	0.2699:0.0:0.7301:0.0	.	80;80;80	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	K	80;39;80;80;80	ENSP00000406022:N80K;ENSP00000426924:N80K;ENSP00000426153:N80K;ENSP00000425117:N80K	ENSP00000328673:N39K	N	-	3	2	UNC5C	96475690	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.529000	0.45632	1.587000	0.49959	-0.133000	0.14855	AAC		0.423	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	
ADAM29	11086	broad.mit.edu	37	4	175898992	175898992	+	Silent	SNP	G	G	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr4:175898992G>T	ENST00000359240.3	+	5	2986	c.2316G>T	c.(2314-2316)gtG>gtT	p.V772V	ADAM29_ENST00000445694.1_Silent_p.V772V|ADAM29_ENST00000404450.4_Silent_p.V772V|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Silent_p.V772V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	772	9 X 9 AA approximate repeats.			QPRVM -> HPQLT (in Ref. 1; AAF03777). {ECO:0000305}.	spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L772F(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AACCTCGGGTGATGCCTTCTC	0.577																																					p.V772V	Ovarian(140;1727 1835 21805 25838 41440)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2316T	4						.						175.0	155.0	162.0					4																	175898992		2203	4300	6503	176135567	SO:0001819	synonymous_variant	11086	exon3			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2316G>T	4.37:g.175898992G>T		Somatic		Capture	Illumina HiSeq	Phase_I	176135567	NM_001130705	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	CCDS3823.1																																																																																				0.577	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
APC	324	broad.mit.edu	37	5	112154963	112154963	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr5:112154963C>T	ENST00000457016.1	+	10	1614	c.1234C>T	c.(1234-1236)Cag>Tag	p.Q412*	APC_ENST00000508376.2_Nonsense_Mutation_p.Q412*|APC_ENST00000257430.4_Nonsense_Mutation_p.Q412*			P25054	APC_HUMAN	adenomatous polyposis coli	412	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Q412*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCTTTTGGAACAGATACGCGC	0.507		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.Q394X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1180T	5						.						54.0	53.0	53.0					5																	112154963		2202	4300	6502	112182862	SO:0001587	stop_gained	324	exon8	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1234C>T	5.37:g.112154963C>T	ENSP00000413133:p.Gln412*	Somatic		Capture	Illumina HiSeq	Phase_I	112182862	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	39	7.344333	0.98224	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.3253	20.4191	0.99033	0.0:1.0:0.0:0.0	.	.	.	.	X	412;394;412;412;412	.	ENSP00000257430:Q412X	Q	+	1	0	APC	112182862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.832000	0.97577	0.650000	0.86243	CAG		0.507	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
ERAP2	64167	broad.mit.edu	37	5	96244818	96244818	+	Silent	SNP	C	C	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr5:96244818C>A	ENST00000437043.3	+	14	2877	c.2166C>A	c.(2164-2166)ctC>ctA	p.L722L	ERAP2_ENST00000379904.4_Silent_p.L677L|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	722					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L722L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CTGAAAACCTCAAGGTTTGTG	0.388																																					p.L722L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2166A	5						.						69.0	68.0	68.0					5																	96244818		2203	4300	6503	96270574	SO:0001819	synonymous_variant	64167	exon14			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2166C>A	5.37:g.96244818C>A		Somatic		Capture	Illumina HiSeq	Phase_I	96270574	NM_022350	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Silent	SNP	ENST00000437043.3	37	CCDS4086.1																																																																																				0.388	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350	
APC	324	broad.mit.edu	37	5	112164616	112164616	+	Nonsense_Mutation	SNP	C	C	T	rs137854574		TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr5:112164616C>T	ENST00000457016.1	+	14	2070	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	APC_ENST00000508376.2_Nonsense_Mutation_p.R564*|CTC-554D6.1_ENST00000520401.1_Silent_p.C59C|APC_ENST00000257430.4_Nonsense_Mutation_p.R564*			P25054	APC_HUMAN	adenomatous polyposis coli	564	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R564*(14)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGACGTTGCGAGAAGTTGG	0.313		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R546X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,NS,Substitution - Nonsense,0 	.	15	Substitution - Nonsense(14)|Unknown(1)	large_intestine(14)|skin(1)	c.C1636T	5	GRCh37	CM920035	APC	M	rs137854574	.						126.0	137.0	134.0					5																	112164616		2202	4300	6502	112192515	SO:0001587	stop_gained	324	exon12	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1690C>T	5.37:g.112164616C>T	ENSP00000413133:p.Arg564*	Somatic		Capture	Illumina HiSeq	Phase_I	112192515	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	7.921767	0.98563	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.62	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3959	14.5777	0.68262	0.2726:0.7274:0.0:0.0	.	.	.	.	X	564;546;564;564;564	.	ENSP00000257430:R564X	R	+	1	2	APC	112192515	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.526000	0.45607	1.313000	0.45069	0.655000	0.94253	CGA		0.313	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PPT2	9374	broad.mit.edu	37	6	32125469	32125470	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr6:32125469_32125470insG	ENST00000324816.6	+	6	1165_1166	c.597_598insG	c.(598-600)gggfs	p.G200fs	PPT2_ENST00000375137.2_Frame_Shift_Ins_p.G200fs|PPT2_ENST00000375143.2_Frame_Shift_Ins_p.G200fs|PPT2-EGFL8_ENST00000422437.1_Frame_Shift_Ins_p.G200fs|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000445576.2_Frame_Shift_Ins_p.G200fs|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000437001.2_Frame_Shift_Ins_p.G77fs|PPT2_ENST00000361568.2_Frame_Shift_Ins_p.G206fs|PPT2_ENST00000395523.1_Frame_Shift_Ins_p.G200fs			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	200					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)	p.E207fs*27(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CCCTGATCAATGGGGAAAGAGA	0.505																																					p.N199fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.597_598insG	6						.																																			32233448	SO:0001589	frameshift_variant	9374	exon6			AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.601dupG	6.37:g.32125473_32125473dupG	ENSP00000320528:p.Gly200fs	Somatic		Capture	Illumina HiSeq	Phase_I	32233447	NM_005155	A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Frame_Shift_Ins	INS	ENST00000324816.6	37	CCDS4742.1																																																																																				0.505	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717	
JARID2	3720	broad.mit.edu	37	6	15487704	15487704	+	Silent	SNP	G	G	A	rs142545160		TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr6:15487704G>A	ENST00000341776.2	+	6	1081	c.837G>A	c.(835-837)tcG>tcA	p.S279S	JARID2_ENST00000541660.1_Silent_p.S241S|JARID2_ENST00000397311.3_Silent_p.S107S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	279					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S279S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGGGTTCCTCGGCCAAGGGGC	0.652																																					p.S279S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G837A	6						.	G		1,4405	2.1+/-5.4	0,1,2202	29.0	32.0	31.0		837	-8.2	0.7	6	dbSNP_134	31	0,8600		0,0,4300	no	coding-synonymous	JARID2	NM_004973.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		279/1247	15487704	1,13005	2203	4300	6503	15595683	SO:0001819	synonymous_variant	3720	exon6			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.837G>A	6.37:g.15487704G>A		Somatic		Capture	Illumina HiSeq	Phase_I	15595683	NM_004973	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	CCDS4533.1																																																																																				0.652	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973	
ALDH5A1	7915	broad.mit.edu	37	6	24523153	24523153	+	Splice_Site	SNP	G	G	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr6:24523153G>T	ENST00000357578.3	+	7	1318	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	ALDH5A1_ENST00000348925.2_Splice_Site_p.K404N|ALDH5A1_ENST00000546278.1_Splice_Site_p.K303N|ALDH5A1_ENST00000491546.1_Splice_Site_p.K363N	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	391					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)	p.K404N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	CGGTAGAAAAGGTAAGTATAT	0.398																																					p.K404N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1212T	6						.						78.0	81.0	80.0					6																	24523153		2203	4300	6503	24631132	SO:0001630	splice_region_variant	7915	exon8			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1173+1G>T	6.37:g.24523153G>T		Somatic		Capture	Illumina HiSeq	Phase_I	24631132	NM_170740	B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391306	0.62066	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.2	4.32	0.51571	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.85225	0.5648	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85779	0.1360	10	0.72032	D	0.01	-8.0048	12.0719	0.53622	0.1315:0.0:0.8685:0.0	.	391;404	P51649;G5E949	SSDH_HUMAN;.	N	391;303;363;404	ENSP00000350191:K391N;ENSP00000438193:K303N;ENSP00000417687:K363N;ENSP00000314649:K404N	ENSP00000314649:K404N	K	+	3	2	ALDH5A1	24631132	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	6.333000	0.72939	2.861000	0.98227	0.655000	0.94253	AAG		0.398	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2		Missense_Mutation
NKAPL	222698	broad.mit.edu	37	6	28227927	28227927	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr6:28227927T>G	ENST00000343684.3	+	1	830	c.778T>G	c.(778-780)Ttg>Gtg	p.L260V	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	260								p.L260V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGAAGAGGACTTGTCAGAAGC	0.373																																					p.L260V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T778G	6						.						39.0	41.0	40.0					6																	28227927		2203	4300	6503	28335906	SO:0001583	missense	222698	exon1			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.778T>G	6.37:g.28227927T>G	ENSP00000345716:p.Leu260Val	Somatic		Capture	Illumina HiSeq	Phase_I	28335906	NM_001007531	Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	T	6.930	0.541325	0.13250	.	.	ENSG00000189134	ENST00000343684	T	0.13538	2.58	4.43	3.27	0.37495	.	0.941878	0.08812	N	0.890148	T	0.04003	0.0112	M	0.61703	1.905	0.18873	N	0.999985	P	0.43094	0.799	B	0.35039	0.194	T	0.36114	-0.9761	10	0.14656	T	0.56	0.1448	6.0316	0.19683	0.0:0.1976:0.0:0.8024	.	260	Q5M9Q1	NKAPL_HUMAN	V	260	ENSP00000345716:L260V	ENSP00000345716:L260V	L	+	1	2	NKAPL	28335906	0.917000	0.31117	0.492000	0.27490	0.183000	0.23260	0.524000	0.22940	1.025000	0.39708	0.533000	0.62120	TTG		0.373	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1		
PKHD1L1	93035	broad.mit.edu	37	8	110431380	110431380	+	Silent	SNP	G	G	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr8:110431380G>A	ENST00000378402.5	+	22	2519	c.2415G>A	c.(2413-2415)ggG>ggA	p.G805G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	805					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G807G(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATACACTGGGACAAATGTTT	0.378										HNSCC(38;0.096)																											p.G805G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2415A	8						.						123.0	115.0	118.0					8																	110431380		1890	4104	5994	110500556	SO:0001819	synonymous_variant	93035	exon22			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2415G>A	8.37:g.110431380G>A		Somatic		Capture	Illumina HiSeq	Phase_I	110500556	NM_177531	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
TNFRSF11B	4982	broad.mit.edu	37	8	119945239	119945239	+	Missense_Mutation	SNP	G	G	A	rs201167408		TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr8:119945239G>A	ENST00000297350.4	-	2	709	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	111					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)	p.R111C(2)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TCAAGGTAGCGCCCTTCCTTG	0.522																																					p.R111C												TNFRSF11B,central_nervous_system,brain,Substitution - Missense,0 	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.C331T	8						.						66.0	65.0	65.0					8																	119945239		2203	4300	6503	120014420	SO:0001583	missense	4982	exon2			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.331C>T	8.37:g.119945239G>A	ENSP00000297350:p.Arg111Cys	Somatic		Capture	Illumina HiSeq	Phase_I	120014420	NM_002546	B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	G	7.089	0.571837	0.13623	.	.	ENSG00000164761	ENST00000297350	T	0.61274	0.12	6.17	4.33	0.51752	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.320183	0.38959	N	0.001508	T	0.54046	0.1834	L	0.43923	1.385	0.33041	D	0.531405	D	0.64830	0.994	P	0.49502	0.613	T	0.65331	-0.6194	9	.	.	.	-33.1628	9.8439	0.41015	0.0626:0.0:0.4831:0.4543	.	111	O00300	TR11B_HUMAN	C	111	ENSP00000297350:R111C	.	R	-	1	0	TNFRSF11B	120014420	0.971000	0.33674	0.996000	0.52242	0.037000	0.13140	1.687000	0.37680	1.623000	0.50342	-0.152000	0.13540	CGC		0.522	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1		
MOS	4342	broad.mit.edu	37	8	57026161	57026161	+	Silent	SNP	C	C	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr8:57026161C>T	ENST00000311923.1	-	1	380	c.381G>A	c.(379-381)acG>acA	p.T127T		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.T127T(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			ACCCTGCGGGCGTGCGCGTGC	0.617																																					p.T127T	Esophageal Squamous(124;373 2870 4778)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G381A	8						.						76.0	76.0	76.0					8																	57026161		2203	4300	6503	57188715	SO:0001819	synonymous_variant	4342	exon1				CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.381G>A	8.37:g.57026161C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57188715	NM_005372	Q3KPG9|Q3KPH0	Silent	SNP	ENST00000311923.1	37	CCDS6164.1																																																																																				0.617	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372	
ENY2	56943	broad.mit.edu	37	8	110351621	110351621	+	Splice_Site	SNP	T	T	C			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr8:110351621T>C	ENST00000520147.1	+	3	211		c.e3+2		ENY2_ENST00000521688.1_Splice_Site|ENY2_ENST00000522407.1_Splice_Site|ENY2_ENST00000521662.1_Splice_Site					enhancer of yellow 2 homolog (Drosophila)									p.?(1)		endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			ACTGTAAAGGTAATCAGTTTC	0.358																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						94.0	91.0	92.0					8																	110351621		1839	4084	5923	110420797	SO:0001630	splice_region_variant	56943	.				CCDS43762.1, CCDS55270.1	8q23.1	2005-08-16			ENSG00000120533	ENSG00000120533			24449	protein-coding gene	gene with protein product						11438676	Standard	NM_020189		Approved	DC6, FLJ20480	uc003ynd.3	Q9NPA8	OTTHUMG00000164933	ENST00000520147.1:c.139+2T>C	8.37:g.110351621T>C		Somatic		Capture	Illumina HiSeq	Phase_I	110420797	.		Splice_Site	SNP	ENST00000520147.1	37		.	.	.	.	.	.	.	.	.	.	T	20.9	4.068303	0.76301	.	.	ENSG00000120533	ENST00000521662;ENST00000521688;ENST00000520147	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6681	0.68924	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENY2	110420797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.527000	0.73803	2.137000	0.66172	0.533000	0.62120	.		0.358	ENY2-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381006.1	NM_020189	Intron
TG	7038	broad.mit.edu	37	8	134107373	134107373	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr8:134107373G>T	ENST00000220616.4	+	42	7365	c.7325G>T	c.(7324-7326)tGc>tTc	p.C2442F	SLA_ENST00000524345.1_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000518565.1_Intron|TG_ENST00000519543.1_Missense_Mutation_p.C575F|SLA_ENST00000338087.5_Intron|TG_ENST00000377869.1_Missense_Mutation_p.C2385F|TG_ENST00000542445.1_Missense_Mutation_p.C812F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2442					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.C2442F(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGTCAGTTGCCCCATGTCA	0.577																																					p.C2442F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7325T	8						.						176.0	151.0	159.0					8																	134107373		2203	4300	6503	134176555	SO:0001583	missense	7038	exon42			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7325G>T	8.37:g.134107373G>T	ENSP00000220616:p.Cys2442Phe	Somatic		Capture	Illumina HiSeq	Phase_I	134176555	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.65|14.65	2.597925|2.597925	0.46318|0.46318	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	T;T;T;T|.	0.74421|.	-0.84;-0.84;-0.84;-0.84|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Carboxylesterase, type B (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.84234|0.84234	0.5427|0.5427	M|M	0.89658|0.89658	3.05|3.05	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.998;0.999|.	D|D	0.86264|0.86264	0.1657|0.1657	10|5	0.87932|.	D|.	0|.	.|.	16.144|16.144	0.81551|0.81551	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	575;812;2442|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	F|F	2385;1248;2442;812;575|897	ENSP00000367100:C2385F;ENSP00000220616:C2442F;ENSP00000441693:C812F;ENSP00000430430:C575F|.	ENSP00000220616:C2442F|.	C|L	+|+	2|3	0|2	TG|TG	134176555|134176555	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.018000|0.018000	0.09664|0.09664	5.889000|5.889000	0.69766|0.69766	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	TGC|TTG		0.577	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
ZFP37	7539	broad.mit.edu	37	9	115805266	115805266	+	Silent	SNP	C	C	T	rs138245465		TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr9:115805266C>T	ENST00000374227.3	-	4	1659	c.1632G>A	c.(1630-1632)ccG>ccA	p.P544P	ZFP37_ENST00000553380.1_Silent_p.P559P|ZFP37_ENST00000555206.1_Silent_p.P545P	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	544					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P544P(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TACACTCATACGGTTTCTCTC	0.393																																					p.P544P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1632A	9						.	C		0,4406		0,0,2203	86.0	80.0	82.0		1632	-2.3	1.0	9	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFP37	NM_003408.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		544/631	115805266	1,13005	2203	4300	6503	114845087	SO:0001819	synonymous_variant	7539	exon4			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1632G>A	9.37:g.115805266C>T		Somatic		Capture	Illumina HiSeq	Phase_I	114845087	NM_003408	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Silent	SNP	ENST00000374227.3	37	CCDS6787.1																																																																																				0.393	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408	
TMC1	117531	broad.mit.edu	37	9	75445568	75445568	+	Nonsense_Mutation	SNP	C	C	T	rs150738413		TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr9:75445568C>T	ENST00000297784.5	+	23	2770	c.2230C>T	c.(2230-2232)Cga>Tga	p.R744*	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Nonsense_Mutation_p.R744*|TMC1_ENST00000340019.3_Nonsense_Mutation_p.R744*	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	744					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.R744*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GAACAAAATGCGAAACAAGAA	0.294																																					p.R744X	Pancreas(75;173 1345 14232 34245 43413)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2230T	9						.	C	stop/ARG	3,4403	6.2+/-15.9	0,3,2200	72.0	81.0	78.0		2230	4.2	1.0	9	dbSNP_134	78	0,8600		0,0,4300	yes	stop-gained	TMC1	NM_138691.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		744/761	75445568	3,13003	2203	4300	6503	74635388	SO:0001587	stop_gained	117531	exon23			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2230C>T	9.37:g.75445568C>T	ENSP00000297784:p.Arg744*	Somatic		Capture	Illumina HiSeq	Phase_I	74635388	NM_138691	A8MVZ2|B1AM91	Nonsense_Mutation	SNP	ENST00000297784.5	37	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	C	43	9.944370	0.99302	6.81E-4	0.0	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000537917;ENST00000542143;ENST00000396237	.	.	.	5.07	4.16	0.48862	.	0.221506	0.33895	N	0.004458	.	.	.	.	.	.	0.51482	D	0.999923	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-5.2392	12.93	0.58282	0.3084:0.6916:0.0:0.0	.	.	.	.	X	744;744;711;738;744	.	ENSP00000297784:R744X	R	+	1	2	TMC1	74635388	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.478000	0.35442	1.476000	0.48215	0.650000	0.86243	CGA		0.294	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1		
BRINP1	1620	broad.mit.edu	37	9	122000972	122000972	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chr9:122000972C>T	ENST00000265922.3	-	5	1107	c.646G>A	c.(646-648)Gtc>Atc	p.V216I	BRINP1_ENST00000373964.2_Missense_Mutation_p.V216I	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	216	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.V216I(2)									TGCAGAAGGACGGAACTCACA	0.498																																					p.V216I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G646A	9						.						128.0	90.0	103.0					9																	122000972		2203	4300	6503	121040793	SO:0001583	missense	1620	exon5			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.646G>A	9.37:g.122000972C>T	ENSP00000265922:p.Val216Ile	Somatic		Capture	Illumina HiSeq	Phase_I	121040793	NM_014618	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613286	0.66672	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.56776	2.06;0.44	5.91	5.91	0.95273	Membrane attack complex component/perforin (MACPF) domain (1);	0.104294	0.64402	D	0.000003	T	0.47985	0.1475	L	0.38953	1.18	0.53688	D	0.999974	B;B	0.20261	0.043;0.003	B;B	0.12837	0.008;0.002	T	0.37407	-0.9707	10	0.62326	D	0.03	-30.7711	19.2777	0.94039	0.0:1.0:0.0:0.0	.	216;216	O60477-2;O60477	.;DBC1_HUMAN	I	216	ENSP00000265922:V216I;ENSP00000363075:V216I	ENSP00000265922:V216I	V	-	1	0	DBC1	121040793	0.998000	0.40836	0.999000	0.59377	0.992000	0.81027	3.834000	0.55798	2.794000	0.96219	0.655000	0.94253	GTC		0.498	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
CHDC2	286464	broad.mit.edu	37	X	36156549	36156549	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chrX:36156549C>A	ENST00000313548.4	+	10	1414	c.1228C>A	c.(1228-1230)Ctt>Att	p.L410I		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	410	CH.					integral component of membrane (GO:0016021)		p.L410I(1)									TGTAAATACTCTTTATGAAAT	0.289																																					p.L410I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1228A	X						.						76.0	71.0	73.0					X																	36156549		2201	4293	6494	36066470	SO:0001583	missense	286464	exon10			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1228C>A	X.37:g.36156549C>A	ENSP00000324767:p.Leu410Ile	Somatic		Capture	Illumina HiSeq	Phase_I	36066470	NM_173695		Missense_Mutation	SNP	ENST00000313548.4	37	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	3.053	-0.194853	0.06259	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	D;D	0.94931	-3.56;-3.56	5.16	-0.443	0.12249	Calponin homology domain (2);	0.396576	0.16027	N	0.233040	D	0.87557	0.6207	L	0.41824	1.3	0.09310	N	1	P	0.37708	0.606	B	0.34180	0.177	T	0.78523	-0.2171	10	0.37606	T	0.19	-6.8549	4.1626	0.10291	0.2535:0.319:0.0:0.4275	.	410	Q8N9S7	CX059_HUMAN	I	410	ENSP00000367929:L410I;ENSP00000324767:L410I	ENSP00000324767:L410I	L	+	1	0	CXorf59	36066470	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	-0.124000	0.10595	-0.286000	0.09076	-0.351000	0.07748	CTT		0.289	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	
TMEM255A	55026	broad.mit.edu	37	X	119445138	119445138	+	Silent	SNP	C	C	A			TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-A01S-01A-21W-A096-10	TCGA-AA-A01S-11A-21W-A096-10	g.chrX:119445138C>A	ENST00000309720.5	-	1	150	c.27G>T	c.(25-27)cgG>cgT	p.R9R	TMEM255A_ENST00000440464.1_Silent_p.R9R|TMEM255A_ENST00000371369.4_Silent_p.R9R|TMEM255A_ENST00000480821.1_5'UTR	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	9						integral component of membrane (GO:0016021)		p.R9R(1)									TGTCGCTGGACCGCTGCTGAG	0.657																																					p.R9R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G27T	X						.						64.0	41.0	49.0					X																	119445138		2190	4278	6468	119329166	SO:0001819	synonymous_variant	55026	exon1			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.27G>T	X.37:g.119445138C>A		Somatic		Capture	Illumina HiSeq	Phase_I	119329166	NM_001104545	A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	CCDS14597.1																																																																																				0.657	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938	
